Academic literature on the topic 'Parental genome'

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Journal articles on the topic "Parental genome"

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Cattanach, B. M. "Parental origin effects in mice." Development 97, Supplement (October 1, 1986): 137–50. http://dx.doi.org/10.1242/dev.97.supplement.137.

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Nuclear transplantation experiments in mice, reviewed elsewhere in this Symposium, have clearly demonstrated that the maternal and paternal genomes from which the embryo is formed are not functionally equivalent. The paternal genome appears to be essential for the normal development of extraembryonic tissues and the maternal genome for some stage of embryonic development. These findings provide some explanation for the observations that in mammals diploid parthenotes possessing two maternal genomes fail to survive (Markert, 1982) and that, in man, embryos with two paternal chromosome sets are inviable, forming hydatidiform moles (Kajii & Ohama, 1977). It has been proposed that a specific ‘imprinting’ of the paternal genomes occurs during gametogenesis so that the presence of both a female and male pronculeus is essential in an egg for full-term development (Barton, Surani & Norris, 1984; McGrath & Solter, 1984a; Surani, Barton & Norris, 1984).
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Bento, Miguel, J. Perry Gustafson, Wanda Viegas, and Manuela Silva. "Size matters in Triticeae polyploids: larger genomes have higher remodeling." Genome 54, no. 3 (March 2011): 175–83. http://dx.doi.org/10.1139/g10-107.

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Polyploidization is one of the major driving forces in plant evolution and is extremely relevant to speciation and diversity creation. Polyploidization leads to a myriad of genetic and epigenetic alterations that ultimately generate plants and species with increased genome plasticity. Polyploids are the result of the fusion of two or more genomes into the same nucleus and can be classified as allopolyploids (different genomes) or autopolyploids (same genome). Triticeae synthetic allopolyploid species are excellent models to study polyploids evolution, particularly the wheat–rye hybrid triticale, which includes various ploidy levels and genome combinations. In this review, we reanalyze data concerning genomic analysis of octoploid and hexaploid triticale and different synthetic wheat hybrids, in comparison with other polyploid species. This analysis reveals high levels of genomic restructuring events in triticale and wheat hybrids, namely major parental band disappearance and the appearance of novel bands. Furthermore, the data shows that restructuring depends on parental genomes, ploidy level, and sequence type (repetitive, low copy, and (or) coding); is markedly different after wide hybridization or genome doubling; and affects preferentially the larger parental genome. The shared role of genetic and epigenetic modifications in parental genome size homogenization, diploidization establishment, and stabilization of polyploid species is discussed.
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Pustovalova, Eleonora, Lukaš Choleva, Dmytro Shabanov, and Dmitrij Dedukh. "The high diversity of gametogenic pathways in amphispermic water frog hybrids from Eastern Ukraine." PeerJ 10 (August 23, 2022): e13957. http://dx.doi.org/10.7717/peerj.13957.

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Interspecific hybridization can disrupt canonical gametogenic pathways, leading to the emergence of clonal and hemiclonal organisms. Such gametogenic alterations usually include genome endoreplication and/or premeiotic elimination of one of the parental genomes. The hybrid frog Pelophylax esculentus exploits genome endoreplication and genome elimination to produce haploid gametes with chromosomes of only one parental species. To reproduce, hybrids coexist with one of the parental species and form specific population systems. Here, we investigated the mechanism of spermatogenesis in diploid P. esculentus from sympatric populations of P. ridibundus using fluorescent in situ hybridization. We found that the genome composition and ploidy of germ cells, meiotic cells, and spermatids vary among P. esculentus individuals. The spermatogenic patterns observed in various hybrid males suggest the occurrence of at least six diverse germ cell populations, each with a specific premeiotic genome elimination and endoreplication pathway. Besides co-occurring aberrant cells detected during meiosis and gamete aneuploidy, alterations in genome duplication and endoreplication have led to either haploid or diploid sperm production. Diploid P. esculentus males from mixed populations of P. ridibundus rarely follow classical hybridogenesis. Instead, hybrid males simultaneously produce gametes with different genome compositions and ploidy levels. The persistence of the studied mixed populations highly relies on gametes containing a genome of the other parental species, P. lessonae.
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Kotseruba, Violetta, Dorota Gernand, Armin Meister, and Andreas Houben. "Uniparental loss of ribosomal DNA in the allotetraploid grass Zingeria trichopoda (2n = 8)." Genome 46, no. 1 (February 1, 2003): 156–63. http://dx.doi.org/10.1139/g02-104.

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Analysis of the grass Zingeria trichopoda (2n = 8, 2C = 5.3 pg) revealed a dynamic evolution with the following characteristics. (i) Genomic in situ hybridization (GISH) demonstrates that Z. trichopoda evolved from an interspecific hybrid involving a species like contemporary Zingeria biebersteiniana (2n = 4) and a second species with a similar low number of chromosomes. The nucleus of Z. trichopoda is spatially organized at the genome level and the two parental genomes occupy distinct and separate domains of lateral arrangements. (ii) The copy number of the Z. biebersteiniana specific pericentromeric tandem repeat family Zbcen1 is drastically reduced in Z. trichopoda. (iii) GISH in combination with labeled rDNA sequences simultaneously discriminated the two parental genomes and the corresponding 5S and 45S rDNA sites. Hence, following allopolyploidization of Z. trichopoda the Z. biebersteiniana like parental chromosomes probably underwent drastic loss of 45S rDNA. This could have arisen either through the loss ofZ. biebersteiniana derived 45S rDNA or through Z. trichopoda genome-wide homogenization of Z. biebersteiniana type 45S rDNA and subsequent elimination of 45S rDNA loci from Z. biebersteiniana derived chromosomes. Finally, 5S rDNA loci are present in both subgenomes of Z. trichopoda and the chromosomal position of these loci is similar for both Z. biebersteiniana and the Z. biebersteiniana like parental genome of Z. trichopoda.Key words: genome evolution, polyploidy, ribosomal DNA, Poaceae.
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Dedukh, Dmitrij, Sergey Riumin, Krzysztof Kolenda, Magdalena Chmielewska, Beata Rozenblut-Kościsty, Mikołaj Kaźmierczak, Maria Ogielska, and Alla Krasikova. "Maintenance of pure hybridogenetic water frog populations: Genotypic variability in progeny of diploid and triploid parents." PLOS ONE 17, no. 7 (July 6, 2022): e0268574. http://dx.doi.org/10.1371/journal.pone.0268574.

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An intriguing outcome of hybridisation is the emergence of clonally and hemiclonally reproducing hybrids, that can sustain, reproduce, and lead to the emergence of polyploid forms. However, the maintenance of diploid and polyploid hybrid complexes in natural populations remains unresolved. We selected water frogs from the Pelophylax esculentus complex to study how diploid and triploid hybrids, which reproduce hemiclonally via hybridogenesis, are maintained in natural populations. During gametogenesis in diploid hybrids, one of the parental genomes is eliminated, and the remaining genome is endoreplicated. In triploid hybrids, the single-copy genome is typically eliminated, while genome endoreplication does not occur. To investigate how diploid and triploid hybrid frogs reproduce in populations without parental species, we crossed these hybrid animals from two separate pure hybrid populations located in Poland. Using cytogenetic analysis of tadpoles that emerged from the crosses, we established which gametes were produced by parental hybrids. The majority of hybrid females and hybrid males produced one type of gamete with the P. ridibundus genome. However, in both studied populations, approximately half of the diploid and triploid hybrids simultaneously produced gametes with different genome compositions and ploidy levels, specifically, the P. ridibundus and P. lessonae genomes, as well as diploid gametes with genomes of both parental species. Triploid hybrid males and females mostly produced haploid gametes with the P. lessonae genome; however, gametes with the P. ridibundus genome have also been observed. These results suggest that not all hybrids follow the classical hybridogenetic reproduction program and reveal a significant level of alterations in the gametogenesis pathways. In addition, we found a variable survival rate of particular progeny genotypes when we crossed hybrid females with different males suggesting the important role of postzygotic barriers on the maintenance of pure hybrid systems. We suggest that the observed variability in produced gametes and the different survival rate of the progeny with certain genotypes is crucial for the existence of pure hybrid systems.
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Adams, S., R. Vinkenoog, M. Spielman, H. G. Dickinson, and R. J. Scott. "Parent-of-origin effects on seed development in Arabidopsis thaliana require DNA methylation." Development 127, no. 11 (June 1, 2000): 2493–502. http://dx.doi.org/10.1242/dev.127.11.2493.

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Some genes in mammals and flowering plants are subject to parental imprinting, a process by which differential epigenetic marks are imposed on male and female gametes so that one set of alleles is silenced on chromosomes contributed by the mother while another is silenced on paternal chromosomes. Therefore, each genome contributes a different set of active alleles to the offspring, which develop abnormally if the parental genome balance is disturbed. In Arabidopsis, seeds inheriting extra maternal genomes show distinctive phenotypes such as low weight and inhibition of mitosis in the endosperm, while extra paternal genomes result in reciprocal phenotypes such as high weight and endosperm overproliferation. DNA methylation is known to be an essential component of the parental imprinting mechanism in mammals, but there is less evidence for this in plants. For the present study, seed development was examined in crosses using a transgenic Arabidopsis line with reduced DNA methylation. Crosses between hypomethylated and wild-type diploid plants produced similar seed phenotypes to crosses between plants with normal methylation but different ploidies. This is consistent with a model in which hypomethylation of one parental genome prevents silencing of alleles that would normally be active only when inherited from the other parent - thus phenocopying the effects of extra genomes. These results suggest an important role for methylation in parent-of-origin effects, and by inference parental imprinting, in plants. The phenotype of biparentally hypomethylated seeds is less extreme than the reciprocal phenotypes of uniparentally hypomethylated seeds. The observation that development is less severely affected if gametes of both sexes (rather than just one) are ‘neutralized’ with respect to parent-of-origin effects supports the hypothesis that parental imprinting is not necessary to regulate development.
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Lukhtanov, Vladimir A., Nazar A. Shapoval, Boris A. Anokhin, Alsu F. Saifitdinova, and Valentina G. Kuznetsova. "Homoploid hybrid speciation and genome evolution via chromosome sorting." Proceedings of the Royal Society B: Biological Sciences 282, no. 1807 (May 22, 2015): 20150157. http://dx.doi.org/10.1098/rspb.2015.0157.

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Genomes of numerous diploid plant and animal species possess traces of interspecific crosses, and many researches consider them as support for homoploid hybrid speciation (HHS), a process by which a new reproductively isolated species arises through hybridization and combination of parts of the parental genomes, but without an increase in ploidy. However, convincing evidence for a creative role of hybridization in the origin of reproductive isolation between hybrid and parental forms is extremely limited. Here, through studying Agrodiaetus butterflies, we provide proof of a previously unknown mode of HHS based on the formation of post-zygotic reproductive isolation via hybridization of chromosomally divergent parental species and subsequent fixation of a novel combination of chromosome fusions/fissions in hybrid descendants. We show that meiotic segregation, operating in the hybrid lineage, resulted in the formation of a new diploid genome, drastically rearranged in terms of chromosome number. We also demonstrate that during the heterozygous stage of the hybrid species formation, recombination was limited between rearranged chromosomes of different parental origin, representing evidence that the reproductive isolation was a direct consequence of hybridization.
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Mandáková, Terezie, Judita Zozomová-Lihová, Hiroshi Kudoh, Yunpeng Zhao, Martin A. Lysak, and Karol Marhold. "The story of promiscuous crucifers: origin and genome evolution of an invasive species, Cardamine occulta (Brassicaceae), and its relatives." Annals of Botany 124, no. 2 (March 14, 2019): 209–20. http://dx.doi.org/10.1093/aob/mcz019.

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Abstract Background and Aims Cardamine occulta (Brassicaceae) is an octoploid weedy species (2n = 8x = 64) originated in Eastern Asia. It has been introduced to other continents including Europe and considered to be an invasive species. Despite its wide distribution, the polyploid origin of C. occulta remained unexplored. The feasibility of comparative chromosome painting (CCP) in crucifers allowed us to elucidate the origin and genome evolution in Cardamine species. We aimed to investigate the genome structure of C. occulta in comparison with its tetraploid (2n = 4x = 32, C. kokaiensis and C. scutata) and octoploid (2n = 8x = 64, C. dentipetala) relatives. Methods Genomic in situ hybridization (GISH) and large-scale CCP were applied to uncover the parental genomes and chromosome composition of the investigated Cardamine species. Key Results All investigated species descended from a common ancestral Cardamine genome (n = 8), structurally resembling the Ancestral Crucifer Karyotype (n = 8), but differentiated by a translocation between chromosomes AK6 and AK8. Allotetraploid C. scutata originated by hybridization between two diploid species, C. parviflora and C. amara (2n = 2x = 16). By contrast, C. kokaiensis has an autotetraploid origin from a parental genome related to C. parviflora. Interestingly, octoploid C. occulta probably originated through hybridization between the tetraploids C. scutata and C. kokaiensis. The octoploid genome of C. dentipetala probably originated from C. scutata via autopolyploidization. Except for five species-specific centromere repositionings and one pericentric inversion post-dating the polyploidization events, the parental subgenomes remained stable in the tetra- and octoploids. Conclusions Comparative genome structure, origin and evolutionary history was reconstructed in C. occulta and related species. For the first time, whole-genome cytogenomic maps were established for octoploid plants. Post-polyploid evolution in Asian Cardamine polyploids has not been associated with descending dysploidy and intergenomic rearrangements. The combination of different parental (sub)genomes adapted to distinct habitats provides an evolutionary advantage to newly formed polyploids by occupying new ecological niches.
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Reik, Wolf, and Jörn Walter. "Genomic imprinting: parental influence on the genome." Nature Reviews Genetics 2, no. 1 (January 2001): 21–32. http://dx.doi.org/10.1038/35047554.

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Ma, Xue-Feng, and J. Perry Gustafson. "Timing and rate of genome variation in triticale following allopolyploidization." Genome 49, no. 8 (August 1, 2006): 950–58. http://dx.doi.org/10.1139/g06-078.

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The timing and rate of genomic variation induced by allopolyploidization in the intergeneric wheat-rye (Triticum spp. – Secale cereale L.) hybrid triticale (× Triticosecale Wittmack) was studied using amplified fragment length polymorphism (AFLP) analyses with 2 sets of primers, EcoRI–MseI (E–M) and PstI–MseI (P–M), which primarily amplify repetitive and low-copy sequences, respectively. The results showed that allopolyploidization induced genome sequence variation in triticale and that a great degree of the genome variation occurred immediately following wide hybridization. Specifically, about 46.3% and 36.2% of the wheat parental band loss and 74.5% and 68.4% of the rye parental band loss occurred in the F1 hybrids (before chromosome doubling) for E–M and P–M primers, respectively. The sequence variation events that followed chromosome doubling consisted of continuous modifications that occurred at a very small rate compared with the rate of variation before chromosome doubling. However, the rate of sequence variation involving the rye parental genome was much higher in the first 5 generations following chromosome doubling than in any subsequent generation. Surprisingly, the highest rate of rye genomic variation occurring after chromosome doubling was in C3 or later, but not in C1. The data suggested that the cytoplasm and the degree of the relationship between the parental genomes were the key factors in determining the direction, amount, timing, and rate of genomic sequence variation occurring during intergeneric allopolyploidization.Key words: genome evolution, sequence variation, allopolyploid, triticale, AFLP.
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Dissertations / Theses on the topic "Parental genome"

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Ajjan, Sophie. "Formes atypiques d'empreinte génomique : transitoire, tissu-spécifique et lignée-spécifique." Thesis, Paris 6, 2015. http://www.theses.fr/2015PA066251/document.

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Les gènes soumis à empreinte (GSE) se distinguent du reste du génome par une expression mono-allélique et parent-spécifique. Cette forme de régulation génique dépend de marques de méthylation différentielles héritées des gamètes parentaux au niveau de régions cis-régulatrices appelées ICR (« Imprinting Control Region »). Une centaine de GSE contrôlés par 20 ICR ont été répertoriés chez la souris et sont en général conservés chez l’Homme. Mon projet de thèse a consisté à caractériser de nouvelles ICR maternelles et à analyser leur impact sur la régulation génique, à partir d’un criblage génomique de méthylation réalisé chez la souris. J’ai ainsi participé à la révélation de l’existence de trois formes d’empreinte, qui résultent de sensibilité différente des ICR face aux changements développementaux des profils de méthylation génomique: 1) une empreinte persistante tout au long de la vie et ubiquitaire, qui caractérise les ICR classiques déjà connues, 2) transitoire, avec une existence limitée au développement pré-implantatoire, et 3) persistante tout au long de la vie mais tissu-spécifique. Plus précisément, j’ai déterminé les profils d’histones associées aux ICR des loci Cdh15 et Gpr1/Zdbf2, et mis en évidence la conservation de l’empreinte transitoire au locus GPR1/ZDBF2 chez l’humain. Je me suis ensuite focalisée sur l’ICR candidate associée au gène Socs5, dont l’empreinte s’est avérée être tissu-spécifique mais également, de façon inédite, polymorphique en fonction des lignées de souris. Cette ICR en position intragénique présente les caractéristiques d’une séquence « enhancer », hypothèse que je teste actuellement par invalidation fonctionnelle (système CRISPR/Cas9) chez la souris. La découverte de ces formes atypiques d’empreinte génomique permet de mieux cerner l’étendue du phénomène d’empreinte parentale et d’évaluer son impact sur les phénotypes
Genomic imprinting refers to the functional non-equivalence of the two parental genomes in mammals. Imprinted genes are expressed only from the paternal or maternal allele: this mono-allelic expression is regulated by parent-inherited DNA methylation of specific cis-regulatory regions called ICRs (Imprinting Control Regions). There are currently around 120 imprinted genes known in the mouse genome, which are under the control of 20 characterized ICRs, and are generally conserved in Human. My thesis project aimed at characterizing new maternal ICRs and at analyzing their impact on gene regulation, based on a genome-wide methylation screen conducted in the mouse. I participated to revealing the existence of three forms of genomic imprinting, which reflects variable susceptibility to developmentally-regulated DNA methylation changes: 1) ubiquitous and life-long imprinting, which refers to the 20 canonical ICRs, 2) transient, whose existence is limited to preimplantation development, and 3) tissue-specific. More specifically, I deciphered the histone modification profiles of two new maternal ICR associated with the Cdh15 and the Gpr1/Zdbf2 loci and confirmed that the GPR1/ZDBF2 locus is also subject to transient imprinting in Human. My main achievement concerns the characterization of a candidate ICR associated with the Socs5 gene, which I found to be tissue-specific but also strain-specific, pointing towards a new form of imprinting polymorphism. This ICR has an intragenic position and has the characteristics of an enhancer, hypothesis that I am functionally testing in vivo by a CRISPR/Cas9-mediated deletion. The discovery of these new forms of genomic imprinting provides a better understanding of this phenomenon and its impact on phenotypes
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Li, Karen Christine. "Supporting decision-making in whole genome/exome sequencing : parents' perspectives." Thesis, University of British Columbia, 2014. http://hdl.handle.net/2429/50835.

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Whole genome sequencing/exome sequencing (WGS/ES) technology is becoming more affordable and accessible, and will become more frequently used in various clinical settings, including for diagnosing rare childhood diseases. However, its use means that parents face decisions that could uncover life-altering information, unrelated to their child’s illness that may also have personal and ethical implications for their families. The purpose of this study is to explore and describe parents’ perceptions of their decisional needs when deciding on WGS/ES for their child. The qualitative methodological approach known as Interpretive Description, the concept of shared decision-making and the Ottawa Decision Support Framework were used to inform and guide this study. Parents of children who had previously undergone WGS/ES informed consent were invited to participate in a focus group or individual in-person or telephone interviews. Parents had children with a range of undiagnosed conditions suspected to be genetic in origin. 15 parents were interviewed and transcriptions were analyzed concurrently and iteratively. Repeat interviews were conducted with 5 of the parents to confirm, challenge or expand on the developing conceptualizations. Participants felt that their decision to proceed with WGS/ES for their child was easy. However, they expressed many unresolved decisional needs including: a lack of knowledge about certain topics that became relevant and important to them later, unmet expectations, and a need for more support and resources. Participants also acknowledged that the high volume of information and urgency of their circumstances may have caused them to be less receptive (or even unreceptive) to information during their WGS/ES decision-making (DM) process. Additionally, participants had ongoing informational and psychosocial needs beyond the single clinical encounter where their WGS/ES DM occurred. The content and amount of information that participants considered to be important varied. Prior to the widespread use of clinical WGS/ES, parents’ perspectives about their decisional needs should be considered in order to implement parent-tailored education, counselling, decision support and informed consent processes.
Applied Science, Faculty of
Nursing, School of
Graduate
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McLeod, Donald Angus. "Comparison of the RNA genomes of persistent and parental strains of human coronavirus 229E." Thesis, University of Ottawa (Canada), 1985. http://hdl.handle.net/10393/4791.

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Diedericks, Angelique. "Parental Perspectives Regarding the Return of Genomic Findings in NeuroDevelopmental Disorders – A South African Study." Master's thesis, Faculty of Health Sciences, 2020. http://hdl.handle.net/11427/32233.

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Introduction: There is a lack of policies and research regarding the disclosure of results in genomic research, especially in South Africa. Challenges remain regarding the disclosure of genomic research results to research participants and their families, which may partly be addressed by considering parental and participants' preferences. This study serves as a sub-study to the NeuroDev study which is performing genotyping and exome sequencing on children with NeuroDevelopmental disorders in the Western Cape; and will investigate a feedback of findings method pertaining to the needs and preferences of the patient community. Aims: To investigate parents' understanding of the genomic research study they are participating in as well as their preferences regarding the feedback process and anticipated contributions of significant genetic findings generated by the NeuroDev study. This study further hopes to inform a tailored feedback policy reflecting the needs of this South African population. Research Design: A pragmatic qualitative approach was used by conducting 12 semi-structured interviews with 17 parents of children participating in the NeuroDev study. Purposive sampling was used, selecting retrospectively from patients recruited for the NeuroDev study in which findings of de novo, significant mutations are more likely expected. Interviews were conducted in English, in a private setting at Red Cross War Memorial Children's Hospital (RCWMCH), and were audio-recorded by the researcher; observations and field notes were documented. Generated data was analyzed using thematic analysis to generate themes and transcripts were imported into NVivo 12 to assist with managing and organizing the data for analysis. Ethical approval was been obtained from the University of Cape Town (UCT) (HREC 784/2018). Results: Empiric data collection ran from May to July 2019 and preliminary data was presented at the NeuroDev AGM and on a poster at the SASHG conference, RCWMCH research open day and UCT postgraduate research day. Findings were that the parents of the participants understood the study they were participating in as well as basic concepts of genetics, however, parental understanding over the cause of their child's condition remains a source of confusion when pertaining to their understanding of genetics being ‘passed down the family lineage' and how that integrates with de novo mutations. Furthermore, there is potential for it to impact on feelings of guilt. Parents have a need for information, discovering the cause of their child's condition and to be involved in the research process with full disclosure as events unfold. Altruism seems to be a major motivator for participating in genomics research but personal and family benefit also served to be a key driver in that research results could potentially provide awareness and information regarding their child's condition, the management thereof and recurrence risk in future. Participants in this study want pertinent research results which could offer closure, acceptance and relief, however, differences over the meaning of such results were observed between those whose child already had a diagnosis versus those whose child remained undiagnosed. Furthermore, receiving non-pertinent and negative result was still perceived to be meaningful for some. Further diversity was observed in parental preferences for the explanation of preliminary results. Discussion: Given that non-pertinent results still hold value for participants, consideration should be given as to more extensive ways of communicating this if such results are not to be returned since results are generally viewed as a point of access to information or relating to their child's condition. Diverse preferences regarding when and what participants want to know for results feedback needs to be addressed in order to facilitate a guidance framework for the delivery of genomic research results and can perhaps take the form of a tiered-consent model for feedback of incidental findings. As such, genetic counsellors may have a valuable role to play in facilitating participant satisfaction and bridging the gap between researchers and public expectations. Ethical considerations: Consent was taken before commencement of the study. There were no risks with regards to participating in this study and participants had the freedom to withdraw at any time and at their own discretion.
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Rieusset, Anne. "Caractérisation de la plasticité épigénétique du gène Necdin/NECDIN impliqué dans le syndrome de Prader-Willi et de ses conséquences fonctionnelles sur le phenotype." Thesis, Aix-Marseille, 2013. http://www.theses.fr/2013AIXM4039.

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Le syndrome de Prader-Willi est une maladie génétique rare. Les gènes candidats au SPW, dont le gène Necdin, sont régulés par l'empreinte génomique parentale : seul l'allèle paternel de ces gènes est exprimé, l'allèle maternel étant silencieux. Notre équipe a généré un modèle murin pour lequel l'allèle paternel de Necdin a été désactivé (+m/-p) et qui présente des similarités phénotypiques avec les patients PW. Ce phénotype est plus drastique chez les animaux -/-. Nous avons alors émis l'hypothèse que l'allèle maternel puisse avoir un rôle fonctionnel dans la survie des souris (+m/-p). L'expression de l'allèle maternel de Necdin est présente dans le système nerveux des souris (+m/-p). Cette expression, bien que faible au niveau transcriptionnel, est suffisante pour produire la protéine Necdin, ce qui a des conséquences cellulaires et physiologiques qui in fine permettent une amélioration du phénotype. Cette perte de silence de l'allèle maternel est également détectée dans l'hypothalamus de patients PW. Ces résultats révèlent une plasticité épigénétique inattendue qui permet d'envisager des perspectives thérapeutiques
The Prader-Willi Syndrome (PWS) is a rare genetic disorder. Several genes, including NECDIN gene, are involved in the PWS. These genes are regulated by the genomic imprinting mechanism: only the paternal allele of these genes is expressed, their maternal allele being silenced. Our team has generated a mouse model in which the paternal allele of the Necdin gene has been deactivated (+m/-p). This model presents phenotypical similarities with PWS patients. We observed that mortality affects more -/- pups than +m/-p mice. Therefore we venture the hypothesis of a functional role of the maternal allele in mutant mice survival. We showed an expression of this allele in the nervous system of +m/-p mice. Though transcriptionnally low, that is sufficient to produce the Necdin protein and provoke cellular as well as physiological consequences that actively improve the phenotype. Importantly, a specific expression of the maternal NECDIN allele is also detected in hypothalamic brain sections of PWS patients. These results reveal an unexpected epigenetic flexibility that allow to contemplate a therapeutic pharmacological prospect
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Idleburg, Michaela. "Assessment of a Video on Genome Testing Expectations and Results: Parent and Adolescent Views and Understanding." University of Cincinnati / OhioLINK, 2018. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1525171341700198.

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Rashkin, Misha Dmitry Shepard. "Attitudes toward Whole Genome Sequencing among Parents of Children with Autism Spectrum Disorder| A Qualitative Interview Study." Thesis, Icahn School of Medicine at Mount Sinai, 2013. http://pqdtopen.proquest.com/#viewpdf?dispub=1537181.

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Background: Whole genome sequencing (WGS) is increasingly used for research and clinical purposes. This study explored attitudes of parents of children with a suspected autism spectrum disorder (ASD) toward WGS. Methods: A topic guide informed by the Theory of Planned Behavior was developed covering perceived benefits, concerns, barriers, and facilitators regarding WGS. Participants also summarized likely major factors in their decision. Interviews were audio-recorded, transcribed and analyzed for themes using framework analysis. Results: Participants (n=10) were generally in favor of WGS. The most recurring themes were: helping their affected child; concerns that secondary findings could be emotionally overwhelming; facilitators relating to access, e.g. living near a major medical center. When summarizing, money/insurance issues were most raised; this was also the most recurring barrier. Conclusion: Parents of children with ASD were enthusiastic but also expressed concerns about WGS. These findings will be useful to future research with this and other populations.

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Hore, Timothy Alexander, and timothy hore@anu edu au. "THE EVOLUTION OF GENOMIC IMPRINTING AND X CHROMOSOME INACTIVATION IN MAMMALS." The Australian National University. Research School of Biological Sciences, 2008. http://thesis.anu.edu.au./public/adt-ANU20081216.152553.

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Genomic imprinting is responsible for monoallelic gene expression that depends on the sex of the parent from which the alleles (one active, one silent) were inherited. X-chromosome inactivation is also a form of monoallelic gene expression. One of the two X chromosomes is transcriptionally silenced in the somatic cells of females, effectively equalising gene dosage with males who have only one X chromosome that is not complemented by a gene poor Y chromosome. X chromosome inactivation is random in eutherian mammals, but imprinted in marsupials, and in the extraembryonic membranes of some placentals. Imprinting and X inactivation have been studied in great detail in placental mammals (particularly humans and mice), and appear to occur also in marsupial mammals. However, both phenomena appear to have evolved specifically in mammals, since there is no evidence of imprinting or X inactivation in non-mammalian vertebrates, which do not show parent of origin effects and possess different sex chromosomes and dosage compensation mechanisms to mammals.¶ In order to understand how imprinting and X inactivation evolved, I have focused on the mammals most distantly related to human and mouse. I compared the sequence, location and expression of genes from major imprinted domains, and genes that regulate genomic imprinting and X-chromosome inactivation in the three extant mammalian groups and other vertebrates. Specifically, I studied the evolution of an autosomal region that is imprinted in humans and mouse, the evolution of the X-linked region thought to control X inactivation, and the evolution of the genes thought to establish and control differential expression of various imprinted loci. This thesis is presented as a collection of research papers that examines each of these topics, and a review and discussion that synthesizes my findings.¶ The first paper reports a study of the imprinted locus responsible for the human Prader-Willi and Angelman syndromes (PWS and AS). A search for kangaroo and platypus orthologues of PWS-AS genes identified only the putative AS gene UBE3A, and showed it was in a completely different genomic context to that of humans and mice. The only PWS gene found in marsupials (SNRPN) was located in tandem with its ancient paralogue SNRPB, on a different chromosome to UBE3A. Monotremes apparently have no orthologue of SNRPN. The several intronless genes of the PWS-AS domain also have no orthologues in marsupials or monotremes or non-mammal vertebrates, but all have close paralogues scattered about the genome from which they evidently retrotransposed. UBE3A in marsupials and monotremes, and SNRPN in marsupials were found to be expressed from both alleles, so are not imprinted. Thus, the PWA-AS imprinted domain was assembled from many non-imprinted components relatively recently, demonstrating that the evolution of imprinting has been an ongoing process during mammalian radiation.¶ In the second paper, I examine the evolution of the X-inactivation centre, the key regulatory region responsible for X-chromosome inactivation in humans and mice, which is imprinted in mouse extraembryonic membranes. By sequencing and aligning flanking regions across the three mammal groups and non-mammal vertebrates, I discovered that the region homologous to the X-inactivation centre, though intact in birds and frogs, was disrupted independently in marsupial and monotreme mammals. I showed that the key regulatory RNA of this locus (X-inactive specific transcript or XIST) is absent, explaining why a decade-long search for marsupial XIST was unsuccessful. Thus, XIST is eutherian-specific and is therefore not a basic requirement for X-chromosome inactivation in all mammals.¶ The broader significance of the findings reported in these two papers is explored with respect to other current work regarding the evolution and construction of imprinted loci in mammals in the form of a review. This comparison enabled me to conclude that like the PWS-AS domain and the X-inactivation centre, many domains show unexpected construction from disparate genomic elements that correlate with their acquisition of imprinting.¶ The fourth and last paper examines the evolution of CCCTC-binding Factor (CTCF) and its parologue Brother Of Regulator of Imprinted Sites (BORIS) which contribute to the establishment and interpretation of genomic imprinting at the Insulin-Like Growth Factor 2/H19 locus. In this paper I show that the duplication of CTCF giving rise to BORIS occurred much earlier than previously recognised, and demonstrate that a major change in BORIS expression (restriction to the germline) occurred in concert with the evolution of genomic imprinting. The papers that form the bulk of this thesis show that the evolution of epigenetic traits such as genomic imprinting and X-chromosome inactivation is labile and has apparently responded rapidly to different selective pressures during the independent evolution of the three mammal groups. I have introduced these papers, and discussed them generally in terms of current theories of how and why these forms of monoallelic expression have evolved in mammals.
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Andersson, Sandra, and Julia Salomonsson. "Ungas perspektiv på föräldraskap och ursprung : Reflektioner från unga vuxna tillkomna genom könscellsdonation och/eller uppvuxna i regnbågsfamiljer." Thesis, Linköpings universitet, Psykologi, 2018. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-150160.

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Denna examensuppsats har ämnat undersöka ungdomars och unga vuxnas perspektiv på och upplevelser av föräldraskap och genetiskt ursprung samt aktuell föräldralagstiftning. Examensuppsatsen ämnar vidare utgöra underlag för en rapport som beaktas i en statlig utredning som handlar om att se över aktuella regler kring fastställande av rättsligt föräldraskap. Genom semistrukturerade intervjuer med tio unga vuxna i åldern 17 till 32 år har data samlats in och analyserats med tematisk analys. I resultaten fann vi att deltagarnas sätt definiera och tala om föräldraskap är i linje med tidigare forskning. Även internationell forskning kring synen på könscellsdonatorer och deras roll som föräldrar eller icke-föräldrar har kunnat appliceras på vårt intervjumaterial för att förstå donatorsrollen som infallande på ett kontinuum. Nya fynd som framkommit är att avsaknad av rättsliga band ej utgör ett oöverkomligt hinder för utövandet av socialt föräldraskap, både i avseende på att skaffa barn och sedermera uppfostra det. Deltagarna berättar dock att avsaknad av rättsligt föräldraskap har varit problematiskt vid dödsfall och separationer. Funderingar kring genetiskt ursprung och tillkomst beskrivs påbörjas i tidig ålder hos deltagarna och vara avslutat i tidig vuxen ålder, vilket är ett nytt fynd och går emot lagstiftad ålder för kännedom om donator och genetiskt ursprung. Möjlighet till kännedomen om genetiskt ursprung lyfts som barnets okränkbara rättighet. Utifrån dessa fynd drar vi slutsatsen att trots lagmässiga hinder kan ett fullständigt föräldraskap i många fall utövas av icke-juridiska föräldrar samt att avsaknad av genetiska band ej utgör en barriär för relationsskapande eller identitetsutveckling. Däremot anses lagstiftning och samhällsattityder fortfarande vara exkluderande och osynliggörande gentemot regnbågsfamiljer och könscellsdonation.
Statlig offentlig utredning (Kommittédirektiv 2017:28)
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Raghuram, Pillai Preethi. "Decisional conflict among adolescents and parents making decisions about genomic results." University of Cincinnati / OhioLINK, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1553528736920897.

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Books on the topic "Parental genome"

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La souffrance des envahis: Récit autobiographique. Montréal]: J. Leduc, 2012.

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Écouter l'autisme: Le livre d'une mère d'enfant autiste. Paris: Autrement, 2009.

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Lavigueur, Suzanne. Ces parents à bout de souffle: Un guide de survie à l'intention des parents qui ont un enfant hyperactif. Outremont: Quebecor, 1998.

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Geneviève, Tellier, Palardy Sylvain, and Hôpital Sainte-Justine, eds. L' enfant malade: Répercussions et espoirs. Montréal, Qué: Éditions de l'Hôpital Sainte-Justine, 2000.

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Ervas, Fulvio. N'aie pas peur si je t'enlace. Paris: L. Levi, 2013.

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La petite fille qui ne parlait pas. [Montréal]: Libre expression, 1989.

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Masculin/féminin. Paris: O. Jacob, 1996.

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Joseph, Dwayne S. Around the way girls 4. Deer Park, N.Y: Urban Books, 2007.

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M, Gunn D., ed. Gender, power, and promise: The subject of the Bible's first story. Nashville: Abingdon Press, 1993.

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Numan, Michael. The Parental Brain. Oxford University Press, 2020. http://dx.doi.org/10.1093/oso/9780190848675.001.0001.

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The Parental Brain: Mechanisms, Development, and Evolution takes a three-pronged approach to the parental brain. The first part of the book deals with neural mechanisms. Subcortical circuits are crucially involved in parental behavior, and, for most mammals, the physiological events of pregnancy and parturition prime these circuits so that they become responsive to infant stimuli, allowing for the onset of maternal behavior at parturition. However, since paternal behavior and alloparental behavior occur in some mammalian species, alternate mechanisms are shown to exist that regulate the access of infant stimuli to these circuits. In humans, cortical circuits interact with subcortical circuits so that parental feeling states (emotions) and cognitions can be translated into parental behavior. The section on development emphasizes the experiential basis of the intergenerational continuity of normal and abnormal maternal behavior in animals and humans: The way a mother treats her infant affects the development of the infant’s brain and subsequent maternal behavior. Genetic factors, including epigenetic processes and gene by environment (G × E) interactions, are also involved. The chapter on evolution presents evidence that the parental brain most likely provided the foundation or template for other strong prosocial bonds. In particular, cortical and subcortical parental brain circuits have probably been utilized by natural selection to promote the evolution of the hyper-cooperation and hyper-prosociality that exist in human social groups. A unique aspect of this book is its integration of animal and human research to create a complete understanding of the parental brain.
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Book chapters on the topic "Parental genome"

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Reik, W., H. Sasaki, A. Ferguson-Smith, R. Feil, L. Bowden, J. Penberth, A. Surani, I. Gurtmann, and J. Klose. "Parental imprinting and epigenetic programming of the mouse genome: long lasting consequences for development and phenotype." In Chromosomes Today, 367–76. Dordrecht: Springer Netherlands, 1993. http://dx.doi.org/10.1007/978-94-011-1510-0_28.

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Paro, Renato, Ueli Grossniklaus, Raffaella Santoro, and Anton Wutz. "Genomic Imprinting." In Introduction to Epigenetics, 91–115. Cham: Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-68670-3_5.

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AbstractA typical cell contains two sets of chromosomes: one that was inherited from the mother, the other from the father. Usually, autosomal alleles are expressed at similar levels from the maternally and paternally inherited chromosomes. This chapter is dedicated to an exception of this rule: the expression of genes that are regulated by genomic imprinting depends on the parental origin of the allele, leading to the non-equivalence of maternal and paternal genomes. Genomic imprinting is a paradigm of epigenetic gene regulation as genetically identical alleles can exist in two expression states within the same nucleus. The imprints marking the parental alleles are established in the parental germline, maintained during the development of the offspring, but reset before they are passed on to the next generation. In mammals, the primary imprint is usually a differentially methylated region at the locus but there are also examples where histone modifications mark the parental alleles. Many imprinted genes play important roles for development and are associated with human disease. Interestingly, genomic imprinting evolved independently in mammals and seed plants and similar mechanisms have been recruited to regulate imprinted expression in the two kingdoms. We will discuss evolutionary constraints that could have led to the evolution of genomic imprinting in these seemingly disparate lineages.
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Maccaferri, Marco, Martina Bruschi, and Roberto Tuberosa. "Sequence-Based Marker Assisted Selection in Wheat." In Wheat Improvement, 513–38. Cham: Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-030-90673-3_28.

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AbstractWheat improvement has traditionally been conducted by relying on artificial crossing of suitable parental lines followed by selection of the best genetic combinations. At the same time wheat genetic resources have been characterized and exploited with the aim of continuously improving target traits. Over this solid framework, innovations from emerging research disciplines have been progressively added over time: cytogenetics, quantitative genetics, chromosome engineering, mutagenesis, molecular biology and, most recently, comparative, structural, and functional genomics with all the related -omics platforms. Nowadays, the integration of these disciplines coupled with their spectacular technical advances made possible by the sequencing of the entire wheat genome, has ushered us in a new breeding paradigm on how to best leverage the functional variability of genetic stocks and germplasm collections. Molecular techniques first impacted wheat genetics and breeding in the 1980s with the development of restriction fragment length polymorphism (RFLP)-based approaches. Since then, steady progress in sequence-based, marker-assisted selection now allows for an unprecedently accurate ‘breeding by design’ of wheat, progressing further up to the pangenome-based level. This chapter provides an overview of the technologies of the ‘circular genomics era’ which allow breeders to better characterize and more effectively leverage the huge and largely untapped natural variability present in the Triticeae gene pool, particularly at the tetraploid level, and its closest diploid and polyploid ancestors and relatives.
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McKeown, Peter C., Antoine Fort, and Charles Spillane. "Genomic Imprinting: Parental Control of Gene Expression in Higher Plants." In Polyploid and Hybrid Genomics, 257–70. Oxford, UK: John Wiley & Sons, Inc., 2013. http://dx.doi.org/10.1002/9781118552872.ch16.

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Sowa, Anna S., Lisa Dussling, Jörg Hagmann, and Sebastian J. Schultheiss. "The power of next-generation sequencing and machine learning for causal gene finding and prediction of phenotypes." In Mutation breeding, genetic diversity and crop adaptation to climate change, 401–10. Wallingford: CABI, 2021. http://dx.doi.org/10.1079/9781789249095.0041.

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Abstract The wide application of next-generation sequencing (NGS) has facilitated and accelerated causal gene finding and breeding in the field of plant sciences. A wide variety of techniques and computational strategies is available that needs to be appropriately tailored to the species, genetic architecture of the trait of interest, breeding system and available resources. Utilizing these NGS methods, the typical computational steps of marker discovery, genetic mapping and identification of causal mutations can be achieved in a single step in a cost- and time-efficient manner. Rather than focusing on a few high-impact genetic variants that explain phenotypes, increased computational power allows modelling of phenotypes based on genome-wide molecular markers, known as genomic selection (GS). Solely based on this genotype information, modern GS approaches can accurately predict breeding values for a given trait (the average effects of alleles over all loci that are anticipated to be transferred from the parent to the progeny) based on a large training population of genotyped and phenotyped individuals (Crossa et al., 2017). Once trained, the model offers great reductions in breeding speed and costs. We advocate for improving conventional GS methods by applying advanced techniques based on machine learning (ML) and outline how this approach can also be used for causal gene finding. Subsequent to genetic causes of agronomically important traits, epigenetic mechanisms such as DNA methylation play a crucial role in shaping phenotypes and can become interesting targets in breeding pipelines. We highlight an ML approach shown to detect functional methylation changes sensitively from NGS data. We give an overview about commonly applied strategies and provide practical considerations in choosing and performing NGS-based gene finding and NGS-assisted breeding.
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Dubrova, Yuri E. "Genomic Instability in the Offspring of Irradiated Parents." In Radiobiology and Environmental Security, 127–39. Dordrecht: Springer Netherlands, 2011. http://dx.doi.org/10.1007/978-94-007-1939-2_12.

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Matthews, Duncan. "Access to CRISPR Genome Editing Technologies: Patents, Human Rights and the Public Interest." In Access to Medicines and Vaccines, 105–33. Cham: Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-83114-1_4.

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AbstractWhile detailed debates are underway about the scientific and ethical implications of genome editing, this chapter argues that greater attention should be paid to the patent policy issues that these technologies raise. The chapter argues that WTO Members need to consider urgently the implications of patenting genome editing inventions for human rights and the public interest, taking into account Article 27.2 of the TRIPS Agreement, which provides that Members may exclude from patentability inventions, the prevention within their territory of the commercial exploitation of which is necessary to protect ordre public or morality. Furthermore, while genome editing has great potential to transform healthcare and the wellbeing in society across a broad range of scientific fields, the granting of patent rights for these technologies will have profound implications for affordability and access, particularly for people living with chronic lifelong illnesses and for future generations not yet born who are at risk of inheriting preventable medical conditions from their parents. The chapter argues that WTO Members need to consider carefully the impact of granting of genome editing patents, balancing the need to reward inventorship while at the same time having regard to implications for affordability, access and the enjoyment of fundamental human rights.
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Rowe, Suzanne, Stephen Bishop, and D. J. de Koning. "Imprinting in Genome Analysis: Modeling Parent-Of-Origin Effects in QTL Studies." In Livestock Epigenetics, 113–29. Oxford, UK: Wiley-Blackwell, 2011. http://dx.doi.org/10.1002/9781119949930.ch7.

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de Jong, Mayke. "Hraban Maur as mediator: De honore parentum (autumn 834)." In Splendor Reginae: Passions, genre et famille, 49–57. Turnhout: Brepols Publishers, 2015. http://dx.doi.org/10.1484/m.hama-eb.5.103300.

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van Houts, Elisabeth. "Les femmes dans le royaume Plantagenêt: gendre, politique et nature." In Histoires de famille. La parenté au Moyen Age, 95–112. Turnhout: Brepols Publishers, 2006. http://dx.doi.org/10.1484/m.hifa-eb.3.603.

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Conference papers on the topic "Parental genome"

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Blauel, Emily, Zalman Vaksman, Alex Lee, Rebecca Kaufman, Laura Egolf, Andrew Olshan, John Maris, and Diskin Sharon. "Abstract 3030: Heritability of cancer predisposition gene mutations in 556 neuroblastoma patients with paired parental DNA whole genome sequences." In Proceedings: AACR Annual Meeting 2021; April 10-15, 2021 and May 17-21, 2021; Philadelphia, PA. American Association for Cancer Research, 2021. http://dx.doi.org/10.1158/1538-7445.am2021-3030.

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Ngo, K. Y., D. Lynch, J. Gitscher, N. Ciavarella, Z. Ruggeri, and T. Zimmerman. "HOMOZYGOUS AND HETEROZYGOUS COMPLETE DELETIONS OF THE VON WILLEBRAND FACTOR GENE CODING REGION IN SEVERE VON WILLEBRAND DISEASE AND CARRIERS." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643931.

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Severe von Willebrand disease (vWD) is characterized by undetectable levels of von Willebrand factor (vWF), or trace amounts, in plasma and tissue stores. We have studied the genomic DNA of ten affected individuals from five families with this disorder using two cDNA probes. One probe extended from 175 base pairs of the 5’ untranslated region to the nucleotides encoding amino acid 618 of pro-vWF; the second extended from the nucleotides encoding amino acid 2225 of pro-vWF to 100 bp into the 3’ untranslated region. Three variants of the disorder were identified. Southern blots of restriction endonuclease digests and slot blots of undigested genomic DNA showed complete homozygous deletion of the vWF gene coding region in four affected siblings, three of whom had developed allo-antibodies. Gene dosage analysis performed with slot blots and laser densitometry were consistent with complete heterozygous deletions in both parents. The second variant was characterized by a complete heterozygous deletion of the vWF gene coding region in the propositus and one asymptomatic parent, suggesting that a different type of genetic abnormality was inherited from the other parent and that the patient was doubly heterozygous for distinct genetic abnormalities affecting vWF. In a third variant, no abnormalities could be detected. These techniques should prove useful in identifying carriers of severe vWD and also defining patients at risk of developing allo-antibodies to vWF.
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Zhang, Liping, and Jian S. Dai. "Genome Reconfiguration of Metamorphic Manipulators Based on Lie Group Theory." In ASME 2008 International Design Engineering Technical Conferences and Computers and Information in Engineering Conference. ASMEDC, 2008. http://dx.doi.org/10.1115/detc2008-49906.

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This paper investigates reconfiguration which was induced by topology change as a typical character of metamorphic mechanisms in a way analogous to the concept of genome varation in biological study. Genome is the full complement of genetic information that an organism inherits from its parents, espercially the set of genes they carry. Genome variation is to study the change and variation of this complement with genetic information and genes connectivity and is analogous to mechanisms reconfiguration of metamorphic mechanisms. Metamorphic mechanisms with reconfigurable topology are usually changing their configurations and varying mobility in accordance with different sub-working phase functions. The built-in spatial biological modules are for the first time compiled and introduced in this paper based on metamorphic building blocks in the form of metamorphic cells and associated inside break-down parts as the metamorphic genes for metamorphic bio-modeling as genome. The gene sequencing labels the genetic structure composition principle of the metamorphic manipulators. The bio-inspired mechanism configuration evolution is further introduced in this paper motivated by biological concept to metamorphic characteristics as different sub-phase working mechanisms gradually change and develop into different forms in a particular situation and over a period of time, as an evolutionary process of topological change that takes place over several motion phases during which a taxonomic group of organisms showing the change of their physical characteristics. Moreover, the proposed genetic structure composition principle in metamorphic manipulators leads to the development of module evolution and genetic operations based on the displacement subgroup algebraic properties of the Lie group theory. The topology transformations can further be simulated for configuration evolution and depicted with the genetic growth and degeneration in the living nature. Genome sequential reconfiguration for metamorphic manipulators promises to be mapped from degenerating the source generator to multiple sub-phase configurations. Evolution design illustrations are given to demonstrate the concept and principles.
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Spence, Melissa, Mario Banuelos, Roummel F. Marcia, and Suzanne Sindi. "Detecting Novel Structural Variants In Genomes By Leveraging Parent-Child Relatedness." In 2018 IEEE International Conference on Bioinformatics and Biomedicine (BIBM). IEEE, 2018. http://dx.doi.org/10.1109/bibm.2018.8621488.

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Yu, Jun, Gane K. S. Wong, Siqi Liu, Jian Wang, and Huanming Yang. "Analysis of genome sequences from the maternal and paternal parents of an elite rice hybrid." In Proceedings of the Fifth International Rice Genetics Symposium. World Scientific Publishing Company, 2007. http://dx.doi.org/10.1142/9789812708816_0007.

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Chebanova, Yu V., O. M. Borisenko, and Ya N. Demurin. "Use of gene recombination to develop hybrids with a mid-oleic type of oil." In CURRENT STATE, PROBLEMS AND PROSPECTS OF THE DEVELOPMENT OF AGRARIAN SCIENCE. Federal State Budget Scientific Institution “Research Institute of Agriculture of Crimea”, 2020. http://dx.doi.org/10.33952/2542-0720-2020-5-9-10-80.

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An analysis of the fatty acid profile of oilseed of 28 sunflower hybrids obtained by crossing lines from different phenotypic classes according to the content of oleic acid was made. The possibility of producing mid-oleic oil in commodity sunflower seeds by the segregation method by recombining genes based on the selection of pairs of parental lines has been experimentally proved.
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Granell, Raquel, John Henderson, and Jonathan Sterne. "Genome-wide association study of wheezing phenotypes in the Avon longitudinal study of parents and children." In ERS International Congress 2017 abstracts. European Respiratory Society, 2017. http://dx.doi.org/10.1183/1393003.congress-2017.pa1816.

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Chandra Sekhar, V., Allam Appa Rao, and P. Srinivasa Rao. "Notice of Retraction: Differential Gene Expression Analysis for Diabetes with and without parental history." In 2010 3rd IEEE International Conference on Computer Science and Information Technology (ICCSIT 2010). IEEE, 2010. http://dx.doi.org/10.1109/iccsit.2010.5563825.

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Spence, Melissa, Mario Banuelos, Roummel F. Marcia, and Suzanne Sindi. "Genomic Signal Processing for Variant Detection in Diploid Parent-Child Trios." In 2020 28th European Signal Processing Conference (EUSIPCO). IEEE, 2021. http://dx.doi.org/10.23919/eusipco47968.2020.9287626.

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Gregoriou, Marianna, Eliada Pampoulou, and George Milis. "Promoting Social Equality in Inclusive Education: Mapping the Experience of Parents of Children who Rely on Augmentative and Alternative Communication." In 79th International Scientific Conference of University of Latvia. University of Latvia, 2021. http://dx.doi.org/10.22364/htqe.2021.34.

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Inclusive education aims for equal opportunities to be provided to all children regardless of their socioeconomic background, genre, or disability. There are various technological tools that can support the inclusive education of students with complex communication needs. Despite the fact that the parents’ roles in supporting pupils with disabilities is vital, to date, there has been a lack of research investigating the roles of Cypriot parents of these children. The research aim was to explore the experiences of parents on the island who support students with complex communication needs, regarding how they perceive their roles as parents. In-depth interviews were conducted with six parents of children aged five to twelve years. Data were analysed based on thematic analysis. The findings show that parents of children with complex communication needs in Cyprus have a number of roles when it comes to supporting their children in communicating with others. They attend training sessions to acquire the necessary skills to communicate effectively with their children. They also act as communicating partners with friends, relatives and others. In addition, they act as advocates of their children both in the school, as well as in the wider community. It is vital that a number of online platforms are made openly available in order to increase knowledge and skills on issues related to AAC and inclusion. Of note is the MYHUB Inclusion Hub Platform (www.inclusion-hub.eu) which offers a one-stop-shop for inclusion practices, tools, resources and methods addressed to the pedagogical staff in formal and non-formal educational settings.
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Reports on the topic "Parental genome"

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Soller, Moshe (Morris), Hans Cheng, and Lyman Crittenden. Mapping the Chicken Genome, Including Loci Affecting Traits of Economic Importance. United States Department of Agriculture, September 1994. http://dx.doi.org/10.32747/1994.7568779.bard.

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A total of 195 microsatellites were added to the chicken genome map. Mapping of fifty known genes revealed a high degree of conserved linkage order between human and chicken genomes. A new, statistically powerful mapping design, the full-sib intercross line (produced by mating two parents, and intercrossing their progeny over a number of generations), was developed for use in species with high reproductive capacity. The Jerusalem Resource Population (JRP), now at the F12 generation, was established to implement this design i chickens. The biometrical picutre in the JRP is similar to that generally found in chicken populations; inbreeding effects were not observed. The F2 and F3 generations of the JRP were genotyped with respect to twelve production traits, using a battery of 23 microsatellites markers. The number of significant effects was twice that expected on chance alone, validating the high statistical power of the JRP with respect to QTL differentiating the parental lines. Selective DNA pooling, based on estimation of marker allele frequencies in pooled DNA samples, has been proposed to reduce high genotyping costs of QTL mapping. A method to correct for overlapping shadow bands of dinucleotide microsatellite markers in pooled DNA samples was developed and validated. In a retrospective study using this procedure, previously mapped loci affecting Marek's disease were successfully identified.
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Gur, Amit, Edward Buckler, Joseph Burger, Yaakov Tadmor, and Iftach Klapp. Characterization of genetic variation and yield heterosis in Cucumis melo. United States Department of Agriculture, January 2016. http://dx.doi.org/10.32747/2016.7600047.bard.

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Project objectives: 1) Characterization of variation for yield heterosis in melon using Half-Diallele (HDA) design. 2) Development and implementation of image-based yield phenotyping in melon. 3) Characterization of genetic, epigenetic and transcriptional variation across 25 founder lines and selected hybrids. The epigentic part of this objective was modified during the course of the project: instead of characterization of chromatin structure in a single melon line through genome-wide mapping of nucleosomes using MNase-seq approach, we took advantage of rapid advancements in single-molecule sequencing and shifted the focus to Nanoporelong-read sequencing of all 25 founder lines. This analysis provides invaluable information on genome-wide structural variation across our diversity 4) Integrated analyses and development of prediction models Agricultural heterosis relates to hybrids that outperform their inbred parents for yield. First generation (F1) hybrids are produced in many crop species and it is estimated that heterosis increases yield by 15-30% globally. Melon (Cucumismelo) is an economically important species of The Cucurbitaceae family and is among the most important fleshy fruits for fresh consumption Worldwide. The major goal of this project was to explore the patterns and magnitude of yield heterosis in melon and link it to whole genome sequence variation. A core subset of 25 diverse lines was selected from the Newe-Yaar melon diversity panel for whole-genome re-sequencing (WGS) and test-crosses, to produce structured half-diallele design of 300 F1 hybrids (MelHDA25). Yield variation was measured in replicated yield trials at the whole-plant and at the rootstock levels (through a common-scion grafted experiments), across the F1s and parental lines. As part of this project we also developed an algorithmic pipeline for detection and yield estimation of melons from aerial-images, towards future implementation of such high throughput, cost-effective method for remote yield evaluation in open-field melons. We found extensive, highly heritable root-derived yield variation across the diallele population that was characterized by prominent best-parent heterosis (BPH), where hybrids rootstocks outperformed their parents by 38% and 56 % under optimal irrigation and drought- stress, respectively. Through integration of the genotypic data (~4,000,000 SNPs) and yield analyses we show that root-derived hybrids yield is independent of parental genetic distance. However, we mapped novel root-derived yield QTLs through genome-wide association (GWA) analysis and a multi-QTLs model explained more than 45% of the hybrids yield variation, providing a potential route for marker-assisted hybrid rootstock breeding. Four selected hybrid rootstocks are further studied under multiple scion varieties and their validated positive effect on yield performance is now leading to ongoing evaluation of their commercial potential. On the genomic level, this project resulted in 3 layers of data: 1) whole-genome short-read Illumina sequencing (30X) of the 25 founder lines provided us with 25 genome alignments and high-density melon HapMap that is already shown to be an effective resource for QTL annotation and candidate gene analysis in melon. 2) fast advancements in long-read single-molecule sequencing allowed us to shift focus towards this technology and generate ~50X Nanoporesequencing of the 25 founders which in combination with the short-read data now enable de novo assembly of the 25 genomes that will soon lead to construction of the first melon pan-genome. 3) Transcriptomic (3' RNA-Seq) analysis of several selected hybrids and their parents provide preliminary information on differentially expressed genes that can be further used to explain the root-derived yield variation. Taken together, this project expanded our view on yield heterosis in melon with novel specific insights on root-derived yield heterosis. To our knowledge, thus far this is the largest systematic genetic analysis of rootstock effects on yield heterosis in cucurbits or any other crop plant, and our results are now translated into potential breeding applications. The genomic resources that were developed as part of this project are putting melon in the forefront of genomic research and will continue to be useful tool for the cucurbits community in years to come.
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3

Weller, Joel I., Ignacy Misztal, and Micha Ron. Optimization of methodology for genomic selection of moderate and large dairy cattle populations. United States Department of Agriculture, March 2015. http://dx.doi.org/10.32747/2015.7594404.bard.

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The main objectives of this research was to detect the specific polymorphisms responsible for observed quantitative trait loci and develop optimal strategies for genomic evaluations and selection for moderate (Israel) and large (US) dairy cattle populations. A joint evaluation using all phenotypic, pedigree, and genomic data is the optimal strategy. The specific objectives were: 1) to apply strategies for determination of the causative polymorphisms based on the “a posteriori granddaughter design” (APGD), 2) to develop methods to derive unbiased estimates of gene effects derived from SNP chips analyses, 3) to derive optimal single-stage methods to estimate breeding values of animals based on marker, phenotypic and pedigree data, 4) to extend these methods to multi-trait genetic evaluations and 5) to evaluate the results of long-term genomic selection, as compared to traditional selection. Nearly all of these objectives were met. The major achievements were: The APGD and the modified granddaughter designs were applied to the US Holstein population, and regions harboring segregating quantitative trait loci (QTL) were identified for all economic traits of interest. The APGD was able to find segregating QTL for all the economic traits analyzed, and confidence intervals for QTL location ranged from ~5 to 35 million base pairs. Genomic estimated breeding values (GEBV) for milk production traits in the Israeli Holstein population were computed by the single-step method and compared to results for the two-step method. The single-step method was extended to derive GEBV for multi-parity evaluation. Long-term analysis of genomic selection demonstrated that inclusion of pedigree data from previous generations may result in less accurate GEBV. Major conclusions are: Predictions using single-step genomic best linear unbiased prediction (GBLUP) were the least biased, and that method appears to be the best tool for genomic evaluation of a small population, as it automatically accounts for parental index and allows for inclusion of female genomic information without additional steps. None of the methods applied to the Israeli Holstein population were able to derive GEBV for young bulls that were significantly better than parent averages. Thus we confirm previous studies that the main limiting factor for the accuracy of GEBV is the number of bulls with genotypes and progeny tests. Although 36 of the grandsires included in the APGD were genotyped for the BovineHDBeadChip, which includes 777,000 SNPs, we were not able to determine the causative polymorphism for any of the detected QTL. The number of valid unique markers on the BovineHDBeadChip is not sufficient for a reasonable probability to find the causative polymorphisms. Complete resequencing of the genome of approximately 50 bulls will be required, but this could not be accomplished within the framework of the current project due to funding constraints. Inclusion of pedigree data from older generations in the derivation of GEBV may result is less accurate evaluations.
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4

Breiman, Adina, Jan Dvorak, Abraham Korol, and Eduard Akhunov. Population Genomics and Association Mapping of Disease Resistance Genes in Israeli Populations of Wild Relatives of Wheat, Triticum dicoccoides and Aegilops speltoides. United States Department of Agriculture, December 2011. http://dx.doi.org/10.32747/2011.7697121.bard.

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Wheat is the most widely grown crop on earth, together with rice it is second to maize in total global tonnage. One of the emerging threats to wheat is stripe (yellow) rust, especially in North Africa, West and Central Asia and North America. The most efficient way to control plant diseases is to introduce disease resistant genes. However, the pathogens can overcome rapidly the effectiveness of these genes when they are wildly used. Therefore, there is a constant need to find new resistance genes to replace the non-effective genes. The resistance gene pool in the cultivated wheat is depleted and there is a need to find new genes in the wild relative of wheat. Wild emmer (Triticum dicoccoides) the progenitor of the cultivated wheat can serve as valuable gene pool for breeding for disease resistance. Transferring of novel genes into elite cultivars is highly facilitated by the availability of information of their chromosomal location. Therefore, our goals in this study was to find stripe rust resistant and susceptible genotypes in Israeli T. dicoccoides population, genotype them using state of the art genotyping methods and to find association between genetic markers and stripe rust resistance. We have screened 129 accessions from our collection of wild emmer wheat for resistance to three isolates of stripe rust. About 30% of the accessions were resistant to one or more isolates, 50% susceptible, and the rest displayed intermediate response. The accessions were genotyped with Illumina'sInfinium assay which consists of 9K single nucleotide polymorphism (SNP) markers. About 13% (1179) of the SNPs were polymorphic in the wild emmer population. Cluster analysis based on SNP diversity has shown that there are two main groups in the wild population. A big cluster probably belongs to the Horanum ssp. and a small cluster of the Judaicum ssp. In order to avoid population structure bias, the Judaicum spp. was removed from the association analysis. In the remaining group of genotypes, linkage disequilibrium (LD) measured along the chromosomes decayed rapidly within one centimorgan. This is the first time when such analysis is conducted on a genome wide level in wild emmer. Such a rapid decay in LD level, quite unexpected for a selfer, was not observed in cultivated wheat collection. It indicates that wild emmer populations are highly suitable for association studies yielding a better resolution than association studies in cultivated wheat or genetic mapping in bi-parental populations. Significant association was found between an SNP marker located in the distal region of chromosome arm 1BL and resistance to one of the isolates. This region is not known in the literature to bear a stripe rust resistance gene. Therefore, there may be a new stripe rust resistance gene in this locus. With the current fast increase of wheat genome sequence data, genome wide association analysis becomes a feasible task and efficient strategy for searching novel genes in wild emmer wheat. In this study, we have shown that the wild emmer gene pool is a valuable source for new stripe rust resistance genes that can protect the cultivated wheat.
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Moore, Gloria A., Gozal Ben-Hayyim, Charles L. Guy, and Doron Holland. Mapping Quantitative Trait Loci in the Woody Perennial Plant Genus Citrus. United States Department of Agriculture, May 1995. http://dx.doi.org/10.32747/1995.7570565.bard.

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As is true for all crops, production of Citrus fruit is limited by traits whose characteristics are the products of many genes (i.e. cold hardiness). In order to modify these traits by marker aided selection or molecular genetic techniques, it is first necessary to map the relevant genes. Mapping of quantitative trait loci (QTLs) in perennial plants has been extremely difficult, requiring large numbers of mature plants. Production of suitable mapping populations has been inhibited by aspects of reproductive biology (e.g. incompatibility, apomixis) and delayed by juvenility. New approaches promise to overcome some of these obstacles. The overall objective of this project was to determine whether QTLs for environmental stress tolerance could be effectively mapped in the perennial crop Citrus, using an extensive linkage map consisting of various types of molecular markers. Specific objectives were to: 1) Produce a highly saturated genetic linkage map of Citrus by continuing to place molecular markers of several types on the map. 2) Exploiting recently developed technology and already characterized parental types, determine whether QTLs governing cold acclimation can be mapped using very young seedling populations. 3) Determine whether the same strategy can be transferred to a different situation by mapping QTLs influencing Na+ and C1- exclusion (likely components of salinity tolerance) in the already characterized cross and in new alternative crosses. 4) Construct a YAC library of the citrus genome for future mapping and cloning.
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6

Levin, Ilan, John W. Scott, Moshe Lapidot, and Moshe Reuveni. Fine mapping, functional analysis and pyramiding of genes controlling begomovirus resistance in tomato. United States Department of Agriculture, November 2014. http://dx.doi.org/10.32747/2014.7594406.bard.

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Abstract. Tomato yellow leaf curl virus (TYLCV), a monopartitebegomovirus, is one of the most devastating viruses of cultivated tomatoes and poses increasing threat to tomato production worldwide. Because all accessions of the cultivated tomato are susceptible to these viruses, wild tomato species have become a valuable resource of resistance genes. QTL controlling resistance to TYLCV and other begomoviruses (Ty loci) were introgressed from several wild tomato species and mapped to the tomato genome. Additionally, a non-isogenic F₁diallel study demonstrated that several of these resistance sources may interact with each other, and in some cases generate hybrid plants displaying lower symptoms and higher fruit yield compared to their parental lines, while their respective resistance genes are not necessarily allelic. This suggests that pyramiding genes originating from different resistance sources can be effective in obtaining lines and cultivars which are highly resistant to begomoviruses. Molecular tools needed to test this hypothesis have been developed by our labs and can thus significantly improve our understanding of the mechanisms of begomovirus resistance and how to efficiently exploit them to develop wider and more durable resistance. Five non-allelic Ty loci with relatively major effects have been mapped to the tomato genome using molecular DNA markers, thereby establishing tools for efficient marker assisted selection, pyramiding of multiple genes, and map based gene cloning: Ty-1, Ty-2, Ty-3, Ty-4, and ty-5. This research focused on Ty-3 and Ty-4 due to their broad range of resistance to different begomoviruses, including ToMoV, and on ty-5 due to its exceptionally high level of resistance to TYLCV and other begomoviruses. Our aims were: (1) clone Ty-3, and fine map Ty-4 and Ty-5 genes, (2)introgress each gene into two backgroundsand develop semi isogenic lines harboring all possible combinations of the three genes while minimizing linkage-drag, (3) test the resulting lines, and F₁ hybrids made with them, for symptom severity and yield components, and (4) identify and functionally characterize candidate genes that map to chromosomal segments which harbor the resistance loci. During the course of this research we have: (1) found that the allelic Ty-1 and Ty-3 represent two alternative alleles of the gene coding DFDGD-RDRP; (2) found that ty-5is highly likely encoded by the messenger RNA surveillance factor PELOTA (validation is at progress with positive results); (3) continued the map-based cloning of Ty-4; (4) generated all possible gene combinations among Ty-1, Ty-3 and ty-5, including their F₁ counterparts, and tested them for TYLCV and ToMoV resistance; (5) found that the symptomless line TY172, carrying ty-5, also carries a novel allele of Ty-1 (termed Ty-1ⱽ). The main scientific and agricultural implications of this research are as follows: (1) We have developed recombination free DNA markers that will substantially facilitate the introgression of Ty-1, Ty-3 and ty-5 as well as their combinations; (2) We have identified the genes controlling TYLCV resistance at the Ty-1/Ty-3 and ty-5 loci, thus enabling an in-depth analyses of the mechanisms that facilitate begomovirus resistance; (3) Pyramiding of Ty resistance loci is highly effective in providing significantly higher TYLCV resistance.
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Abbott, Albert G., Doron Holland, Douglas Bielenberg, and Gregory Reighard. Structural and Functional Genomic Approaches for Marking and Identifying Genes that Control Chilling Requirement in Apricot and Peach Trees. United States Department of Agriculture, September 2009. http://dx.doi.org/10.32747/2009.7591742.bard.

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Structural and functional genomic approaches for marking and identifying genes that control chilling requirement in apricot and peach trees. Specific aims: 1) Identify and characterize the genetic nature of chilling requirement for flowering and dormancy break of vegetative shoots in Prunusgermplasm through the utilization of existing apricot (NeweYa'ar Research Center, ARO) and peach (Clemson University) genetic mapping populations; 2) Use molecular genetic mapping techniques to identify markers flanking genomic regions controlling chilling; 3) Comparatively map the regions controlling chilling requirement in apricot and peach and locate important genomic regions influencing chilling requirement on the Prunus functional genomic database as an initial step for identification of candidate genes; 4) Develop from the functional genomics database a set of markers facilitating the development of cultivars with optimized chilling requirements for improved and sustained fruit production in warm-winter environments. Dormant apricot (prunus armeniaca L.) and peach [Prunus persica (L.) Batsch] trees require sustained exposure to low, near freezing, temperatures before vigorous floral and vegetative bud break is possible after the resumption of warm temperatures in the spring. The duration of chilling required (the chilling requirement, CR) is determined by the climatic adaptation of the particular cultivar, thus limiting its geographic distribution. This limitation is particularly evident when attempting to introduce superior cultivars to regions with very warm winter temperatures, such as Israel and the coastal southern United States. The physiological mechanism of CR is not understood and although breeding programs deliberately manipulate CR in apricot and peach crosses, robust closely associated markers to the trait are currently not available. We used segregating populations of apricot (100 Fl individuals, NeweYa'ar Research Center, ARO) and peach (378 F2 individuals, Clemson University) to discover several discreet genomic loci that regulate CR and blooming date. We used the extensive genomic/genetic resources available for Prunus to successfully combine our apricot and peach genetic data and identify five QTL with strong effects that are conserved between species as well as several QTL that are unique to each species. We have identified markers in the key major QTL regions for testing in breeding programs which we are carrying out currently; we have identified an initial set of candidate genes using the peach physical/transcriptome map and whole peach genome sequences and we are testing these currently to identify key target genes for manipulation in breeding programs. Our collaborative work to date has demonstrated the following: 1) CR in peach and apricot is predominantly controlled by a limited number ofQTL loci, seven detected in a peach F2 derived map comprising 65% of the character and 12 in an apricot Fl map comprising 71.6% and 55.6% of the trait in the Perfection and A. 1740 parental maps, respectively and that peach and apricot appear in our initial maps to share five genomic intervals containing potentially common QTL. 2) Application of common anchor markers of the Prunus/peach, physical/genetic map resources has allowed us not only to identify the shared intervals but also to have immediately available some putative candidate gene information from these intervals, the EVG region on LG1 in peach the TALY 1 region in apricot on LG2 in peach; and several others involved in vernalization pathways (LGI and LG7). 3) Mapped BACcontigs are easily defined from the complete physical map resources in peach through the common SSR markers that anchor our CR maps in the two species, 4) Sequences of BACs in these regions can be easily mined for additional polymorphic markers to use in MAS applications.
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8

Bennett, Alan B., Arthur A. Schaffer, Ilan Levin, Marina Petreikov, and Adi Doron-Faigenboim. Manipulating fruit chloroplasts as a strategy to improve fruit quality. United States Department of Agriculture, January 2013. http://dx.doi.org/10.32747/2013.7598148.bard.

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The Original Objectives were modified and two were eliminated to reflect the experimental results: Objective 1 - Identify additional genetic variability in SlGLK2 and IPin wild, traditional and heirloom tomato varieties Objective 2 - Determine carbon balance and horticultural characteristics of isogenic lines expressing functional and non-functional alleles of GLKsand IP Background: The goal of the research was to understand the unique aspects of chloroplasts and photosynthesis in green fruit and the consequences of increasing the chloroplast capacity of green fruit for ripe fruit sugars, yield, flavor and nutrient qualities. By focusing on the regulation of chloroplast formation and development solely in fruit, our integrated knowledge of photosynthetic structures/organs could be broadened and the results of the work could impact the design of manipulations to optimize quality outputs for the agricultural fruit with enhanced sugars, nutrients and flavors. The project was based on the hypothesis that photosynthetic and non-photosynthetic plastid metabolism in green tomato fruit is controlled at a basal level by light for minimal energy requirements but fruit-specific genes regulate further development of robust chloroplasts in this organ. Our BARD project goals were to characterize and quantitate the photosynthesis and chloroplast derived products impacted by expression of a tomato Golden 2- like 2 transcription factor (US activities) in a diverse set of 31 heirloom tomato lines and examine the role of another potential regulator, the product of the Intense Pigment gene (IP activities). Using tomato Golden 2-like 2 and Intense Pigment, which was an undefined locus that leads to enhanced chloroplast development in green fruit, we sought to determine the benefits and costs of extensive chloroplast development in fruit prior to ripening. Major conclusions, solutions, achievements: Single nucleotide polymorphisms in the promoter, coding and intronicSlGLK2 sequences of 20 heirloom tomato lines were identified and three SlGLK2 promoter lineages were identified; two lineages also had striped fruit variants. Lines with striped fruit but no shoulders were not identified. Green fruit chlorophyll and ripe fruit soluble sugar levels were measured in 31 heirloom varieties and fruit size correlates with ripe fruit sugars but dark shoulders does not. A combination of fine mapping, recombinant generation, RNAseq expression and SNP calling all indicated that the proposed localization of a single locus IP on chr 10 was incorrect. Rather, the IP line harbored 11 separate introgressions from the S. chmielewskiparent, scattered throughout the genome. These introgressions harbored ~3% of the wild species genome and no recombinant consistently recovered the IP parental phenotype. The 11 introgressions were dissected into small combinations in segregating recombinant populations. Based on these analyses two QTL for Brix content were identified, accounting for the effect of increased Brix in the IP line. Scientific and agricultural implications: SlGLK2 sequence variation in heirloom tomato varieties has been identified and can be used to breed for differences in SlGLK2 expression and possibly in the green striped fruit phenotype. Two QTL for Brix content have been identified in the S. chmielewskiparental line and these can be used for increasing soluble solids contents in breeding programs.
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9

Gafny, Ron, A. L. N. Rao, and Edna Tanne. Etiology of the Rugose Wood Disease of Grapevine and Molecular Study of the Associated Trichoviruses. United States Department of Agriculture, September 2000. http://dx.doi.org/10.32747/2000.7575269.bard.

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Rugose wood is a complex disease of grapevines, characterized by modification of the woody cylinder of affected vines. The control of rugose wood is based on the production of healthy propagation material. Detection of rugose wood in grapevines is difficult and expensive: budwood from tested plants is grafted onto sensitive Vitis indicators and the appearance of symptoms is monitored for 3 years. The etiology of rugose wood is complex and has not yet been elucidated. Several elongated clostero-like viruses are consistently found in affected vines; one of them, grapevine virus A (GVA), is closely associated with Kober stem grooving, a component of the rugose wood complex. GVA has a single-stranded RNA genome of 7349 nucleotides, excluding a polyA tail at the 3' terminus. The GVA genome includes five open reading frames (ORFs 1-5). ORF 4, which encodes for the coat protein of GVA, is the only ORF for which the function was determined experimentally. The original objectives of this research were: 1- To produce antisera to the structural and non-structural proteins of GVA and GVB and to use these antibodies to establish an effective detection method. 2- Develop full length infectious cDNA clones of GVA and GVB. 3- Study the roll of GVA and GVB in the etiology of the grapevine rugose wood disease. 4- Determine the function of Trichovirus (now called Vitivirus) encoded genes in the virus life cycle. Each of the ORFs 2, 3, 4 and 5 genes of GVA were cloned and expressed in E. coli and used to produce antisera. Both the CP (ORF 4) and the putative MP (ORF 3) were detected with their corresponding antisera in-GVA infected N. benthamiana and grapevine. The MP was first detected at an early stage of the infection, 6-12 h after inoculation, and the CP 2-3 days after inoculation. The MP could be detected in GVA-infected grapevines that tested negative for CP, both with CP antiserum and with a commercially available ELISA kit. Antisera to ORF 2 and 5 encoded proteins could react with the recombinant proteins but failed to detect both proteins in GVA infected plants. A full-length cDNA clone of grapevine virus A (GVA) was constructed downstream from the bacteriophage T7 RNA polymerase promoter. Capped in vitro transcribed RNA was infectious in N. benthamiana and N. clevelandii plants. Symptoms induced by the RNA transcripts or by the parental virus were indistinguishable. The infectivity of the in vitro-transcribed RNA was confirmed by serological detection of the virus coat and movement proteins and by observation of virions by electron microscopy. The full-length clone was modified to include a gus reporter gene and gus activity was detected in inoculated and systemic leaves of infected plants. Studies of GVA mutants suggests that the coat protein (ORF 4) is essential for cell to cell movement, the putative movement protein (ORF 3) indeed functions as a movement protein and that ORF 2 is not required for virus replication, cell to cell or systemic movement. Attempts to infect grapevines by in-vitro transcripts, by inoculation of cDNA construct in which the virus is derived by the CaMV 35S promoter or by approach grafting with infected N. benthamiana, have so far failed. Studies of the subcellular distribution of GFP fusion with each of ORF 2, 3 and 4 encoded protein showed that the CP fusion protein accumulated as a soluble cytoplasmatic protein. The ORF 2 fusion protein accumulated in cytoplasmatic aggregates. The MP-GFP fusion protein accumulated in a large number of small aggregates in the cytoplasm and could not move from cell to cell. However, in conditions that allowed movement of the fusion protein from cell to cell (expression by a PVX vector or in young immature leaves) the protein did not form cytoplasmatic aggregates but accumulated in the plasmodesmata.
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Ohad, Nir, and Robert Fischer. Control of Fertilization-Independent Development by the FIE1 Gene. United States Department of Agriculture, August 2000. http://dx.doi.org/10.32747/2000.7575290.bard.

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A fundamental problem in biology is to understand how fertilization initiates reproductive development. During plant reproduction, one sperm cell fuses with the egg to form an embryo, whereas a second sperm cell fuses with the adjacent central cell nucleus to form the endosperm tissue that supports embryo and/or seedling development. To understand the mechanisms that initiate reproduction, we have isolated mutants of Arabidopsis that allow for replication of the central cell and subsequent endosperm development without fertilization. In this project we have cloned the MEA gene and showed that it encode a SET- domain polycomb protein. Such proteins are known to form chromatin-protein complexes that repress homeotic gene transcription and influence cell proliferation from Drosophylla to mammals. We propose a model whereby MEA and an additional polycomb protein we have cloned, FIE , function to suppress a critical aspect of early plant reproduction and endosperm development, until fertilization occurs. Using a molecular approach we were able to determine that FIE and MEA interact physically, suggesting that these proteins have been conserved also during the evolution of flowering plants. The analysis of MEA expression pattern revealed that it is an imprinted gene that displays parent-of- origin-dependent monoallelic expression specifically in the endosperm tissue. Silencing of the paternal MEA allele in the endosperm and the phenotype of mutant mea seeds support the parental conflict theory for the evolution of imprinting in plants and mammals. These results contribute new information on the initiation of endosperm development and provide a unique entry point to study asexual reproduction and apomixis which is expected to improve crop production.
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