Articles de revues sur le sujet « Skin colour-specific transcriptomic traits »

Red pigmentation of the skin is an important consumer trait in peach (Prunus persica). The pigment consists largely of anthocyanin. Here, a transcriptomic contrast, based on RNA-Seq technology, was drawn between a white-skinned (Feitao) and a red-skinned (Qiuxue) peach cultivar. The analysis identified 2407 genes as differentially transcribed in the fruit skin of the two cultivars. Among these were a number of genes known to contribute to anthocyanin synthesis. A quantitative real-time PCR assay was used to validate the RNA-Seq-based estimates of transcript abundance for 14 differentially transcribed genes. Anthocyanin synthesis was observed in the skin of Qiuxue fruit during the late ripening stage, matching the high transcript abundance of the gene encoding UDP glucose: flavonoid 3-O-glucosyltransferase, the final step in the synthesis of anthocyanin.

Fruit skin colour intensity is one of the most important economic traits of purple eggplant. A wide diversity for fruit skin colour intensity exists in purple eggplant and the accumulation of anthocyanins and chlorophylls of fruit skin mainly affected colour intensity. However, limited information is available contributing to the molecular mechanisms underlying fruit skin colour intensity variation in purple eggplant. In the present study, variation of two purple eggplant advanced lines EP26 and EP28, with different fruit skin colour intensity was investigated. Higher anthocyanin contents and lower chlorophyll contents were observed in EP26 with deeper fruit skin colour intensity at two developmental stages. Comparative transcriptome analysis of EP26 and EP28 identified a total of 2218 differential expressed genes (DEGs) at two developmental stages. Kyoto Encyclopaedia of Genes and Genomes (KEGG) pathway enrichment analysis showed that these DEGs were mainly involved in flavonoid biosynthesis and photosynthesis. In addition, a total of 131 transcription factors including MYB, bHLH, WRKY, and NAC exhibited dynamic changes, which might be responsible for the variation of fruit pigments accumulation between EP26 and EP28. Taken together, these results expand our knowledge of molecular mechanisms underlying fruit skin colour intensity variation in eggplant, which allowing for improvement of fruit coloration in eggplant breeding.

Humans are a colourful species of primate, with human skin, hair and eye coloration having been influenced by a great variety of evolutionary forces throughout prehistory. Functionally naked skin has been the physical interface between the physical environment and the human body for most of the history of the genus Homo , and hence skin coloration has been under intense natural selection. From an original condition of protective, dark, eumelanin-enriched coloration in early tropical-dwelling Homo and Homo sapiens , loss of melanin pigmentation occurred under natural selection as Homo sapiens dispersed into non-tropical latitudes of Africa and Eurasia. Genes responsible for skin, hair and eye coloration appear to have been affected significantly by population bottlenecks in the course of Homo sapiens dispersals. Because specific skin colour phenotypes can be created by different combinations of skin colour–associated genetic markers, loss of genetic variability due to genetic drift appears to have had negligible effects on the highly redundant genetic ‘palette’ for the skin colour. This does not appear to have been the case for hair and eye coloration, however, and these traits appear to have been more strongly influenced by genetic drift and, possibly, sexual selection. This article is part of the themed issue ‘Animal coloration: production, perception, function and application’.

Abstract Sexual dimorphism often results from hormonally regulated trait differences between the sexes. In sex-role-reversed vertebrates, females often have ornaments used in mating competition that are expected to be under hormonal control. Males of the sex-role-reversed Gulf pipefish (Syngnathus scovelli) develop female-typical traits when they are exposed to estrogens. We aimed to identify genes whose expression levels changed during the development and maintenance of female-specific ornaments. We performed RNA-sequencing on skin and muscle tissue in male Gulf pipefish with and without exposure to estrogen to investigate the transcriptome of the sexually dimorphic ornament of vertical iridescent bands found in females and estrogen-exposed males. We further compared differential gene expression patterns between males and females to generate a list of genes putatively involved in the female secondary sex traits of bands and body depth. A detailed analysis of estrogen-receptor binding sites demonstrates that estrogen-regulated genes tend to have nearby cis-regulatory elements. Our results identified a number of genes that differed between the sexes and confirmed that many of these were estrogen-responsive. These estrogen-regulated genes may be involved in the arrangement of chromatophores for color patterning, as well as in the growth of muscles to achieve the greater body depth typical of females in this species. In addition, anaerobic respiration and adipose tissue could be involved in the rigors of female courtship and mating competition. Overall, this study generates a number of interesting hypotheses regarding the genetic basis of a female ornament in a sex-role-reversed pipefish.

Apricot (Prunus armeniaca L.) is an economically important tree species globally cultivated in temperate areas. Italy has an ample number of traditional varieties, but numerous landraces are abandoned and at risk of extinction because of increasing urbanization, agricultural intensification, and varietal renewal. In this work, we investigated the morphological and genetic diversity present in an ex-situ collection of 28 neglected varieties belonging to the so-called “Vesuvian apricot”. Our aim was to understand the level of diversity and the possible link between the promotion of specific fruit types (e.g., by public policies) and the intraspecific variation in apricot. The combination of five continuous and seven categorical traits allowed us to phenotypically distinguish the varieties; while fruit quality-related attributes displayed high variation, both apricot size and skin colour were more uniform. The twelve fluorescent-based Simple Sequence Repeats (SSRs) markers identified cultivar-specific molecular profiles and revealed a high molecular diversity, which poorly correlated with that described by the morphological analysis. Our results highlighted the complementary information provided by the two sets of descriptors and that DNA markers are necessary to separate morphologically related apricot landraces. The observed morphological and genetic differences suggest a loss of diversity influenced by maintenance breeding of specific pomological traits (e.g., skin colour and size). Finally, our study provided evidence to recommend complementary strategies to avoid the loss of diversity in apricot. Actions should pivot on both the promotion of easily identified premium products and more inclusive biodiversity-centred on-farm strategies.

Background/Aims: Earlobe color is a typical external trait in chicken. There are some previous studies showing that the chicken white/red earlobe color is a polygenic and sex-linked trait in some breeds, but its molecular genetic and histological mechanisms still remain unclear. Methods: We herein utilized histological section, genome-wide association study (GWAS) and RNA-seq, further to investigate the potential histological and molecular genetic mechanisms of white/red earlobe formation in Qiangyuan Partridge chicken (QYP). Results: through histological section analysis, we found the dermal papillary layer of red earlobes had many more blood vessels than that of white earlobes. And we identified a total of 44 SNPs from Chromosome 1, 2, 3, 4, 9, 10, 11, 13, 19, 20, 23 and Z, that was significantly associated with the chicken white/red earlobe color from GWAS, along with 73 significantly associated genes obtained (e.g., PIK3CB, B4GALT1 and TP63), supporting the fact that the white/red earlobe color was also polygenic and sex-linked in QYP. Importantly, PIK3CB and B4GALT1 are both involved in the biological process of angiogenesis, which may directly give rise to the chicken white earlobe formation through regulating blood vessel density in chicken earlobe. Additionally, through contrast of RNA-seq profiles between white earlobe skins and red earlobe skins, we further identified TP63 and CDH1 differentially expressed. Combined with the existing knowledge of TP63 in epithelial development and tumor angiogenesis, we propose that down-regulated TP63 in white earlobes may play roles in thickening the skin and decreasing the vessel numbers in dermal papillary layer, thereby contributing to the white earlobe formation via paling the redness of the skin in QYP, but the specific mechanism remains to be further clarified. Conclusion: our findings advance the existing understanding of the white earlobe formation, as well as provide new clues to understand the molecular mechanism of chicken white/red earlobe color formation.

Abstract. The coat colour of animals is an extremely important trait that affects their behaviour and is decisive for survival in the natural environment. In farm animal breeding, as a result of the selection of a certain coat colour type, animals are characterized by a much greater variety of coat types. This makes them an appropriate model in research in this field. A very important aspect of the coat colour types of farm animals is distinguishing between breeds and varieties based on this trait. Furthermore, for the sheep breeds which are kept for skins and wool, coat/skin colour is an important economic trait. Until now the study of coat colour inheritance in sheep proved the dominance of white colour over pigmented/black coat or skin and of black over brown. Due to the current knowledge of the molecular basis of ovine coat colour inheritance, there is no molecular test to distinguish coat colour types in sheep although some are available for other species, such as cattle, dogs, and horses. Understanding the genetic background of variation in one of the most important phenotypic traits in livestock would help to identify new genes which have a great effect on the coat colour type. Considering that coat colour variation is a crucial trait for discriminating between breeds (including sheep), it is important to broaden our knowledge of the genetic background of pigmentation. The results may be used in the future to determine the genetic pattern of a breed. Until now, identified candidate genes that have a significant impact on colour type in mammals mainly code for factors located in melanocytes. The proposed candidate genes code for the melanocortin 1 receptor (MC1R), agouti signaling protein (ASIP), tyrosinase-related protein 1 (TYRP1), microphthalmia-associated transcription factor MITF, and v-kit Hardy–Zuckerman 4 feline sarcoma viral oncogene homologue (KIT). However, there is still no conclusive evidence of established polymorphisms for specific coat colour types in sheep.

Little is known about the genetic architecture of traits important for salmonid restoration ecology. We mapped quantitative trait loci (QTL) using single nucleotide polymorphisms (SNPs) for juvenile body length, weight, shape, and vertical skin pigmentation patterns (parr marks) within three hybrid backcross families between European and North American subspecies of Atlantic salmon. Amounts of variation in skin colour and pattern quantified in the two second-generation transAtlantic families exceeded the ranges seen in purebred populations. GridQTL analyses using low-density female-specific linkage maps detected QTL showing experiment-wide significance on Ssa02, Ssa03, Ssa09, Ssa11, Ssa19, and Ssa26/28 for both length and weight; on Ssa04 and Ssa23 for parr mark number; on Ssa09 and Ssa13 for parr mark contrast; and on Ssa05, Ssa07, Ssa10, Ssa11, Ssa18, Ssa23, and Ssa26/28 for geometric morphometric shape coordinates. Pleiotrophic QTL on Ssa11 affected length, weight, and shape. No QTL was found that explained more than 10% of the phenotypic variance in pigmentation or shape traits. Each QTL was approximately positioned on the physical map of the Atlantic salmon genome. Some QTL locations confirmed previous studies but many were new. Studies like ours may increase the success of salmon restoration projects by enabling better phenotypic and genetic matching between introduced and extirpated strains.

ABSTRACTThis article reviews the existing evolutionary perspectives on the acute stress response habitual faintness and blood-injection-injury type-specific phobia (BIITS phobia). In this article, an alternative evolutionary perspective, based on recent advances in evolutionary psychology, is proposed. Specifically, that fear–induced faintness (eg, fainting following the sight of a syringe, blood, or following a trivial skin injury) is a distinctHomo sapiens-specific extreme-stress survival response to an inescapable threat. The article suggests that faintness evolved in response to middle paleolithic intra-group and inter-group violence (of con-specifics) rather than as a pan-mammalian defense response, as is presently assumed. Based on recent literature, freeze, flight, fight, fright, faint provides a more complete description of the human acute stress response sequence than current descriptions. Faintness, one of three primary physiological reactions involved in BIITS phobia, is extremely rare in other phobias. Since heritability estimates are higher for faintness than for fears or phobias, the author suggests that trait-faintness may be a useful complement to trait-anxiety as an endophenotype in research on the human fear circuitry. Some implications for the forthcomingDiagnostic and Statistical Manual of Mental Disorders, Fifth Editionas well as for clinical, health services, and transcriptomic research are briefly discussed.

Donkeys, with high economic value for meat, skin and milk production, are important livestock. However, the current insights into reproduction of donkeys are far from enough. To obtain a deeper understanding, the differential expression analysis and weighted gene co-expression network analysis (WGCNA) of transcriptomic data of testicular and epididymis tissues in donkeys were performed. In the result, there were 4313 differentially expressed genes (DEGs) in the two tissues, including 2047 enriched in testicular tissue and 2266 in epididymis tissue. WGCNA identified 1081 hub genes associated with testis development and 6110 genes with epididymal development. Next, the tissue-specific genes were identified with the above two methods, and the gene ontology (GO) analysis revealed that the epididymal-specific genes were associated with gonad development. On the other hand, the testis-specific genes were involved in the formation of sperm flagella, meiosis period, ciliary assembly, ciliary movement, etc. In addition, we found that eca-Mir-711 and eca-Mir-143 likely participated in regulating the development of epididymal tissue. Meanwhile, eca-Mir-429, eca-Mir-761, eca-Mir-200a, eca-Mir-191 and eca-Mir-200b potentially played an important role in regulating the development of testicular tissue. In short, these results will contribute to functional studies of the male reproductive trait in donkeys.

Geese feather production and the quality of downy feathers are additional economically important traits in the geese industry. However, little information is available about the molecular mechanisms fundamental to feather formation and the quality of feathers in geese. This study conducted de novo transcriptome sequencing analysis of two related geese species using the Illumina 4000 platform to determine the genes involved in embryonic skin feather follicle development. A total of 165,564,278 for Anser anser and 144,595,262 for Anser cygnoides clean reads were generated, which were further assembled into 77,134 unigenes with an average length of 906 base pairs in Anser anser and 66,041 unigenes with an average length of 922 base pairs in Anser cygnoides. To recognize the potential regulatory roles of differentially expressed genes (DEGs) during geese embryonic skin feather follicle development, the obtained unigenes were annotated to Gene Ontology (GO), Eukaryotic Orthologous Groups (KOG), and Kyoto Encyclopedia of Genes and Genomes (KEGG) for functional analysis. In both species, GO and KOG had shown similar distribution patterns during functional annotation except for KEGG, which showed significant variation in signaling enrichment. Anser asnser was significantly enriched in the calcium signaling pathway, whereas Anser cygnoides was significantly enriched with glycerolipid metabolism. Further analysis indicated that 14,227 gene families were conserved between the species, among which a total of 20,715 specific gene families were identified. Comparative RNA-Seq data analysis may reveal inclusive knowledge to assist in the identification of genetic regulators at a molecular level to improve feather quality production in geese and other poultry species.

X-chromosome inactivation (XCI) silences one X in female cells to balance sex-differences in X-dosage. A subset of X-linked genes escape XCI, but the extent to which this phenomenon occurs and how it varies across tissues and in a population is as yet unclear. To characterize incidence and variability of escape across individuals and tissues, we conducted a transcriptomic study of escape in adipose, skin, lymphoblastoid cell lines and immune cells in 248 healthy individuals exhibiting skewed XCI. We quantify XCI escape from a linear model of genes’ allelic fold-change and XIST-based degree of XCI skewing. We identify 62 genes, including 19 lncRNAs, with previously unknown patterns of escape. We find a range of tissue-specificity, with 11% of genes escaping XCI constitutively across tissues and 23% demonstrating tissue-restricted escape, including cell type-specific escape across immune cells of the same individual. We also detect substantial inter-individual variability in escape. Monozygotic twins share more similar escape than dizygotic twins, indicating that genetic factors may underlie inter-individual differences in escape. However, discordant escape also occurs within monozygotic co-twins, suggesting environmental factors also influence escape. Altogether, these data indicate that XCI escape is an under-appreciated source of transcriptional differences, and an intricate phenotype impacting variable trait expressivity in females.

<p style="text-align: justify;"><strong>Aims</strong>: This study aimed at assessing the functional linkage among seed traits (including seed number, seed weight), berry growth and berry sugar and acid concentration by adapting a mathematical growth function with parameters having biological importance.</p><p style="text-align: justify;"><strong>Methods and results</strong>: The evolution of berry diameter of Cabernet- Sauvignon was satisfactorily fitted to a bi-phasic growth function with six parameters. Correlations between the parameters and berry characteristics, including time of skin color change, seed number, seed weight, final berry size and chemical composition, were analyzed. Results showed that berry growth within a bunch deviated according to seed number, which positively related to parameters describing diameter increment (D1) and initial growth rate (GRini) during the first rapid growth phase, but not related to any parameters involved in the second growth phase. The time of skin color change was negatively associated with mean seed weight, and coincided with growth parameter DABmax that denotes the time when growth rate is maximum during the second rapid growth phase. Sugar concentration was negatively correlated to final berry fresh weight (BFW), seed fresh weight (SFW), GRini and diameter increment during the second rapid growth phase (D2). Path analysis further revealed that the negative effects of SFW and D2 were indirectly mediated via BFW and GRini.</p><p style="text-align: justify;"><strong>Conclusions</strong>: We thus conclude that seed affects berry growth and exerts its influence only during the first growth phase via modifying the parameters D1 and GRini. The time of colour change is also affected by seed, and might not be a good indicator of growth restoration after the lag phase. Sugar concentration is linked to final berry size, specific berry growth parameters and seed weight, for the last mainly in an indirect manner.</p><p style="text-align: justify;"><strong>Significance of the study</strong>: This study, integrating the analysis of berry growth and composition with a mathematical growth function, provides a valuable approach for deeper understanding of the functional associations among seed traits, berry growth and berry sugar and acid concentration at the berry level.</p>

AbstractSexually dimorphic (SD) traits are important in sexual selection and species survival, yet the molecular basis remains elusive, especially in amphibians where SD traits have evolved repeatedly. We focus on the Leishan moustache toad (Leptobrachium leishanense), in which males develop nuptial spines on their maxillary skin. Here we report a 3.5 Gb genome assembly with a contig N50 of 1.93 Mb. We find a specific expansion of the intermediate filament gene family including numerous keratin genes. Within these genes, a cluster of duplicated hair keratin genes exhibits male-biased and maxillary skin-specific expression, suggesting a role in developing nuptial spines. We identify a module of coexpressed genes significantly associated with spine formation. In addition, we find several hormones likely to be involved in regulating spine development. This study not only presents a high-quality anuran genome but also provides a reference for studying skin-derived SD traits in amphibians.

Abstract Background Genetic improvement of wool and growth traits is a major goal in the sheep industry, but their underlying genetic architecture remains elusive. To improve our understanding of these mechanisms, we conducted a weighted single-step genome-wide association study (WssGWAS) and then integrated the results with large-scale transcriptome data for five wool traits and one growth trait in Merino sheep: mean fibre diameter (MFD), coefficient of variation of the fibre diameter (CVFD), crimp number (CN), mean staple length (MSL), greasy fleece weight (GFW), and live weight (LW). Results Our dataset comprised 7135 individuals with phenotype data, among which 1217 had high-density (HD) genotype data (n = 372,534). The genotypes of 707 of these animals were imputed from the Illumina Ovine single nucleotide polymorphism (SNP) 54 BeadChip to the HD Array. The heritability of these traits ranged from 0.05 (CVFD) to 0.36 (MFD), and between-trait genetic correlations ranged from − 0.44 (CN vs. LW) to 0.77 (GFW vs. LW). By integrating the GWAS signals with RNA-seq data from 500 samples (representing 87 tissue types from 16 animals), we detected tissues that were relevant to each of the six traits, e.g. liver, muscle and the gastrointestinal (GI) tract were the most relevant tissues for LW, and leukocytes and macrophages were the most relevant cells for CN. For the six traits, 54 quantitative trait loci (QTL) were identified covering 81 candidate genes on 21 ovine autosomes. Multiple candidate genes showed strong tissue-specific expression, e.g. BNC1 (associated with MFD) and CHRNB1 (LW) were specifically expressed in skin and muscle, respectively. By conducting phenome-wide association studies (PheWAS) in humans, we found that orthologues of several of these candidate genes were significantly (FDR < 0.05) associated with similar traits in humans, e.g. BNC1 was significantly associated with MFD in sheep and with hair colour in humans, and CHRNB1 was significantly associated with LW in sheep and with body mass index in humans. Conclusions Our findings provide novel insights into the biological and genetic mechanisms underlying wool and growth traits, and thus will contribute to the genetic improvement and gene mapping of complex traits in sheep.

Abstract Heritable DNA methylation is a highly conserved epigenetic mark that is important for many biological processes. In a previous transcriptomic study on the fruit skin pigmentation of apple (Malus domestica Borkh.) cv. ‘Red Delicious’ (G0) and its four continuous-generation bud sport mutants including ‘Starking Red’ (G1), ‘Starkrimson’ (G2), ‘Campbell Redchief’ (G3) and ‘Vallee spur’ (G4), we identified MYB transcription factors (TFs) MdLUX and MdPCL-like involved in regulating anthocyanin synthesis. However, how these TFs ultimately determine the fruit skin colour traits remain elusive. Here, bioinformatics analysis revealed that MdLUX and MdPCL-like contained a well-conserved motif SH[AL]QKY[RF] in their C-terminal region and were located in the nucleus of onion epidermal cells. Overexpression of MdLUX and MdPCL-like in ‘Golden Delicious’ fruits, ‘Gala’ calli and Arabidopsis thaliana promoted the accumulation of anthocyanin, whereas MdLUX and MdPCL-like suppression inhibited anthocyanin accumulation in ‘Red Fuji’ apple fruit skin. Yeast one-hybrid assays revealed that MdLUX and MdPCL-like may bind to the promoter region of the anthocyanin biosynthesis gene MdF3H. Dual-luciferase assays indicated that MdLUX and MdPCL-like activated MdF3H. The whole-genome DNA methylation study revealed that the methylation levels of the mCG context at the upstream (i.e., promoter region) of MdLUX and MdPCL-like were inversely correlated with their mRNA levels and anthocyanin accumulation. Hence, the data suggest that MYB_SH[AL]QKY[RF] TFs MdLUX and MdPCL-like promote anthocyanin biosynthesis in apple fruit skins through the DNA hypomethylation of their promoter regions and the activation of the structural flavonoid gene MdF3H.

Donkeys (Equus asinus) are important livestock with great economic value in meat, skin, and milk production. However, a lack of knowledge of the transcriptome landscape across a wide range of donkey tissues limits genetic selective breeding and conservation. Here we used transcriptomics to describe the transcriptome landscape, classify the tissue-specific gene expression across all primary donkey tissues, and present supplementary analyses on the protein level of additional donkey milk samples. Overall, 16,013 protein-coding genes and 21,983 transcripts were mapped to the reference genome, including 6,778 ubiquitously expressed genes and 2,601 tissue-enriched genes. Functional analysis revealed that the function of the tissue-enriched genes was highly tissue specific. Tissue-elevated genes that could be associated with unique phenotypes in donkey were analyzed. The results showed that, compared with those in human and other livestock, the lysozyme gene in donkey breast was specifically and highly expressed. The calcium-binding lysozyme, encoded by the lysozyme gene, was also detected in high amounts in donkey milk. Given those intact lysozyme genes that predict potentially functional calcium-binding lysozyme found in only a few species (e.g., donkey and horse), the high expression of the lysozyme gene in donkey breast may contribute to the high lysozyme content in donkey milk. Furthermore, 71% of the proteins in donkey milk overlapped with human milk protein, higher than the overlapping rates of bovine, sheep, and swine with humans. The donkey transcriptomic resource contributes to the available genomic resources to interpret the molecular mechanisms underlying phenotype traits.

Abstract Androgen deficiency is a common medical conditions that affects males of all ages. Transplantation of testosterone-producing cells is a promising treatment for male hypogonadism. However, getting a cell source with the characteristics of Leydig cells (LCs) is still challenge. Here, a high-efficiency reprogramming of skin-derived fibroblasts into functional Leydig-like cells (LLCs) based on epigenetic mechanism was described. By performing an integrated analysis of genome-wide DNA methylation and transcriptome profiling in LCs and fibroblasts, the potentially epigenetic-regulating steroidogenic genes and signaling pathways were identified. Then by using CRISPR/dCas9 activation system and signaling pathway regulators, the male- or female-derived fibroblasts were reprogrammed into LLCs with main LC-specific traits. Transcriptomic analysis further indicated that the correlation coefficients of global genes and transcription factors between LLCs and LCs were higher than 0.81 and 0.96 respectively. After transplantation in the testes of hypogonadal rodent models, LLCs increased serum testosterone concentration significantly. In type 2 diabetic rats model, LLCs, which were transplanted in armpit, have the capability to restore the serum testosterone level and improve the hyperglycemia status. In conclusion, our approach enables skin-derived fibroblasts reprogramming into LLCs with high-fidelity, providing a potential cell source for the therapeutics of male hypogonadism and metabolic-related comorbidities.

Body colour is an important economic trait for commercial fishes. Recently, a new colour morph displaying market-favoured yellow skin (termed as yellow-mutant, YM) of northern snakehead ( Channa argus ) was discovered in China. We confirmed that YM snakehead is an albino with complete loss of melanin in the skin and eyes by histological and ultrastructural observations, and inherited as a recessive Mendelian trait. By applying genomic analysis approaches, in combination with gene knockdown and rescue experiments, we suggested a non-sense mutation in slc45a2 (c.383G > A) is the causation for the YM snakehead. Notably, significantly higher levels of key melanogenesis genes ( tyr , tyrp1 , dct and pmel ) and phospho-MITF protein were detected in YM snakehead than those in wild-type individuals, and the underlying mechanism was further investigated by comparative transcriptomic analysis. Results revealed that differential expressed genes involved in pathways like MAPK, WNT and calcium signalling were significantly induced in YM snakehead, which might account for the increased amount of melanogenesis elements, and presumably be stimulated by fibroblast-derived melanogenic factors in a paracrine manner. Our study clarified the genetic basis of colour variation in C. argus and provided the preliminary clue indicating the potential involvement of fibroblasts in pigmentation in fish.

Abstract Background Characterization of the molecular mechanisms underlying hair follicle development is of paramount importance in the genetic improvement of wool-related traits in sheep and skin-related traits in humans. The Merino is the most important breed of fine-wooled sheep in the world. In this study, we systematically investigated the complexity of sheep hair follicle development by integrating transcriptome and methylome datasets from Merino sheep skin. Results We analysed 72 sequence datasets, including DNA methylome and the whole transcriptome of four gene types, i.e. protein-coding genes (PCGs), lncRNAs, circRNAs, and miRNAs, across four embryonic days (E65, E85, E105, and E135) and two postnatal days (P7 and P30) from the skin tissue of 18 Merino sheep. We revealed distinct expression profiles of these four gene types across six hair follicle developmental stages, and demonstrated their complex interactions with DNA methylation. PCGs with stage-specific expression or regulated by stage-specific lncRNAs, circRNAs, and miRNAs were significantly enriched in epithelial differentiation and hair follicle morphogenesis. Regulatory network and gene co-expression analyses identified key transcripts controlling hair follicle development. We further predicted transcriptional factors (e.g. KLF4, LEF1, HOXC13, RBPJ, VDR, RARA, and STAT3) with stage-specific involvement in hair follicle morphogenesis. Through integrating these stage-specific genomic features with results from genome-wide association studies (GWAS) of five wool-related traits in 7135 Merino sheep, we detected developmental stages and genes that were relevant with wool-related traits in sheep. For instance, genes that were specifically upregulated at E105 were significantly associated with most of wool-related traits. A phenome-wide association study (PheWAS) demonstrated that candidate genes of wool-related traits (e.g. SPHK1, GHR, PPP1R27, CSRP2, EEF1A2, and PTPN1) in sheep were also significantly associated with dermatological, metabolic, and immune traits in humans. Conclusions Our study provides novel insights into the molecular basis of hair follicle morphogenesis and will serve as a foundation to improve breeding for wool traits in sheep. It also indicates the importance of studying gene expression in the normal development of organs in understanding the genetic architecture of economically important traits in livestock. The datasets generated here are useful resources for functionally annotating the sheep genome, and for elucidating early skin development in mammals, including humans.

Abstract Understanding the genetic architecture of apple phytochemicals, and their interplay with conventional selection traits, is critical for the development of new apple cultivars with enhanced health benefits. Apple accessions (n = 344) used for this genome-wide association study (GWAS) represented the wide diversity of metabolic profiles in the domesticated and wild Malus genepools. Fruit samples were phenotyped for 34 metabolites, including a stable vitamin C glycoside ‘ascorbic acid 2-β-glucoside’ (AA-2βG), and the accessions were genotyped using the Apple 20K SNP Array. Several fruit quality traits, including red skin over-colour (OCOL), were also assessed. Wild Malus accessions showed at least 2-fold higher average content of several metabolites (e.g. ascorbic acid, chlorogenic acid, phloridzin, and trilobatin) than M. domestica accessions. Several new genomic regions and potential candidate genes underpinning the genetic diversity of apple phytochemicals were identified. The percentage of phenotypic variance explained by the best SNP ranged between 3% and 21% for the different metabolites. Novel association signals for OCOL in the syntenic regions on chromosomes 13 and 16 suggested that whole genome duplication has played a role in the evolution of apple red skin colour. Genetic correlations between phytochemicals and sensory traits were moderate. This study will assist in the selection of Malus accessions with specific phytochemical profiles to establish innovative genomics-based breeding strategies for the development of apple cultivars with enhanced nutritional value.

Abstract Background Aquatic animals show diverse body coloration, and the formation of animal body colour is a complicated process. Increasing evidence has shown that microRNAs (miRNAs) play important regulatory roles in many life processes. The role of miRNAs in pigmentation has been investigated in some species. However, the regulatory patterns of miRNAs in reptile pigmentation remain to be elucidated. In this study, we performed an integrated analysis of miRNA and mRNA expression profiles to explore corresponding regulatory patterns in embryonic body colour formation in the soft-shelled turtle Pelodiscus sinensis. Results We identified 8 866 novel genes and 9 061 mature miRNAs in the skin of Chinese soft-shelled turtles in three embryonic stages (initial period: IP, middle period: MP, final period: FP). A total of 16 563 target genes of the miRNAs were identified. Furthermore, we identified 2 867, 1 840 and 4 290 different expression genes (DEGs) and 227, 158 and 678 different expression miRNAs (DEMs) in IP vs. MP, MP vs. FP, and IP vs. FP, respectively. Among which 72 genes and 25 miRNAs may be related to turtle pigmentation in embryonic development. Further analysis of the novel miRNA families revealed that some novel miRNAs related to pigmentation belong to the miR-7386, miR-138, miR-19 and miR-129 families. Novel_miR_2622 and novel_miR_2173 belong to the miR-19 family and target Kit and Gpnmb, respectively. The quantification of novel_miR_2622 and Kit revealed negative regulation, indicating that novel_miR_2622 may participate in embryonic pigmentation in P. sinensis by negatively regulating the expression of Kit. Conclusions miRNA act as master regulators of biological processes by controlling the expression of mRNAs. Considering their importance, the identified miRNAs and their target genes in Chinese soft-shelled turtle might be useful for investigating the molecular processes involved in pigmentation. All the results of this study may aid in the improvement of P. sinensis breeding traits for aquaculture.

Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease characterized by recurrent abscesses, nodules, and sinus tracts in areas of high hair follicle and sweat gland density. These sinus tracts can present with purulent drainage and scar formation. Dysregulation of multiple immune pathways drives the complexity of HS pathogenesis and may account for the heterogeneity of treatment response in HS patients. Using transcriptomic approaches, including single-cell sequencing and protein analysis, we here characterize the innate inflammatory landscape of HS lesions. We identified a shared upregulation of genes involved in interferon (IFN) and antimicrobial defense signaling through transcriptomic overlap analysis of differentially expressed genes (DEGs) in datasets from HS skin, diabetic foot ulcers (DFUs), and the inflammatory stage of normal healing wounds. Overlap analysis between HS- and DFU-specific DEGs revealed an enrichment of gene signatures associated with monocyte/macrophage functions. Single-cell RNA sequencing further revealed monocytes/macrophages with polarization toward a pro-inflammatory M1-like phenotype and increased effector function, including antiviral immunity, phagocytosis, respiratory burst, and antibody-dependent cellular cytotoxicity. Specifically, we identified the STAT1/IFN-signaling axis and the associated IFN-stimulated genes as central players in monocyte/macrophage dysregulation. Our data indicate that monocytes/macrophages are a potential pivotal player in HS pathogenesis and their pathways may serve as therapeutic targets and biomarkers in HS treatment.

Abstract Regenerative proliferation capacity and poor differentiation are histological features usually linked to poor prognosis in head and neck squamous cell carcinoma (hnSCC). However, the pathways that regulate them remain ill-characterized. Here, we show that those traits can be triggered by the RHO GTPase activator VAV2 in keratinocytes present in the skin and oral mucosa. VAV2 is also required to maintain those traits in hnSCC patient-derived cells. This function, which is both catalysis- and RHO GTPase-dependent, is mediated by c-Myc- and YAP/TAZ-dependent transcriptomal programs associated with regenerative proliferation and cell undifferentiation, respectively. High levels of VAV2 transcripts and VAV2-regulated gene signatures are both associated with poor hnSCC patient prognosis. These results unveil a druggable pathway linked to the malignancy of specific SCC subtypes.

AbstractChimpanzee (Pan troglodytes) sclera appear much darker than the white sclera of human eyes, to such a degree that the direction of chimpanzee gaze may be concealed from conspecifics. Recent debate surrounding this topic has produced mixed results, with some evidence suggesting that (1) primate gaze is indeed concealed from their conspecifics, and (2) gaze colouration is among the suite of traits that distinguish uniquely social and cooperative humans from other primates (the cooperative eye hypothesis). Using a visual modelling approach that properly accounts for specific-specific vision, we reexamined this topic to estimate the extent to which chimpanzee eye coloration is discriminable. We photographed the faces of captive chimpanzees and quantified the discriminability of their pupil, iris, sclera, and surrounding skin. We considered biases of cameras, lighting conditions, and commercial photography software along with primate visual acuity, colour sensitivity, and discrimination ability. Our visual modeling of chimpanzee eye coloration suggests that chimpanzee gaze is visible to conspecifics at a range of distances (within approximately 10 m) appropriate for many species-typical behaviours. We also found that chimpanzee gaze is discriminable to the visual system of primates that chimpanzees prey upon, Colobus monkeys. Chimpanzee sclera colour does not effectively conceal gaze, and we discuss this result with regard to the cooperative eye hypothesis, the evolution of primate eye colouration, and methodological best practices for future primate visual ecology research.

Periderm protects enlarged organs of most dicots and gymnosperms as a barrier to water loss and disease invasion during their secondary growth. Its development undergoes a complex process with genetically controlled and environmental stress-induced characters. Different development of periderm makes the full and partial russet of fruit skin, which diverges in inheritance with qualitative and quantitative characters, respectively, in pear pome. In addition to its specific genetics, fruit periderm has similar development and structure as that of stem and other organs, making it an appropriate material for periderm research. Recently, progress in histochemical as well as transcriptome and proteome analyses, and quantitative trait locus (QTL) mapping have revealed the regulatory molecular mechanism in the periderm based on the identification of switch genes. In this review, we concentrate on the periderm development, propose the conservation of periderm regulation between fruit and other plant organs based on their morphological and molecular characteristics, and summarize a regulatory network with the elicitors and repressors for the tissue development. Spontaneous programmed-cell death (PCD) or environmental stress produces the original signal that triggers the development of periderm. Spatio-temporal specific PCD produced by PyPPCD1 gene and its homologs can play a key role in the coordinated regulation of cell death related tissue development.

Abstract Background High-density genetic mapping is a valuable tool for mapping loci that control specific traits for perennial fruit trees. Peach is an economically important fruit tree and a model Rosaceae species for genomic and genetic research. In peach, even though many molecular markers, genetic maps and QTL mappings have been reported, further research on the improvement of marker numbers, map densities, QTL accuracy and candidate gene identification is still warranted. Results A high-density single nucleotide polymorphism (SNP)-based peach linkage map was constructed using specific locus amplified fragment sequencing (SLAF-seq). This genetic map consisted of 7998 SLAF markers, spanning 1098.79 cM with an average distance of 0.17 cM between adjacent markers. A total of 40 QTLs and 885 annotated candidate genes were detected for 10 fruit-related traits, including fruit weight (FW), fruit diameter (FD), percentage of red skin colour (PSC), eating quality (EQ), fruit flavour (FV), red in flesh (RF), red around pit (RP), adherence to pit (AP), fruit development period (FDP) and fruit fibre content (FFC). Eighteen QTLs for soluble solid content (SSC) were identified along LGs 1, 4, 5, and 6 in 2015 and 2016, and 540 genes were annotated in QTL intervals. Thirty-two QTLs for fruit acidity content (FA) were detected on LG1, and 2, 4, 5, 6, and 1232 candidate genes were identified. The expression profiles of 2 candidate genes for SSC and 4 for FA were analysed in parents and their offspring. Conclusions We constructed a high-density genetic map in peach based on SLAF-seq, which may contribute to the identification of important agronomic trait loci. Ninety QTLs for 12 fruit-related traits were identified, most of which overlapped with previous reports, and some new QTLs were obtained. A large number of candidate genes for fruit-related traits were screened and identified. These results may improve our understanding of the genetic control of fruit quality traits and provide useful information in marker-assisted selection for fruit quality in peach breeding programmes.

The potato (Solanum tuberosum L) is one of the four most important crops worldwide in production and consumption. It originated from South America along the Andes, where six hotspots of diversity known as subcenters of origin are described from Venezuela to Chiloe Island in Chile, and where the greatest diversity of potatoes in the world is found. Today, the use of ancestral genetic resources has gained significant relevance, recovering and producing foods with a greater nutrient content and beneficial to human health. Therefore, native potatoes possess a set of characteristics with great potential for use in potato breeding guided primarily to produce better feed, especially potatoes of the Chilotanum Group that are easily crossed with conventional varieties. The primary objective of this study was to evaluate 290 accessions of S. tuberosum subsp tuberosum belonging to the Chilotanum Group using a set of molecular markers and correlate them to its phenotypic traits for future use in breeding programs. For this purpose, 290 accessions were analysed through 22 specific microsatellites described previously, correlating them with flesh and skin colour, total phenolic content, and anthocyanin content. A division into groups considering all the 290 accessions resulted in two clusters using STRUCTURE analysis and seven different genetic clusters using UPGMA. The latter exhibited common phenotypic characteristics as well as anthocyanin content, strongly supporting a correlation between phenotypic traits and the genetic fingerprint. These results will enable breeders to focus on the development of potatoes with high polyphenol and anthocyanin content.

Abstract Background Grapevine cultivars of the Pinot family represent clonally propagated mutants with major phenotypic and physiological differences, such as different colour or shifted ripening time, as well as changes in important viticultural traits. Specifically, the cultivars ‘Pinot Noir’ (PN) and ‘Pinot Noir Precoce’ (PNP, early ripening) flower at the same time, but vary in the beginning of berry ripening (veraison) and, consequently, harvest time. In addition to genotype, seasonal climatic conditions (i.e. high temperatures) also affect ripening times. To reveal possible regulatory genes that affect the timing of veraison onset, we investigated differences in gene expression profiles between PN and PNP throughout berry development with a closely meshed time series and over two separate years. Results The difference in the duration of berry formation between PN and PNP was quantified to be approximately two weeks under the growth conditions applied, using plant material with a proven PN and PNP clonal relationship. Clusters of co-expressed genes and differentially expressed genes (DEGs) were detected which reflect the shift in the timing of veraison onset. Functional annotation of these DEGs fit to observed phenotypic and physiological changes during berry development. In total, we observed 3,342 DEGs in 2014 and 2,745 DEGs in 2017 between PN and PNP, with 1,923 DEGs across both years. Among these, 388 DEGs were identified as veraison-specific and 12 were considered as berry ripening time regulatory candidates. The expression profiles revealed two candidate genes for ripening time control which we designated VviRTIC1 and VviRTIC2 (VIT_210s0071g01145 and VIT_200s0366g00020, respectively). These genes likely contribute the phenotypic differences observed between PN and PNP. Conclusions Many of the 1,923 DEGs show highly similar expression profiles in both cultivars if the patterns are aligned according to developmental stage. In our work, putative genes differentially expressed between PNP and PN which could control ripening time as well as veraison-specific genes were identified. We point out connections of these genes to molecular events during berry development and discuss potential candidate genes which may control ripening time. Two of these candidates were observed to be differentially expressed in the early berry development phase. Several down-regulated genes during berry ripening are annotated as auxin response factors / ARFs. Conceivably, general changes in auxin signaling may cause the earlier ripening phenotype of PNP.

Unlike many other countries, the Brazilian state has created institutions and actions against unfree labour. In addition, unfree labour is a topic that appears in popular media as well as in scientific research. Poverty is generally attributed as the only factor making people vulnerable to the promises of labour recruiters, while the intersection between class and race is denied. In this article, which takes the Brazilian example, racism is seen as a structural element of unfree labour. Two factors play a big role in this intersection: first, structural racism and, second, racism as a theory of legitimation. As regards the first, imagined races influence one’s chances of having a good education as well as lead to segregation in the job and housing markets, etc. Black people in Brazil are more likely to be poor and have lower chances of upward mobility. As these structures are also mirrored in unfree labour formation, most of unfree labourers in Brazil are black, even though skin colour does not constitute a factor for labour recruiters or estate owners in choosing labourers. As regards the second, when poor people are racialised, they are ascribed specific characteristics. These mostly legitimise their subordinated position as well as their poverty. In Brazil, it could be argued that the category of the peão de trecho (migrant labourer) has been racialised. This group of subaltern labourers are seen as totally irrational people who do not possess the ability to plan their future, but who could be, with the correct guidance, potentially good labourers. Therefore, the exploitation of the peões de trecho is attributed to their characteristic traits and not to labour relations. Additionally, structural factors – as, for example, the lack of access to basic resources – are negated, making poverty a problem of merit and not of chances. Using the example of unfree labour in Brazilian agriculture, this article presents racism and racialisation as factors structuring the labour market as a whole.

We are using Wikidata and Metaphactory to build an Integrated Flora of Canada (IFC). IFC will be integrated in two senses: First, it will draw on multiple existing flora (e.g. Flora of North America, Flora of Manitoba, etc.) for content. Second, it will be a portal to related resources such as annotations, specimens, literature, and sequence data. Background We had success using Semantic Media Wiki (SMW) as the platform for an on-line representation of the Flora of North America (FNA). We used Charaparser (Cui 2012) to extract plant structures (e.g. “stem”), characters (e.g. “external texture”), and character values (e.g. “glabrous”) from the semi-structured FNA treatments. We then loaded this data into SMW, which allows us to query for taxa based on their character traits, and enables a broad range of exploratory analysis, both for purposes of hypothesis generation, and also to provide support for or against specific scientific hypotheses. Migrating to Wikidata/Wikibase We decided to explore a migration from SMW to Wikibase for three main reasons: simplified workflow; triple level provenance; and sustainability. Simplified workflow: Our workflow for our FNA-based portal includes Natural Language Processing (NLP) of coarse-grained XML to get the fine-grained XML, transforming this XML for input into SMW, and a custom SMW skin for displaying the data. We consider the coarse-grained XML to be canonical. When it changes (because we find an error, or we improve our NLP), we have to re-run the transformation, and re-load the data, which is time-consuming. Ideally, our presentation would be based on API calls to the data itself, eliminating the need to transform and re-load after every change. Provenance: Wikidata's provenance model supports having multiple, conflicting assertions for the same character trait, which is something that inevitably happens when floristic data is integrated. Sustainability: Wikidata has strong support from the Wikimedia Foundation, while SMW is increasingly seen as a legacy system. Wikibase vs. Wikidata Wikidata, however, is not a suitable home for the Integrated Flora of Canada. It is built upon a relatively small number of community curated properties, while we have ~4500 properties for the Asteraceae family alone. The model we want to pursue is to use Wikidata for a small group of core properties (e.g. accepted name, parent taxon, etc.), and to use our own instance of Wikibase for the much larger number of specialized morphological properties (e.g. adaxial leaf colour, leaf external texture, etc.) Essentially, we will be running our own Wikidata, over which we would exercise full control. Miller (2018) decribes deploying this curation model in another domain. Metaphactory Metaphactory is a suite of middleware and front-end interfaces for authoring, managing, and querying knowledge graphs, including mechanisms for faceted search and geospatial visualizations. It is also the software (together with Blazegraph) behind the Wikidata Query Service. Metaphactory provides us with a SPARQL endpoint; a templating mechanism that allows each taxonomic treatment to be rendered via a collection of SPARQL queries; reasoning capabilities (via an underlying graph database) that permit the organization of over 42,000 morphological properties; and a variety of search and discovery tools. There are a number of ways in which Wikidata and Metaphactory can work together, and we are still exploring questions such as: Will provenance be managed via named graphs, or via the Wikidata snak model?; How will data flow between the two platforms? Etc. We will report on our findings to date, and invite collaboration with related Wikimedia-based projects.

Consumer or home use (previously ‘amateur’) moving image formats are distinguished from professional (still known as ‘professional’) ones by relative affordability, ubiquity and simplicity of use. Since Pathé Frères released its Pathé Baby camera, projector and 9.5mm film gauge in 1922, a distinct line of viewing and making equipment has been successfully marketed at nonprofessional use, especially in the home. ‘Amateur film’ is a simple term for a complex, variegated and longstanding set of activities. Conceptually it is bounded only by the negative definition of nonprofessional (usually intended as sub-professional), and the positive definition of being for the love of the activity and motivated by personal passion alone. This defines a field broad enough that two major historians of US amateur film, Patricia R. Zimmermann and Alan D. Kattelle, write about different subjects. Zimmermann focuses chiefly on domestic use and ‘how-to’ literature, while Kattelle unearths the collective practices and institutional structure of the Amateur Ciné Clubs and the Amateur Ciné League (Zimmerman, Reel Families, Professional; Kattelle, Home Movies, Amateur Ciné). Marion Norris Gleason, a test subject in Eastman Kodak’s development of 16mm and advocate of amateur film, defined it as having three parts, the home movie, “the photoplay produced by organised groups”, and the experimental film (Swanson 132). This view was current at least until the 1960s, when domestic documentation, Amateur Ciné clubs and experimental filmmakers shared the same film gauges and space in the same amateur film magazines, but paths have diverged somewhat since then. Domestic documentation remains committed to the moving image technology du jour, the Amateur Ciné movement is much reduced, and experimental film has developed a separate identity, its own institutional structure, and won some legitimacy in the art world. The trajectory of Super 8, a late-coming gauge to amateur film, has been defined precisely by this disintegration. Obsolescence was manufactured far more slowly during the long reign of amateur film gauges, allowing 9.5mm (1922-66), 16mm (1923-), 8mm (1932-), and Super 8 (1965-) to engage in protracted format wars significantly longer than the life spans of their analogue and digital video successors. The range of options available to nonprofessional makers – the quality but relative expense of 16mm, the near 16mm frame size of 9.5mm, the superior stability of 8mm compared to 9.5mm and Super 8, the size of Super 8’s picture relative to 8mm’s – are not surprising in the context of general competition for a diverse popular market on the usual basis of price, quality, and novelty. However, since analogue video’s ascent the amateur film gauges have all comprehensibly lost the battle for the home use market. This was by far the largest section of amateur film and the manufacturers’ overt target segment, so the amateur film gauges’ contemporary survival and significance is as something else. Though all the gauges from 8mm to 16mm remain available today to the curious and enthusiastic, Super 8’s afterlife is distinguished by the peculiar combination of having been a tremendously popular substandard to the substandard (ie, to 16mm, the standardised film gauge directly below 35mm in both price and quality), and now being prized for its technological excellence. When the large scale consumption that had supported Super 8’s manufacture dropped away, it revealed the set of much smaller, apparently non-transferable uses that would determine whether and as what Super 8 survived. Consequently, though Super 8 has been superseded many times over as a home movie format, it is not obsolete today as an art medium, a professional format used in the commercial industry, or as an alternative to digital video and 16mm for low budget independent production. In other words, everything it was never intended to be. I lately witnessed an occasion of the kind of high-fetishism for film-versus-video and analogue-versus-digital that the experimental moving image world is justifiably famed for. Discussion around the screening of Peter Tscherkassky’s films at the Xperimenta ‘09 festival raised the specifics and availability of the technology he relies on, both because of the peculiarity of his production method – found-footage collaging onto black and white 35mm stock via handheld light pen – and the issue of projection. Has digital technology supplied an alternative workflow? Would 35mm stock to work on (and prints to pillage) continue to be available? Is the availability of 35mm projectors in major venues holding up? Although this insider view of 35mm’s waning market share was more a performance of technological cultural politics than an analysis of it, it raised a series of issues central to any such analysis. Each film format is a gestalt item, consisting of four parts (that an individual might own): film stock, camera, projector and editor. Along with the availability of processing services, these items comprise a gauge’s viability (not withstanding the existence of camera-less and unedited workflows, and numerous folk developing methods). All these are needed to conjure the geist of the machine at full strength. More importantly, the discussion highlights what happens when such a technology collides with idiosyncratic and unintended use, which happens only because it is manufactured on a much wider scale than eccentric use alone can support. Although nostalgia often plays a role in the advocacy of obsolete technology, its role here should be carefully qualified and not overstated. If it plays a role in the three main economies that support contemporary Super 8, it need not be the same role. Further, even though it is now chiefly the same specialist shops and technicians that supply and service 9.5mm, 8mm, Super 8, and 16mm, they are not sold on the same scale nor to the same purpose. There has been no reported Renaissances of 9.5mm or 8mm, though, as long term home movie formats, they must loom large in the memories of many, and their particular look evokes pastness as surely as any two-colour process. There are some specifics to the trajectory of Super 8 as a non-amateur format that cannot simply be subsumed to general nostalgia or dead technology fetishism. Super 8 as an Art Medium Super 8 has a longer history as an art medium than as a pro-tool or low budget substandard. One key aspect in the invention and supply of amateur film was that it not be an adequate substitute for the professional technology used to populate the media sphere proper. Thus the price of access to motion picture making through amateur gauges has been a marginalisation of the outcome for format reasons alone (Zimmermann, Professional 24; Reekie 110) Eastman Kodak established their 16mm as the acceptable substandard for many non-theatrical uses of film in the 1920s, Pathé’s earlier 28mm having already had some success in this area (Mebold and Tepperman 137, 148-9). But 16mm was still relatively expensive for the home market, and when Kiyooka Eiichi filmed his drive across the US in 1927, his 16mm camera alone cost more than his car (Ruoff 240, 243). Against this, 9.5mm, 8mm and eventually Super 8 were the increasingly affordable substandards to the substandard, marginalised twice over in the commercial world, but far more popular in the consumer market. The 1960s underground film, and the modern artists’ film that was partly recuperated from it, was overwhelmingly based on 16mm, as the collections of its chief distributors, the New York Film-Makers’ Co-op, Canyon Cinema and the Lux clearly show. In the context of experimental film’s longstanding commitment to 16mm, an artist filmmaker’s choice to work with Super 8 had important resonances. Experimental work on 8mm and Super 8 is not hard to come by, even from the 1960s, but consider the cultural stakes of Jonas Mekas’s description of 8mm films as “beautiful folk art, like song and lyric poetry, that was created by the people” (Mekas 83). The evocation of ‘folk art’ signals a yawning gap between 8mm, whose richness has been produced collectively by a large and anonymous group, and the work produced by individual artists such as those (like Mekas himself) who founded the New American Cinema Group. The resonance for artists of the 1960s and 1970s who worked with 8mm and Super 8 was from their status as the premier vulgar film gauge, compounding-through-repetition their choice to work with film at all. By the time Super 8 was declared ‘dead’ in 1980, numerous works by canonical artists had been made in the format (Stan Brakhage, Derek Jarman, Carolee Schneemann, Anthony McCall), and various practices had evolved around the specific possibilities of this emulsion and that camera. The camcorder not only displaced Super 8 as the simplest to use, most ubiquitous and cheapest moving image format, at the same time it changed the hierarchy of moving image formats because Super 8 was now incontestably better than something. Further, beyond the ubiquity, simplicity and size, camcorder video and Super 8 film had little in common. Camcorder replay took advantage of the ubiquity of television, but to this day video projection remains a relatively expensive business and for some time after 1980 the projectors were rare and of undistinguished quality. Until the more recent emergence of large format television (also relatively expensive), projection was necessary to screen to anything beyond very small audience. So, considering the gestalt aspect of these technologies and their functions, camcorders could replace Super 8 only for the capture of home movies and small-scale domestic replay. Super 8 maintained its position as the cheapest way into filmmaking for at least 20 years after its ‘death’, but lost its position as the premier ‘folk’ moving image format. It remained a key format for experimental film through the 1990s, but with constant competition from evolving analogue and digital video, and improved and more affordable video projection, its market share diminished. Kodak has continued to assert the viability of its film stocks and gauges, but across 2005-06 it deleted its Kodachrome Super 8, 16mm and slide range (Kodak, Kodachrome). This became a newsworthy Super 8 story (see Morgan; NYT; Hodgkinson; Radio 4) because Super 8 was the first deletion announced, this was very close to 8 May 2005, which was Global Super 8 Day, Kodachrome 40 (K40) was Super 8’s most famous and still used stock, and because 2005 was Super 8’s 40th birthday. Kodachome was then the most long-lived colour process still available, but there were only two labs left in the world which could supply processing- Kodak’s Lausanne Kodachrome lab in Switzerland, using the authentic company method, and Dwayne’s Photo in the US, using a tolerable but substandard process (Hodgkinson). Kodak launched a replacement stock simultaneously, and indeed the variety of Super 8 stocks is increasing year to year, partly because of new Kodak releases and partly because other companies split Kodak’s 16mm and 35mm stock for use as Super 8 (Allen; Muldowney; Pro8mm; Dager). Nonetheless, the cancelling of K40 convulsed the artists’ film community, and a spirited defence of its unique and excellent properties was lead by artist and activist Pip Chodorov. Chodorov met with a Kodak executive at the Cannes Film Festival, appealed to the French Government and started an online petition. His campaign circular read: EXPLAIN THE ADVANTAGES OF K40We have to show why we care specifically about Kodachrome and why Ektachrome is not a replacement. Kodachrome […] whose fine grain and warm colors […] are often used as a benchmark of quality for other stocks. The unique qualities of the Kodachrome image should be pointed out, and especially the differences between Kodachrome and Ektachrome […]. What great films were shot in Kodachrome, and why? […] What are the advantages to the K-14 process and the Lausanne laboratory? Is K40 a more stable stock, is it more preservable, do the colors fade resistant? Point out differences in the sensitometry curves, the grain structure... There was a rash of protest screenings, including a special all-day programme at Le Festival des Cinemas Différents de Paris, about which Raphaël Bassan wrote This initiative was justified, Kodak having announced in 2005 that it was going to stop the manufacturing of the ultra-sensitive film Kodachrome 40, which allowed such recognized artists as Gérard Courant, Joseph Morder, Stéphane Marti and a whole new generation of filmmakers to express themselves through this supple and inexpensive format with such a particular texture. (Bassan) The distance Super 8 has travelled culturally since analogue video can be seen in the distance between these statements of excellence and the attributes of Super 8 and 8mm that appealed to earlier artists: The great thing about Super 8 is that you can switch is onto automatic and get beyond all those technicalities” (Jarman)An 8mm camera is the ballpoint of the visual world. Soon […] people will use camera-pens as casually as they jot memos today […] and the narrow gauge can make finished works of art. (Durgnat 30) Far from the traits that defined it as an amateur gauge, Super 8 is now lionised in terms more resembling a chemistry historian’s eulogy to the pigments used in Dark Ages illuminated manuscripts. From bic to laspis lazuli. Indie and Pro Super 8 Historian of the US amateur film Patricia R. Zimmermann has charted the long collision between small gauge film, domesticity and the various ‘how-to’ publications designed to bridge the gap. In this she pays particular attention to the ‘how-to’ publications’ drive to assert the commercial feature film as the only model worthy of emulation (Professional 267; Reel xii). This drive continues today in numerous magazines and books addressing the consumer and pro-sumer levels. Alan D. Kattelle has charted a different history of the US amateur film, concentrating on the cine clubs and their national organisation, the Amateur Cine League (ACL), competitive events and distribution, a somewhat less domestic part of the movement which aimed less at family documentation more toward ‘photo-plays’, travelogues and instructionals. Just as interested in achieving professional results with amateur means, the ACL encouraged excellence and some of their filmmakers received commissions to make more widely seen films (Kattelle, Amateur 242). The ACL’s Ten Best competition still exists as The American International Film and Video Festival (Kattelle, Amateur 242), but its remit has changed from being “a showcase for amateur films” to being open “to all non-commercial films regardless of the status of the film makers” (AMPS). This points to both the relative marginalisation of the mid-century notion of the amateur, and that successful professionals and others working in the penumbra of independent production surrounding the industry proper are now important contributors to the festival. Both these groups are the economically important contemporary users of Super 8, but they use it in different ways. Low budget productions use it as cheap alternative to larger gauges or HD digital video and a better capture format than dv, while professional productions use it as a lo-fi format precisely for its degradation and archaic home movie look (Allen; Polisin). Pro8mm is a key innovator, service provider and advocate of Super 8 as an industry standard tool, and is an important and long serving agent in what should be seen as the normalisation of Super 8 – a process of redressing its pariah status as a cheap substandard to the substandard, while progressively erasing the special qualities of Super 8 that underlay this. The company started as Super8 Sound, innovating a sync-sound system in 1971, prior to the release of Kodak’s magnetic stripe sound Super 8 in 1973. Kodak’s Super 8 sound film was discontinued in 1997, and in 2005 Pro8mm produced the Max8 format by altering camera front ends to shoot onto the unused stripe space, producing a better quality image for widescreen. In between they started cutting professional 35mm stocks for Super 8 cameras and are currently investing in ever more high-quality HD film scanners (Allen; Pro8mm). Simultaneous to this, Kodak has brought out a series of stocks for Super 8, and more have been cut down for Super 8 by third parties, that offer a wider range of light responses or ever finer grain structure, thus progressively removing the limitations and visible artefacts associated with the format (Allen; Muldowney; Perkins; Kodak, Motion). These films stocks are designed to be captured to digital video as a normal part of their processing, and then entered into the contemporary digital work flow, leaving little or no indication of the their origins on a format designed to be the 1960s equivalent of the Box Brownie. However, while Super 8 has been used by financially robust companies to produce full-length programmes, its role at the top end of production is more usually as home movie footage and/or to evoke pastness. When service provider and advocate OnSuper8 interviewed professional cinematographer James Chressanthis, he asserted that “if there is a problem with Super 8 it is that it can look too good!” and spent much of the interview explaining how a particular combination of stocks, low shutter speeds and digital conversion could reproduce the traditional degraded look and avoid “looking like a completely transparent professional medium” (Perkins). In his history of the British amateur movement, Duncan Reekie deals with this distinction between the professional and amateur moving image, defining the professional as having a drive towards clarity [that] eventually produced [what] we could term ‘hyper-lucidity’, a form of cinematography which idealises the perception of the human eye: deep focus, increased colour saturation, digital effects and so on. (108) Against this the amateur as distinguished by a visible cinematic surface, where the screen image does not seem natural or fluent but is composed of photographic grain which in 8mm appears to vibrate and weave. Since the amateur often worked with only one reversal print the final film would also often become scratched and dirty. (108-9) As Super 8’s function has moved away from the home movie, so its look has adjusted to the new role. Kodak’s replacement for K40 was finer grained (Kodak, Kodak), designed for a life as good to high quality digital video rather than a film strip, and so for video replay rather than a small gauge projector. In the economy that supports Super 8’s survival, its cameras and film stock have become part of a different gestalt. Continued use is still justified by appeals to geist, but the geist of film in a general and abstract way, not specific to Super 8 and more closely resembling the industry-centric view of film propounded by decades of ‘how-to’ guides. Activity that originally supported Super 8 continues, and currently has embraced the ubiquitous and extremely substandard cameras embedded in mobile phones and still cameras for home movies and social documentation. As Super 8 has moved to a new cultural position it has shed its most recognisable trait, the visible surface of grain and scratches, and it is that which has become obsolete, discontinued and the focus of nostalgia, along with the sound of a film projector (which you can get to go with films transferred to dvd). So it will be left to artist filmmaker Peter Tscherkassky, talking in 1995 about what Super 8 was to him in the 1980s, to evoke what there is to miss about Super 8 today. Unlike any other format, Super-8 was a microscope, making visible the inner life of images by entering beneath the skin of reality. […] Most remarkable of all was the grain. While 'resolution' is the technical term for the sharpness of a film image, Super-8 was really never too concerned with this. Here, quite a different kind of resolution could be witnessed: the crystal-clear and bright light of a Xenon-projection gave us shapes dissolving into the grain; amorphous bodies and forms surreptitiously transformed into new shapes and disappeared again into a sea of colour. Super-8 was the pointillism, impressionism and the abstract expressionism of cinematography. (Howath) Bibliography Allen, Tom. “‘Making It’ in Super 8.” MovieMaker Magazine 8 Feb. 1994. 1 May 2009 ‹http://www.moviemaker.com/directing/article/making_it_in_super_8_3044/›. AMPS. “About the American Motion Picture Society.” American Motion Picture Society site. 2009. 25 Apr. 2009 ‹http://www.ampsvideo.com›. Bassan, Raphaël. “Identity of Cinema: Experimental and Different (review of Festival des Cinémas Différents de Paris, 2005).” Senses of Cinema 44 (July-Sep. 2007). 25 Apr. 2009 ‹http://archive.sensesofcinema.com/contents/07/44/experimental-cinema-bassan.html›. Chodorov, Pip. “To Save Kodochrome.” Frameworks list, 14 May 2005. 28 Apr. 2009 ‹http://www.hi-beam.net/fw/fw29/0216.html›. Dager, Nick. “Kodak Unveils Latest Film Stock in Vision3 Family.” Digital Cinema Report 5 Jan. 2009. 27 Apr. 2009 ‹http://www.digitalcinemareport.com/Kodak-Vision3-film›. Durgnat, Raymond. “Flyweight Flicks.” GAZWRX: The Films of Jeff Keen booklet. Originally published in Films and Filming (Feb. 1965). London: BFI, 2009. 30-31. Frye, Brian L. “‘Me, I Just Film My Life’: An Interview with Jonas Mekas.” Senses of Cinema 44 (July-Sep. 2007). 15 Apr. 2009 ‹http://archive.sensesofcinema.com/contents/07/44/jonas-mekas-interview.html›. Hodgkinson, Will. “End of the Reel for Super 8.” Guardian 28 Sep. 2006. 20 Mar. 2009 ‹http://www.guardian.co.uk/film/2006/sep/28/1›. Horwath, Alexander. “Singing in the Rain - Supercinematography by Peter Tscherkassky.” Senses of Cinema 28 (Sep.-Oct. 2003). 5 May 2009 ‹http://archive.sensesofcinema.com/contents/03/28/tscherkassky.html›. Jarman, Derek. In Institute of Contemporary Arts Video Library Guide. London: ICA, 1987. Kattelle, Alan D. Home Movies: A History of the American Industry, 1897-1979. Hudson, Mass.: self-published, 2000. ———. “The Amateur Cinema League and its films.” Film History 15.2 (2003): 238-51. Kodak. “Kodak Celebrates 40th Anniversary of Super 8 Film Announces New Color Reversal Product to Portfolio.“ Frameworks list, 9 May 2005. 23 Mar. 2009 ‹http://www.hi-beam.net/fw/fw29/0150.html›. ———. “Kodachrome Update.” 30 Jun. 2006. 24 Mar. 2009 ‹http://www.hi-beam.net/fw/fw32/0756.html›. ———. “Motion Picture Film, Digital Cinema, Digital Intermediate.” 2009. 2 Apr. 2009 ‹http://motion.kodak.com/US/en/motion/index.htm?CID=go&idhbx=motion›. Mekas, Jonas. “8mm as Folk Art.” Movie Journal: The Rise of the New American Cinema, 1959-1971. Ed. Jonas Mekas. Originally Published in Village Voice 1963. New York: Macmillan, 1972. Morgan, Spencer. “Kodak, Don't Take My Kodachrome.” New York Times 31 May 2005. 4 Apr. 2009 ‹http://query.nytimes.com/gst/fullpage.html?res=9F05E1DF1F39F932A05756C0A9639C8B63&sec=&spon=&pagewanted=2›. ———. “Fans Beg: Don't Take Kodachrome Away.” New York Times 1 Jun. 2005. 4 Apr. 2009 ‹http://www.nytimes.com/2005/05/31/technology/31iht-kodak.html›. Muldowney, Lisa. “Kodak Ups the Ante with New Motion Picture Film.” MovieMaker Magazine 30 Nov. 2007. 6 Apr. 2009 ‹http://www.moviemaker.com/cinematography/article/kodak_ups_the_ante_with_new_motion_picture_film/›. New York Times. “Super 8 Blues.” 31 May 2005: E1. Perkins, Giles. “A Pro's Approach to Super 8.” OnSuper8 Blogspot 16 July 2007. 13 Apr. 2009 ‹http://onsuper8.blogspot.com/2007/07/pros-approach-to-super-8.html›. Polisin, Douglas. “Pro8mm Asks You to Think Big, Shoot Small.” MovieMaker Magazine 4 Feb. 2009. 1 May 2009 ‹http://www.moviemaker.com/cinematography/article/think_big_shoot_small_rhonda_vigeant_pro8mm_20090127/›. Pro8mm. “Pro8mm Company History.” Super 8 /16mm Cameras, Film, Processing & Scanning (Pro8mm blog) 12 Mar. 2008. 3 May 2009 ‹http://pro8mm-burbank.blogspot.com/2008/03/pro8mm-company-history.html›. Radio 4. No More Yellow Envelopes 24 Dec. 2006. 4 May 2009 ‹http://www.bbc.co.uk/radio4/factual/pip/m6yx0/›. Reekie, Duncan. Subversion: The Definitive History of the Underground Cinema. London: Wallflower Press, 2007. Sneakernet, Christopher Hutsul. “Kodachrome: Not Digital, But Still Delightful.” Toronto Star 26 Sep. 2005. Swanson, Dwight. “Inventing Amateur Film: Marion Norris Gleason, Eastman Kodak and the Rochester Scene, 1921-1932.” Film History 15.2 (2003): 126-36 Zimmermann, Patricia R. “Professional Results with Amateur Ease: The Formation of Amateur Filmmaking Aesthetics 1923-1940.” Film History 2.3 (1988): 267-81. ———. Reel Families: A Social History of Amateur Film. Bloomington: Indiana UP, 1995.

Apparently some people upon coming across [Down Syndrome dolls] were offended. […] Still, it’s curious, and telling, what gives offense. Was it the shock of seeing a doll not modeled on the normative form that caused such offense? Or the assumption that any representation of Down Syndrome must naturally intend ridicule? Either way, it would seem that we might benefit from an examination of such reactions—especially as they relate to instances of the idealisation of the human form that dolls […] represent. (Faulkner) IntroductionWhen Joanne Faulkner describes public criticism of dolls designed to look like they have Down Syndrome, she draws attention to the need for an examination of the way discourses of disability are communicated. She calls, in particular, for an interrogation of people’s reactions to the disruption of the idealised human form that most dolls adopt. The case of Down Syndrome dolls is fascinating, yet critical discussion of these dolls from a disability or cultural studies perspective is conspicuously lacking. To address this lack, this paper draws upon theories of the cultural construction of disability, beauty, and normalcy (Garland-Thompson, Kumari Campbell, Wendell), to explore the way ideas about disability are communicated and circulated. The dominant discourse of disability is medical, where people are diagnosed or identified as disabled if they meet certain criteria, or lists of physical impairments. These lists have a tendency to subsume the disparate qualities of disability (Garland-Thompson) and remove people considered disabled from the social and cultural world in which they live (Snyder and Mitchell 377). While Down Syndrome dolls, produced by Downi Creations and Helga’s European Speciality Toys (HEST) in the US and Europe respectively, are reflective of such lists, they also perform the cultural function of increasing the visibility of disability in society. In addition, the companies distributing these dolls state that they are striving for greater inclusion of people with Down Syndrome (Collins, Parks). However, the effect of the dominance of medicalised discourses of disability can be seen in the public reaction to these dolls. This paper seeks also to bring an interrogation of disability into dialogue with a critical analysis of the discursive function of lists.The paper begins with a consideration of lists as they have been used to define disability and organise knowledge within medicine, and the impact this has had on the position of disability within society. In order to differentiate itself from medical discourses, the emerging social model also relied on lists during the 1980s and 1990s. However, these lists also decontextualised disability by ignoring certain factors for political advantage. The social model, like medicine, tended to ignore the diversity of humanity it was apparently arguing for (Snyder and Mitchell 377). The focus then shifts to the image of Down Syndrome dolls and the ensuing negative interpretation of them focusing, in particular, on reader comments following a Mail Online (Fisher) article. Although the dolls were debated across the blogosphere on a number of disability, special needs parenting, and Down Syndrome specific blogs, people commenting on The Mail Online—a UK based conservative tabloid newspaper—offer useful insights into communication and meaning making around disability. People establish meanings about disability through communication (Hedlund 766). While cultural responses to disability are influenced by a number of paradigms of interpretation such as superstition, religion, and fear, this paper is concerned with the rejection of bodies that do not ascribe to cultural standards of beauty and seeks to explore this paradigm alongside and within the use of lists by the various models of disability. This paper interrogates the use of lists in the way meanings about disability are communicated through the medical diagnostic list, the Down Syndrome dolls, and reactions to them. Each list reduces the disparate qualities and experiences of disability, yet as a cultural artefact, these dolls go some way towards recognising the social and cultural world that medicalised discourses of disability ignore. Drawing on the use of lists within different frameworks of disability, this paper contrasts the individual, or medical, model of disability (that being disabled is a personal problem) with the social model (that exclusion due to disability is social oppression). Secondly, the paper compares the characteristics of Down Syndrome dolls with actual characteristics of Down Syndrome to conclude that these features aim to be a celebrated, not stigmatised, aspect of the doll. By reasserting alternative notions of the body, the dolls point towards a more diverse society where disability can be understood in relation to social oppression. However, these aims of celebration have not automatically translated to a more diverse understanding. This paper aims to complicate perceptions of disability beyond a rudimentary list of characteristics through a consideration of the negative public response to these dolls. These responses are an example of the cultural subjugation of disability.Lists and the Creation of Normative Cultural ValuesFor Robert Belknap, lists are the dominant way of “organizing data relevant to human functioning” (8). While lists are used in a number of ways and for a variety of purposes, Belknap divides lists into two categories—the practical and the literary. Practical lists store meanings, while literary lists create them (89). Belknap’s recognition of the importance of meaning making is particularly relevant to a cultural interrogation of disability. As Mitchell and Snyder comment:Disability’s representational “fate” is not so much dependant upon a tradition of negative portrayals as it is tethered to inciting the act of meaning-making itself. (6)Disability unites disparate groups of people whose only commonality is that they are considered “abnormal” (Garland-Thompson). Ableism—the beliefs, processes, and practices which produce the ideal body—is a cultural project in which normative values are created in an attempt to neutralise the fact that all bodies are out of control (Kumari Campbell). Medical models use diagnostic lists and criteria to remove bodies from their social and cultural context and enforce an unequal power dynamic (Snyder and Mitchell 377).By comparison, the social model of disability shifts the emphasis to situate disability in social and cultural practices (Goggin and Newell 36). Lists have also been integral to the formation of the social model of disability as theorists established binary oppositions between medical and social understandings of disability (Oliver 22). While these lists have no “essential meaning,” through discourse they shape human experience (Liggett). Lists bring disparate items together to structure meaning and organisation. According to Hedlund, insights into the experience of disability—which is neither wholly medical nor wholly social—can be found in the language we use to communicate ideas about disability (766). For example, while the recent production of children’s dolls designed to reflect a list of the physical features of Down Syndrome (Table 2) may have no inherent meaning, negative public reception reveals recognisable modes of understanding disability. Down Syndrome dolls are in stark contrast to dolls popularly available which assume a normative representation. For Blair and Shalmon (15), popular children’s toys communicate cultural standards of beauty. Naomi Wolf describes beauty as a socially constructed normative value used to disempower women in particular. The idealisation of the human form is an aspect of children’s toys that has been criticised for perpetuating a narrow conception of beauty (Levy 189). Disability is likewise subject to social construction and is part of a collective social reality beyond diagnostic lists (Hedlund 766).Organising Knowledge: The Social vs. Medical Model of DisabilityDisability has long been moored in medical cultures and institutions which emphasise a sterile ideal of the body based on a diagnosis of biological difference as deviance. For example, in 1866, John Langdon Down sought to provide a diagnostic classification system for people with, what would later come to be called (after him), Down Syndrome. He focused on physical features:The hair is […] of a brownish colour, straight and scanty. The face is flat and broad, and destitute of prominence. The cheeks are roundish, and extended laterally. The eyes are obliquely placed, and the internal canthi more than normally distant from one another. The palpebral fissure is very narrow. The forehead is wrinkled transversely from the constant assistance which the levatores palpebrarum derive from the occipito-frontalis muscle in the opening of the eyes. The lips are large and thick with transverse fissures. The tongue is long, thick, and is much roughened. The nose is small. The skin has a slight dirty yellowish tinge, and is deficient in elasticity, giving the appearance of being too large for the body. (Down)These features form what Belknap would describe as a “pragmatic” list (12). For Belknap, scientific classification, such as the description Langdon Down offers above, introduces precision and validation to the use of lists (167). The overt principle linking these disparate characteristics together is the normative body from which these features deviate. Medicalised discourses, such as Down’s list, have been linked with the institutionalisation of people with this condition and their exclusion from the broader community (Hickey-Moody 23). Such emphasis on criteria to proffer diagnosis removes and decontextualises bodies from the world in which they live (Snyder and Mitchell 370). This world may in fact be the disabling factor, rather than the person’s body. The social model emerged in direct opposition to medicalised definitions of disability as a number of activists with disabilities in the United Kingdom formed The Union of Physically Impaired Against Segregation (UPIAS) and concluded that people with disability are disabled not by their bodies but by a world structured to exclude their bodies (Finkelstein 13). By separating disability (socially created) from impairment (the body), disability is understood as society’s unwillingness to accommodate the needs of people with impairments. The British academic and disability activist Michael Oliver was central to the establishment of the social model of disability. Following the activities of the UPIAS, Oliver (re)defined disability as a “form of social oppression,” and created two lists (reproduced below) to distinguish between the social and individual (or medical) models of disability. By utilising the list form in this way, Oliver both provided a repository of information regarding the social model of disability and contextualised it in direct opposition to what he describes as the individual model. These lists present the social model as a coherent discipline, in an easy to understand format. As Belknap argues, the suggestion of order is a major tool of the list (98). Oliver’s list suggests a clear order to the emerging social model of disability—disability is a problem with society, not an individual. However, this list was problematic because it appeared to disregard impairment within the experience of disability. As the “impersonal became political” (Snyder and Mitchell 377), impairment became the unacknowledged ambiguity in the binary opposition the social model was attempting to create (Shakespeare 35). Nevertheless, Oliver’s lists successfully enforced a desired order to the social model of disability. The individual modelThe social modelPersonal tragedy theorySocial oppression theoryPersonal problemSocial problemIndividual treatmentSocial actionMedicalisationSelf helpProfessional dominanceIndividual and collective responsibilityExpertiseExperienceAdjustmentAffirmationIndividual identityCollective identityPrejudiceDiscriminationAttitudesBehaviourCareRightsControlChoicePolicyPoliticsIndividual adaptation Social changeTable 1 The Individual v Social Model of Disability (Oliver)The social model then went through a period of “lists,” especially when discussing media and culture. Positive versus negative portrayals of disability were identified and scholars listed strategies for the appropriate representation of disability (Barnes, Barnes Mercer and Shakespeare). The representations of impairment or the physical markers of disability were discouraged as the discipline concerned itself with establishing disability as a political struggle against a disabling social world. Oliver’s lists arrange certain “facts” about disability. Disability is framed as a social phenomenon where certain aspects are emphasised and others left out. While Oliver explains that these lists were intended to represent extreme ends of a continuum to illustrate the distinction between disability and impairment (33), these are not mutually exclusive categories (Shakespeare 35). Disability is not simply a list of physical features, nor is it a clear distinction between individual/medical and social models. By utilising lists, the social model reacts to and attempts to move beyond the particular ordering provided by the medical model, but remains tied to a system of classification that imposes order on human functioning. Critical analysis of the representation of disability must re-engage the body by moving beyond binaries and pragmatic lists. While lists organise data central to human functioning, systems of meaning shape the organisation of human experience. Down Syndrome dolls, explored in the next section, complicate the distinction between the medical and social models.Down Syndrome DollsThese dolls are based on composites of a number of children with Down Syndrome (Hareyan). Helga Parks, CEO of HEST, describes the dolls as a realistic representation of nine physical features of Down Syndrome. Likewise, Donna Moore of Downi Creations employed a designer to oversee the production of the dolls which boast 13 features of Down Syndrome (Velasquez). These features are listed in the table below. HEST Down Syndrome Dolls Downi CreationsSmall ears set low on head with a fold at the topSmall ears with a fold at the topEars set low on the headSmall mouthSmall mouthProtruding tongueSlightly protruding tongueShortened fingers Shortened fingersPinkie finger curves inwardAlmond shaped eyesAlmond-shaped eyesHorizontal crease in palm of handHorizontal crease in palm of handGap between first and second toeA gap between the first and second toesShortened toesFlattened back of headFlattened back of headFlattened bridge across nose Flattened bridge across noseOptional: An incision in the chest to indicate open-heart surgery Table 2: Down Syndrome Dolls (Parks, Velasquez) Achieving the physical features of Down Syndrome is significant because Parks and Moore wanted children with the condition to recognise themselves:When a child with Down’s syndrome [sic.] picks up a regular doll, he doesn’t see himself, he sees the world’s perception of “perfect.” Our society is so focused on bodily perfection. (Cresswell)Despite these motivations, studies show that children with Down Syndrome prefer to play with “typical dolls” that do not reflect the physical characteristics of Down Syndrome (Cafferty 49). According to Cafferty, it is possible that children prefer typical dolls because they are “more attractive” (49). Similar studies of diverse groups of children have shown that children prefer to play with dolls they perceive as fitting into social concepts of beauty (Abbasi). Deeply embedded cultural notions of beauty—which exclude disability (see Morris)—are communicated from childhood (Blair & Shalmon 15). Notions of bodily perfection dominate children’s toys and Western culture in general as Cresswell comments above. Many bodies, not just those deemed “disabled,” do not conform to these cultural standards. Cultural ideals of beauty and an idealisation of the human body according to increasingly narrow parameters are becoming conflated with conceptions of normality (Wendell 86). Recognition of disability as subject to cultural rejection allows us to see “beauty and normalcy [as] a series of practices and positions [taken] in order to avoid the stigmatization of ugliness and abnormality” (Garland-Thompson). The exaggerated features of the doll problematise the idea that people with disability should strive to appear as nondisabled as possible and in turn highlights that some people, such as those with Down Syndrome, cannot “pass” as nondisabled and must therefore navigate a life and community that is not welcoming. While lists of the features of Down Syndrome store associated medicalised meanings, the discussion of the dolls online (the medium through which they are sold) provides insight into the cultural interpretation of disability and the way meaning is made. The next section of the paper considers a selection of negative responses to the Down Syndrome dolls that followed an article published in Mail Online (Fisher). What Causes Offence? Prior to Down Syndrome dolls, the majority of “disability dolls” were constructed through their accessories rather than through the dolls’ physical form and features. Wheelchairs, white canes, guide dogs and harnesses, plastic walkers, leg braces, and hearing aids could be purchased for use with dolls. Down Syndrome dolls look different as the features of impairment are embedded in the dolls’ construction. While accessories have a more temporary feel about them, the permanence of the impairments attributed to the doll was problematic for some who felt it projected a negative image of disability. Listed below are several negative comments following an article published in Mail Online (Fisher):What a grim world we are living in. No longer are dollies for play, for make believe, or for fun. Now it all about self image and psychological “help.” We “disabled” know we are “disabled”—we don’t need a doll to remind us of that! Stop making everything PC; let children be children and play and laugh once again!I think it’s sick and patronising.Who on earth are those education “experts?” Has nobody told them that you don’t educate children by mirroring their defects/weaknesses/negative traits but by doing exactly the opposite, mirroring back the BEST in them?The Downs Syndrome doll looks like they took the physical traits and presented them in an exaggerated way to make them more noticeable. That doll does not look attractive to me at all. If someone has a child that WANTS such a doll, fine. I can’t really see how it would help many of them, it would be like a huge sign saying “You are different.”The terminology used (grim, sick, patronising, defect, weak, negative, unattractive, different) to describe disability in these posts is significant. These descriptions are ideological categories which disadvantage and devalue “bodies that do not conform to certain cultural standards” (Garland-Thompson). Implicit and explicit in all of these comments is the sense that disability and Downs Syndrome in particular is undesirable, unattractive even. When listed together, like Belknap’s literary lists, they are not random or isolated interpretations; they form part of a larger system of meaning making around disability.These responses are informed by the notion that in order to gain equality in society, people with disability must suppress their difference and focus instead on how they are really just like everybody else. However, this focus ignores barriers to inclusion, such as in the rejection of bodies that do not ascribe to cultural standards of beauty. An increasing visibility of impairment in popular culture such as children’s toys advances an understanding of disability as diversity through difference and not something inherently bad. ConclusionPeter Laudin of Pattycake Doll, a company which sells Black, Hispanic, Asian, and Disabled dolls, has found that children “love all dolls unconditionally whether it’s special needs or not” (Lee Adam). He suggests that the majority of the negative responses to the Down Syndrome dolls stem from prejudice (Lee Adam). Dolls popularly available idealise the human form and assume a normative representation. While this has been criticised for communicating damaging standards of beauty from childhood (Levy, Blair and Shalmon), critiques about disability are not as widely understood. The social and medical models of disability focus attention on certain aspects of disability through lists; however, the reduction of diagnostic criteria in the form of a list (whether medical or social) decontextualises disability from the social and cultural world. Thus, the list form, while useful, has elided the disparate qualities of disability. As Belknap argues, lists “ask us to make them meaningful” (xv). Although the dolls discussed in this paper have been criticised for stereotyping and emphasising the difference between children with disability and those without, an inclusion of the physical features of Down Syndrome is consistent with recent moves within critical disability studies to re-engage the body (Shakespeare 35). As Faulkner notes in the epigraph to this paper, an examination of negative reactions to these dolls reveals much about the cultural position of people with disability. References Abbasi, Jennifer. “Why 6-Year Old Girls Want to be Sexy.” Live Science 16 July (2012). 30 Aug. 2012 ‹http://www.livescience.com/21609-self-sexualization-young-girls.html›. Barnes, Colin. Disabling Imagery and the Media: An Exploration of the Principles for Media Representations of Disabled People. Krumlin Halifax: Ryburn Publishing, 1992. 5 Aug. 2012 http://www.leeds.ac.uk/disability-studies/archiveuk/Barnes/disabling%20imagery.pdf.Barnes, Colin, Geoff Mercer, and Tom Shakespeare. Exploring Disability: A Sociological Introduction. Malden: Polity Press, 1999.Belknap, Robert. The List: The Uses and Pleasures of Cataloguing. New Haven: Yale U P, 2004.Blair, Lorrie, and Maya Shalmon. “Cosmetic Surgery and the Cultural Construction of Beauty.” Art Education 58.3 (2005): 14-18.Cafferty, Diana De Rosa. A Doll Like Me: Do Children with Down Syndrome Prefer to Play with Dolls That Have the Physical Features Associated with Down Syndrome? MS thesis. U of California, 2012. Campbell, Fiona Kumari. Contours of Ableism: The Production of Disability and Abledness. New York: Palgrave Macmillan, 2009.Collins, Allyson. “Dolls with Down Syndrome May Help Kids.” ABC News. 27 Jun. 2008. 4 Oct. 2012 ‹http://abcnews.go.com/Health/Parenting/story?id=5255393&page=1#.UGzQXK6T-XP›. Cresswell, Adam. “Dolls with Disability Divide Opinion.” The Australian 12 Jul. 2008. 26 Dec. 2008 ‹http://www.theaustralian.news.com.au/story/0,25197,24000338-23289,00.html›.Down, John Langdon. “Observations on an Ethnic Classification of Idiots.” Neonatology on the Web. 1866. 3 Aug. 2012 ‹http://www.neonatology.org/classics/down.html›.Faulkner, Joanne “Disability Dolls.” What Sorts of People? 26 Jun. 2008. 29 Aug. 2012 ‹http://whatsortsofpeople.wordpress.com/2008/06/26/disability-dolls/›.Finkelstein, Vic. “Representing Disability.” Disabling Barriers—Enabling Environments. Ed. John Swain, et al. Los Angeles: Sage, 2004. 13-20.Fisher, Lorraine. “Parents’ Fury at ‘Down's Syndrome Dolls’ Designed to Help Children Deal with Disability.” Mail Online 7 Jul. 2008. 26 Dec. 2008. ‹http://www.dailymail.co.uk/femail/article-1032600/Parents-fury-Downs-Syndrome-dolls-designed-help-children-deal-disability.html›. Garland-Thomson, Rosemarie. “Re-Shaping, Re-Thinking, Re-Defining: Feminist Disability Studies.” The Free Library 1 Jan. 2008. 3 Aug. 2012. ‹http://www.thefreelibrary.com/Re-shaping, Re-thinking, Re-defining: Feminist Disability Studies.-a084377500›.Goggin, Gerard and Christopher Newell. Disability in Australia: Exposing a Social Apartheid. Sydney: U of New South Wales, 2005.Hareyan, Armen. “Using Dolls to Reduce the Stigma of Down Syndrome.” EMax Health. 4 Dec. 2008. Jan 2009 ‹http://www.emaxhealth.com/7/22865.html›.Hedlund, Marianne. “Disability as a Phenomenon: A Discourse of Social and Biological Understanding.” Disability & Society. 15.5 (2000): 765-80.Hickey-Moody, Anna. Unimaginable Bodies. Netherlands: Sense Publishers, 2009.Lee Adams, William. “New Dolls on the Block.” Time Magazine 19 Mar. 2009. 13 Dec. 2009. ‹http://www.time.com/time/magazine/article/0,9171,1886457,00.html›.Levy, Ariel. Female Chauvinist Pigs: Women and the Rise of Raunch Culture. Collingwood: Black Inc. 2010.Liggett, Helen. “Stars are not Born: An Interpretive Approach to the Politics of Disability” in Disability Studies: Past Present and Future. Ed. Len Barton and Mike Oliver. Leeds: The Disability Press, 1997. 178-194.Mitchell, David and Sharon Snyder. Narrative Prosthesis: Disability and the Dependencies of Discourse. Ann Arbor, The U of Michigan P, 2000.Morris, Jenny “A Feminist Perspective.” Framed. Ed. Ann Pointon & Chris Davies. London: British Film Institute, 1997. 21-30. Oliver, Michael. Understanding Disability: From Theory to Practice. New York: Palgrave Macmillan, 1996.Parks, Helga. “New Doll Is Child’s Best Friend.” HEST Press Release, 2005. Shakespeare, Tom. Disability Rights and Wrongs. London: Routledge, 2006.Snyder, Sharon, and David Mitchell. “Re-Engaging the Body: Disability Studes and the Resistance to Embodiment.” Public Culture 13.3 (2001): 367-89.Velasquez, Leticia. “Downi Creations.” 2007. 4 Dec. 2009. ‹http://cause-of-our-joy.blogspot.com/2007/08/downi-creations.html›.Wendell, Susan. The Rejected Body: Feminist Philosophical Reflections on Disability. New York: Routledge, 1996.Wolf, Naomi. The Beauty Myth: How Images of Beauty Are Used against Women. New York: Harper Perennial, 2002 [1991].