Dissertations / Theses on the topic 'X and Y chromosomes'
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Morey, Céline. "Caractérisation du rôle de la région en aval du gène Xist lors de l'inactivation du chromosome X murin par mutagenèse ciblée dans les cellules ES." Paris 5, 2004. http://www.theses.fr/2004PA05N040.
Full textIn mammals, dosage compensation of X-linked genes is ensured by X-chromosome inactivation wherby one X chromosome in each female embryonic cell (ES) is chosen at random to become silenced. X-inactivation depends on the counting of X chromosomes and on the choice of the inactive X, It is mediated by the expression of the Xist non-coding RNA wich coats the inactive X and by the Tsix antisense transcipt, a Tsix antisense transcript, a Xist regulator. A 65 kb deletion extending 3' to Xist and including both Tsix and the DXPas34 minisatellite, disrupts choice and counting. Using a cre/loxP site-specific re-insertion strategy in XX deleted ES cells we showed that targeting back, at the 65 kb mutated locus, the Tsix antisense transcription fails to retore random X-inactivation. In contrast, normal counting can be restored in XO deleted ES cells. .
Kayserili, Melek A., Dave T. Gerrard, Pavel Tomancak, and Alex T. Kalinka. "An Excess of Gene Expression Divergence on the X Chromosome in Drosophila Embryos: Implications for the Faster-X Hypothesis." Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2015. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-180730.
Full textCoultas, Susan L. (Susan Lynette). "A comparison of straight-stained, Q-stained, and reverse flourescent-stained cell lines for detection of fragile sites on the human X chromosome." Thesis, North Texas State University, 1985. https://digital.library.unt.edu/ark:/67531/metadc798127/.
Full textTurner, Caroline. "Cytogenetic and molecular studies of ring (X) chromosomes." Thesis, University of Southampton, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.297376.
Full textAvery, Mina. "Educational development in individuals with extra X chromosomes." abstract and full text PDF (free order & download UNR users only), 2008. http://0-gateway.proquest.com.innopac.library.unr.edu/openurl?url_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:dissertation&res_dat=xri:pqdiss&rft_dat=xri:pqdiss:1460746.
Full textHussein, Sultana Muhammad School of Pathology UNSW. "Fragile X mental retardation and fragile X chromosomes in the Indonesian population." Awarded by:University of New South Wales. School of Pathology, 1998. http://handle.unsw.edu.au/1959.4/33198.
Full textHolm, Sofia. "Molecular genetic studies of psoriasis susceptibility in 6p21.3 /." Stockholm, 2005. http://diss.kib.ki.se/2005/91-7140-225-X.
Full textKhalil, Ahmad M. "Histone modifications and chromatin dynamics of the mammalian inactive sex chromosomes title." [Gainesville, Fla.] : University of Florida, 2004. http://purl.fcla.edu/fcla/etd/UFE0008329.
Full textTypescript. Title from title page of source document. Document formatted into pages; contains 102 pages. Includes Vita. Includes bibliographical references.
Kayserili, Melek A., Dave T. Gerrard, Pavel Tomancak, and Alex T. Kalinka. "An Excess of Gene Expression Divergence on the X Chromosome in Drosophila Embryos: Implications for the Faster-X Hypothesis." PLOS, 2012. https://tud.qucosa.de/id/qucosa%3A28925.
Full textFraser, Neil J. "Molecular studies of the human x and y chromosomes." Thesis, University of Oxford, 1987. http://ora.ox.ac.uk/objects/uuid:e22e64bb-64e5-4474-86e2-1c3d5eb6155a.
Full textKoenig, Michel. "Etude de marqueurs moléculaires des chromosomes X et Y humains." Grenoble 2 : ANRT, 1986. http://catalogue.bnf.fr/ark:/12148/cb375987796.
Full textRouyer, François. "Les echanges genetiques entre les chromosomes x et y humains." Paris 6, 1990. http://www.theses.fr/1990PA066677.
Full textKoenig, Michel. "Etude de marqueurs moleculaires des chromosomes x et y humains." Université Louis Pasteur (Strasbourg) (1971-2008), 1986. http://www.theses.fr/1986STR13099.
Full textRaynaud, Martine. "Etude du profil d'inactivation des chromosomes X chez les conductrices de pathologies liées au sexe avec déficience mentale." Tours, 2002. http://www.theses.fr/2002TOUR3306.
Full textHorn, Jacqueline Morag. "Investigation of the X inactivation centre region in mice." Thesis, Institute of Cancer Research (University Of London), 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.326155.
Full textPhilippe, Christophe. "Cartographie physique du chromosome X humain : 1) contribution à la cartographie physique de la région q13-q22 du chromosome X humain : 2) analyse de deux cas de pathologies récessives liées à l'X chez des femmes porteuses de translocation (X ; Autosome) équilibrées." Vandoeuvre-les-Nancy, INPL, 1994. http://docnum.univ-lorraine.fr/public/INPL_T_1994_PHILIPPE_C.pdf.
Full textNora, Elphège-Pierre. "Architecture chromosomique du locus Xic : implications pour la régulation de l'inactivation du chromosome X." Thesis, Paris 11, 2011. http://www.theses.fr/2011PA112130/document.
Full textEarly development of female mammals is accompanied by transcriptional inactivation of one of their two X chromosomes. This event is initiated following mono-allelic expression of the Xist non-coding RNA – what is achieved by the interplay of numerous cis-regulatory elements present within the X inactivation center (Xic), such as its repressive antisense Tsix. Our work aimed at throwing light on the structural landscape that underlies such long-range regulation. Characterization of the three-dimensional architecture of the Xic, by the means of Chromosome Conformation Capture (3C)-based techniques and in situ fluorescence hybridization (FISH), revealed that the respective promoters of Xist and Tsix contact many distal genomic elements within the Xic, and that at least one of such interacting region exerts long-range cis-transcriptional control. Noticeably, Xist and Tsix promoters associate with different sets of elements in their respective 5’ direction that are spread out over several hundreds of kilobases These experiments also revealed unforeseen properties of chromatin architecture. Indeed, the Xic appears to be partitioned in several sub-regions, each spanning between 200kb and 1Mb, inside which chromosomal interactions are preferentially established. The existence of these interaction domains integrates with other structural features of the genome, such as underlying chromatin composition and association with the nuclear lamina, but does not seem to directly depend on them. By analyzing chromosome conformation of the Xic during cell differentiation we document the robustness of this organizational principle, with the noticeable exception of the inactive X chromosome that assumes a folding pattern that is more random than its active homolog. Finally we also bring evidence that variability in the folding pattern of the two X chromosomes in the same cell brings each Tsix allele in association with different sets of chromosomal partners at a given moment, suggesting that the instantaneous structural environment of each allele at the onset of mono-allelic Xist up-regulation is different.By combining approaches at the scale of cell populations on the one hand, and at the single chromatin fiber level on the other, this study provides a first vision of the structural landscape in which Xist regulation takes place, and brings new insights concerning fundamental properties of chromosome organization in mammals
Augui, Sandrine. "Interactions chromosomiques et inactivation du chromosome X : éléments génétiques et mécanismes impliqués dans la reconnaissance du nombre de chromosomes X et dans la coordination des centres d'inactivation." Paris 11, 2009. http://www.theses.fr/2009PA112373.
Full textIn mammals, dosage compensation is achieved by the inactivation of one of the two X-chromosome during early development in females. X inactivation process is controlled by a complex locus, the X-inactivation centre (Xic), which includes the Xist gene and its antisense transcription unit Tsix/Xite. The Xic senses X chromosome number and initiates inactivation by triggering mono-allelic up-regulation of Xist RNA, and reciprocally, down-regulation of Tsix from one of the two X chromosomes in females. However, the mechanisms underlying sensing and reciprocal Xist/Tsix regulation remain obscure. We recently showed that a previously untested segment of the Xic, lying several hundred kilobases upstream of Xist and enriched in histone H3K27me3 and H3K9me2 marks, brings the two Xic's together prior to the onset of X inactivation (Augui et al, Science 318:1362, 2007). This X-pairing-region (Xpr) can autonomously drive Xic trans-interactions even as an ectopic single copy transgene. Furthermore its presence in male ES cells is selected against, suggesting that it may have a role in triggering Xist up regulation. We proposed that the pairwise interactions driven by this novel X-pairing-region (Xpr) of the Xic might enable a cell to sense that more than one X-chromosome is present in an XX cell, by activating biallelic Xist expression. Furthermore we believe that Xpr pairing then facilitates association between the Tsix/Xite regions, thus rendering biallelic Xist expression monoallelic. Finally, we think that Xpr could be the missing functional region of the Xic since Xpr + Xist/Tsix transgenes seem to recapitulate all Xic function in a male cell line
Lappin, Fiona M. "REDEFINITION OF THE PSEUDOAUTOSOMAL BOUNDARY OF THE CARICA PAPAYA SEX CHROMOSOMES." Miami University / OhioLINK, 2013. http://rave.ohiolink.edu/etdc/view?acc_num=miami1376205368.
Full textQiu, Zheng-qing. "Effect of gamete of origin and gene dose in X-linked hypophosphatemic mice." Thesis, McGill University, 1993. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=69690.
Full textI also studied the influence of gamete of origin on serum phosphate, tail length, renal mitochondrial 24-OHase activity, serum AP activity and vertebral bone histomorphometry in the Hyp/+ offspring of affected males (Hyp/Y) or affected females (Hyp/+ or Hyp/Hyp). I found no effect on the distribution of trait values.
I conclude that parental origin of the mutant allele does not explain the absence of a gene dose effect in Hyp mice.
Ritchie, Rachael J. "Characterisation of the molecular basis of fragility of fragile sites in Xq27.3-q28." Thesis, University of Oxford, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.296939.
Full textEscouflaire, Clémentine. "Détection chez le bovin de polymorphismes génétiques au niveau du génome mitochondrial et des chromosomes sexuels et caractérisation de leurs effets sur les caractères de production, reproduction et santé." Thesis, université Paris-Saclay, 2020. http://www.theses.fr/2020UPASA015.
Full textIn spite of the roles of the mitochondrial genome and sex chromosomes in the expression of fertility traits and energy metabolism, currently they are not considered in French bovine genomic evaluations. This work is aiming to study the genetic variability of the mitochondrial genome and the X and Y chromosomes, to detect genetic polymorphisms, and to characterize their effects on production, reproduction and health traits. Analysis of uniparental transmission patterns revealed a discrepancy between the low diversity of Y-chromosome haplotypes and the large number of mitochondrial lines in many cattle breeds. Identification of carriers of haplogroups whose divergence predates the domestication of taurine cattle has been made at a very low frequency by genotyping. Initial studies have been carried out to estimate the effect of the variants identified on the mitochondrial genome and the Y chromosome on certain traits of interest to the breeding sector. Then, a reverse genetics approach has been applied to use sequence data to detect candidate mutations responsible for defects and mutations that may have an effect on male or female fertility or lead to an X chromosome inactivation bias. In parallel, the genetic mechanism of an X-linked defect responsible for a case of hypohidrotic ectodermal dysplasia was investigated in a Holstein heifer. In conclusion, several lines for future research are proposed to initiate a better consideration of sex chromosomes and the mitochondrial genome in the selection of cattle
Cardoso, Carlos. "Etude fonctionnelle de la protéine XNP impliquée dans les syndromes de retard mentaux liés au chromosome X." Aix-Marseille 2, 1999. http://www.theses.fr/1999AIX22065.
Full textLamartine, Jérôme. "Cartographie physique de la région du syndrome lymphoprolifératif lié au chromosome X (XLP) et recherche de gènes candidats." Lyon 1, 1996. http://www.theses.fr/1996LYO1T213.
Full textRak, Justyna. "Female predominance for systemic sclerosis and rheumatoid arthritis : explanations through human leukocyte antigens, microchimerism and X chromosome = Prédominance des femmes dans la sclérodermie systémique et la polyarthrite rhumatoïde : explications par les gènes HLA-DRB, le microchimérisme et le chromosome X." Aix-Marseille 2, 2008. http://theses.univ-amu.fr.lama.univ-amu.fr/2008AIX22056.pdf.
Full textThe goal of this thesis is to explain female predominance in two autoimmune diseases (AID): Systemic sclerosis (SSc) and Rheumatoid Arthritis (RA) by studying HLA genes, microchimerism (Mc) and X chromosome. Both RA and SSc are associated with particular HLA-DRB susceptibility genes. However, HLA associations can be less pronounced in women, which then does not explain their predisposition to AID. Mc cells and/or DNA, natural sequel from pregnancy, could contribute to “auto”-immunity. Results have been controversial in SSc. Our study distinguishes two distinct profiles which explains part of the controversy. Women with diffuse SSc retain Mc preferentially in PBMC, whereas women with limited SSc retain it in other blood cells. Moreover, for the first time, we show that HLA susceptibility alleles can be transferred to women with RA who lack these alleles. Indeed 41% of women with RA, negative for HLA-DRB1*04, have HLA-DRB1*04 Mc in their PBMC versus only 8% of controls. We found that inflammatory conditions such as observed in women with end stage renal disease (before renal transplant) promote high concentrations of Mc in PBMC. Mc cells may then be attracted to inflammatory sites. The HLA relationship between the host and Mc cells as well as the host’s immune capability may then drive toward a detrimental, neutral or even beneficial role. Indeed, we showed that women with AID have skewed X chromosome inactivation (XCI), which might influence some X chromosome genes, such as FOXP3, a mandatory gene for T regulatory cells. Overall, we identified some of the actors of an intricate game conducting to female predisposition in AID
Mekada, Kazuyuki, Kazuhiro Koyasu, Masashi Harada, Yuichi Narita, Shrestha Krishna C, and Sen-Ichi Oda. "Karyotype and X-Y chromosome pairing in the Sikkim vole (Microtus (Neodon) sikimensis)." Cambridge University Press, 2002. http://hdl.handle.net/2237/10266.
Full textChevret, Edith. "Ségrégations méiotiques des chromosomes sexuels chez les sujets 46,XY et chez les sujets porteurs d'anomalies numériques de ces chromosomes : analyse par hybridation in situ fluorescente (FISH) sur les noyaux de spermatozoides humains." Université Joseph Fourier (Grenoble ; 1971-2015), 1995. http://www.theses.fr/1995GRE10072.
Full textZhang, Zhe. "In silico modeling the effect of single point mutations and rescuing the effect by small molecules binding." Paris 7, 2013. http://www.theses.fr/2013PA077054.
Full textSingle-point mutation in genome, for example, single-nucleotide polymorphism (SNP) or rare genetic mutation, is the change of a single nucleotide for another in the genome sequence. Some of them will result in an amino acid substitution in the corresponding protein sequence (missense mutations); others will not. This investigation focuses on genetic mutations resulting in a change in the amino acid sequence of the corresponding protein. This choice is motivated by the fact that missense mutations are frequently found to affect the native function of proteins by altering their structure, interaction and other properties and cause diseases. Particular disease is the Snyder-Robinson syndrome (SRS), which is an X-linked mental retardation found to be caused by missense mutations in human spermine synthase (SMS). In this thesis, a rational approach to predict the effects of missense mutations on SMS wild-type characteristics was carried. Following this work, a structure-based virtual screening of small molecules was applied to rescue the disease-causing effect by binding the small molecules to the corresponding malfunctioning SMS mutant
Wittwer, Pia Ethena. "Physical and genetical investigation of the Xp11.3 region on the short arm of the human X-chromosome." Thesis, University of the Western Cape, 2004. http://etd.uwc.ac.za/index.php?module=etd&.
Full textBrun, Christine. "Organisation en boucles de la molécule d'ADN et réplication : tude de la région 14B-15B du chromosome X et de l'unité des gènes ribosomiques de Drosophila melanogaster." Aix-Marseille 2, 1992. http://www.theses.fr/1992AIX22017.
Full textPessia, Eugénie. "Comment le X vient-il à la rescousse du Y ? : évolution de la compensation de dosage des XY humains et autres questions sur l'évolution des chromosomes sexuels eucaryotes." Thesis, Lyon 1, 2013. http://www.theses.fr/2013LYO10261/document.
Full textThe first part of my thesis concerns two different mechanisms of the Y being rescued by the X. Firstly, I contributed to a controversy on mammalian dosage compensation. During the 60s Susumo Ohno hypothesized a two-step dosage compensation mechanism. In males, the high loss of Y-linked genes led to a dosage imbalance: these genes were previously present in two allelic copies and became unicopy, meaning that their expression has been halved. According to Ohno’s hypothesis, in response to this imbalance the mammalian X would have doubled its expression in the two sexes, resulting in a to high expression in females. This second dosage imbalance would have been resolved by the random inactivation of one of the two Xs in females. Whereas the second part of Ohno’s hypothesis, the X-chromosome inactivation, has been well studied, the first part remained speculative until the 2000s. I studied human X-linked expression data and was able to show, concomitantly with other authors, that the first part of Ohno’s hypothesis is not totally true as only some of the X-linked genes are hyperexpressed. I later participated in the writing of a review aiming to give an alternative hypothesis for the evolution of X-chromosome inactivation in mammalian females than dosage compensation. Secondly, I studied signatures of X-Y gene conversion in several genes within numerous primate species. Myresults led me to discuss if these events were indeed selected for. I hypothesize that these gene conversion events occurred in a neutral manner. These two different studies suggest that the X chromosome may not be as much a help for the Y as has been suggested. Lastly, moving away from model species, I studied the peculiar sex chromosomes of a brown alga: Ectocarpus siliculosus. This work allowed me to test if the current hypotheses on sex chromosome evolution still hold in a eukaryotic group that diverged from animals more than one billion years ago
Grön, M. (Mathias). "Effects of human X and Y chromosomes on oral and craniofacial morphology:studies of 46,XY females, 47,XYY males and 45,X/46,XX females." Doctoral thesis, University of Oulu, 1999. http://urn.fi/urn:isbn:9514253744.
Full textLähdesmäki, R. (Raija). "Sex chromosomes in human tooth root growth:radiographic studies on 47,XYY males, 46,XY females, 47,XXY males and 45,X/46,XX females." Doctoral thesis, University of Oulu, 2006. http://urn.fi/urn:isbn:9514281705.
Full textCiaudo, Constance. "Caractérisation fonctionnelle de nouveaux facteurs trans impliqués dans le processus d'inactivation du chromosome X murin." Paris 7, 2006. http://www.theses.fr/2006PA077084.
Full textIn mammals, each cell of the female contains two X chromosomes and hence, potentially a double dose of ail X-linked genes when compared to XY males, who carry a single X chromosome. X-inactivation is the mechanism that ensures the dosage-compensation of X-linked gene products between the two sexes. X-inactivation is under the control of a specific region of the X chromosome, the X inactivation center (Xic), which contains the Xist gene encoding a large noncoding RNA transcript whose upregulation is critical to the initiation of X-inactivation. As an approach to the identification of some of the potential molecular players in this process we have performed comparative transcriptional profiling of mouse 6. 5 dpc (days post-coïtum) female and male embryos using a modified SAGE (Serial analysis of gene expression) technique which allows the analysis of small quantifies of biological material. At 6. 5 dpc, a moment when random X-inactivation of embryonic tissues has just been achieved, some two hundred transcripts that were significantly enriched in the female gastrula compared to its male counterpart could be identified. The validation of an association with the X-inactivation process of a subset of these transcripts has been studied, ex vivo, in differentiating female and male ES cells and in female ES cells. We identified the Eif1 gene involved in translation initiation and RNA degradation. We show here that female embryonic stem cell lines, silenced by RNA interference for the Eif1 gene, are unable to form Xist RNA domains upon differentiation and fail to undergo X-inactivation. To probe further an effect involving RNA degradation pathways, the inhibition by RNA interference of Rent1, a factor essentiel for nonsense-mediated decay and Exosc1O, a specific nuclear component of the exosome, was analysed and shown to similarly impair Xist upregulation and XCI. Inhibition of the function of one or other of these genes leads to a failure of the female cells to undergo X inactivation, suggesting that post-transcriptional nuclear mRNA degradation pathway(s) are essential for the regulation of Xist RNA metabolism and X chromosome inactivation process
Wang, Qing. "Syndrome lymphoprolifératif lié au chromosome X (XLP) : contribution à la localisation du locus de la maladie et à la cartographie physique de la région Xq24-25." Lyon 1, 1993. http://www.theses.fr/1993LYO1T025.
Full textZanni, Ginevra. "Génétique et physiopathologie des dysgénésies du cervelet liées au chromosome X." Paris 5, 2007. http://www.theses.fr/2007PA05D037.
Full textWe have developed different strategies to define and analyse critical regions of cerebellar dysgenesis on the X chromosome. We have identified by linkage analysis, a new locus for X-linked congenital ataxia in Xq25-q27. By screening OPHN1, a gene originally implicated in non-specific mental retardation, we have identified mutations in 12% of cases with associated cerebellar hypoplasia, outlining its role in human cerebellum development. We have implicated the AP1S2 gene in Fried syndrome, caracterised by mental retardation hydrocephalus, intracerebral calcifications and occasionally vermis hypoplasia, confirming the association between mental retardation genes and cerebellar development anomalies. Beyond the fundamental interest in understanding the genetics and physiopathology of X-linked cerebellar dysgenesis, these studies provide a better diagnostic orientation and a more precise genetic counseling to families with X-linked mental retardation or congenital cerebellar anomalies
Teller, Kathrin. "Die Architektur des X-Chromosoms." Diss., lmu, 2008. http://nbn-resolving.de/urn:nbn:de:bvb:19-90558.
Full textVicoso, Beatriz. "X chromosome evolution in Drosophila." Thesis, University of Edinburgh, 2008. http://hdl.handle.net/1842/3183.
Full textNava, Caroline. "Identification de nouveaux gènes et de facteurs de susceptibilité dans les Troubles du Spectre Autistique par étude des microréarrangements génomiques et de l’exome du chromosome X." Paris 6, 2013. http://www.theses.fr/2013PA066572.
Full textAutism spectrum disorders (ASD) are neurodevelopmental disorders characterized by an extreme clinical and genetic heterogeneity. In most cases, the causes of the disorders remain unknown; however, a genetic cause is so far identified in 30% of the patients. Our main objective was to identify genetic factors involved in ASD from a cohort of 205 prospectively recruited patients. More specifically, we have screened the genes encoding Neuroligins and SHANK3, analyzed the copy number variants (CNV) using microarrays and sequenced the exome of chromosome X in selected patients. Candidate genes identified by these approaches were screened in our cohort of patients and functional analyses were performed. Two novel genes on chromosome X were identified: TMLHE, encoding the enzyme catalyzing the first step of carnitine biosynthesis, and SLC7A3, encoding a cationic amino acid transporter. We also report mutations in SHANK3, PHF8 and HUWE1, a 15q11q13 triplication, a 9p24 deletion, a 3q29 deletion, and a 16p11. 2 duplication in four patients; mutations in these genes or these CNV were previously described in patients with ASD or intellectual disability (ID). Finally, we describe two genes, PTGER3 and DOCK10, possibly causing autosomal recessive ASD. This study has allowed the identification of new genes associated with ASD and has confirmed the genetic heterogeneity in ASD and the overlap with genes causing ID. The observation of several genetic factors possibly contributing to ASD in some patients prompted us to discuss oligogenic inheritance models. Finally, this study has assessed the possibility of performing a molecular diagnosis by exome sequencing at an individual scale
Maier, Esther Maria. "X-Inaktivierung bei heterozygoten Überträgerinnen X-chromosomal gebundener Adrenoleukodystrophie." Diss., lmu, 2002. http://nbn-resolving.de/urn:nbn:de:bvb:19-1606.
Full textRosenberg-Bourgin, Myriam. "Etude comparative des gènes ribosomaux de chromosomes X et Y de différentes souches de laboratoire chez Drosophila melanogaster." Grenoble 2 : ANRT, 1987. http://catalogue.bnf.fr/ark:/12148/cb37609476w.
Full textHidalgo, André Marubayashi. "Fine mapping and single nucleotide polymorphism effects estimation on pig chromosomes 1, 4, 7, 8, 17 and X." Universidade Federal de Viçosa, 2011. http://locus.ufv.br/handle/123456789/4753.
Full textCoordenação de Aperfeiçoamento de Pessoal de Nível Superior
Mapeamento de loci de caracaterística quantitativas (QTL) geralmente resultam na detecção de regiões genômicas que explicam parte da variação quantitativa da característica. Entretanto essas regiões são muito amplas e não permitem uma acurada identificação dos genes. Dessa forma, torna-se necessário o estreitamento dos intervalos onde os QTL estão localizados. Com a seleção genômica ampla (GWS), foram desenvolvidas ferramentas estatísticas de forma a se estimar os efeitos de cada marcador. A partir dos valores desses efeitos, pode-se analisar quais são os marcadores de maiores efeitos. Assim, objetivou-se realizar o mapeamento fino dos cromossomos suínos 1, 4, 7, 8, 17, e X, usando marcadores microsatélites e polimorfismo de base única (SNP), em uma população F2 produzida pelo cruzamento de varrões da raça naturalizada brasileira Piau com fêmeas comerciais, associados com características de desempenho, carcaça, orgãos internos, cortes e qualidade de carne. Também objetivou-se estimar os efeitos dos marcadores SNP nas características que tiveram QTL detectados, analisar quais são os mais expressivos e verificar se eles estão localizados dentro do intervalo de confiança do QTL. Os QTL foram identificados por meio do método regressão por intervalo de mapeamento e as análises foram realizadas pelo software GridQTL. O efeito de cada marcador foi estimado pela regressão de LASSO Bayesiano, usando o software R. No total, 32 QTL foram encontrados ao nível cromossômico de significância de 5%, destes, 12 eram significativos ao nível cromossômico de 1% e 7 destes eram significativos ao nível genômico de 5%. Seis de sete QTL apresentaram marcadores de efeito expressivo dentro do intervalo de confiança do QTL. Resultados deste estudo confirmaram QTL de outros trabalhos e identificaram vários outros novos. Os resultados encontrados utilizando marcadores microsatélites junto com SNPs aumentaram a saturação do genoma levando a um menor intervalo de confiança dos QTL encontrados. Os métodos usados foram importantes para estimar os efeitos dos marcadores, e também para localizar aqueles com efeitos mais expressivos dentro do intervalo de confiança do QTL, validando os QTL encontrados pelo método da regressão.
Quantitative Trait Loci (QTL) mapping efforts often result in the detection of genomic regions that explain part of the quantitative trait variation. However, these regions are very large and do not allow accurate gene identification, hence the interval must be narrowed where the QTL was located. With the genome wide selection (GWS), many statistical tools have been developed in order to estimate the effects for each marker. With the marker effects values it is possible to analyze which markers have large effects. Hence, the objective of this investigation was to fine map pig chromosomes 1, 4, 7, 8, 17 and X, using microsatellites and SNP markers, in a F2 population produced by crossing naturalized Brazilian Piau boars with commercial females, associated with performance, carcass, internal organs, cut yields and meat quality traits. A further aim was to estimate the effects of single nucleotide polymorphism (SNP) markers on traits with detected QTL, analyze the most expressive ones and verify whether the markers with larger effects were indeed within the QTL confidence interval. QTL were identified by regression interval mapping using the GridQTL software. Individual marker effects were estimated by Bayesian LASSO regression using the R software. In total, 32 QTL for the studied traits were significant at the 5% chromosome-wide level, including 12 significant QTL at the 1% chromosome-wide level and 7 significant at the 5% genome-wide level. Six out of seven QTL with genome-wide significance had markers of large effect within their confidence interval. These results confirmed some previous QTL and identified numerous novel QTL for the investigated traits. Our results have shown that the use of microsatellites and SNP markers that increase the genome saturation lead to QTL of smaller confidence intervals. The methods used were also valuable to estimate the marker effects and to locate the most expressive markers within the QTL confidence interval, validating those QTL found by the regression method.
Oldfield, Andrew. "Etude du réseau transcriptionnel du gène Xist, acteur principal de l'inactivation du chromosome X." Phd thesis, Université Pierre et Marie Curie - Paris VI, 2010. http://tel.archives-ouvertes.fr/tel-00815096.
Full textSprong, Amy Nicole. "X Chromosome Aneuploidy: A Look at the Effects of X Inactivation." Miami University Honors Theses / OhioLINK, 2008. http://rave.ohiolink.edu/etdc/view?acc_num=muhonors1209079846.
Full textBustamante, Jacinta Cecilia. "Défaut héréditaire de CYBB et prédisposition mendélienne aux infections mycobactériennes." Paris 5, 2007. http://www.theses.fr/2007PA05A003.
Full textMendelian susceptibility to mycobacterial disease (MSMD) is a rare syndrome conferring predisposition to clinical disease caused by weakly virulent mycobacteria (bacille Calmette Guérin vaccines and environmental mycobacteria), as well as more virulent. M. Tuberculosis and salmonella. Mutations found in six genes involved IL12/IL23-IFNγ mediated immunity. We studied a multiples family in which four otherwise healthy adult males show mycobacterial diseases (BCG-osis and tuberculosis). By multipoint linkage analysis, a maximal Lod score of 1. 93 was found for two candidate regions on X-chromosome. The patients harbor a novel mutation in CYBB (Q231P), which abolishes the respiratory burst in monocyte-derived macrophages. This gene is an essential component of NADPH in phagocytes. Germline CYBB mutations are commonly associated with chronic granulomatous disease. The MSMD-causing mutation in CYBB selectively affects the respiratory burst in macrophages. This experiment of nature indicates that the pathway in human macrophages is crucial for protective immunity to mycobacteria
Cotton, Allison Marie. "Patterns of DNA methylation on the human X chromosome and use in analyzing X-chromosome inactivation." Thesis, University of British Columbia, 2012. http://hdl.handle.net/2429/40363.
Full textChen, Zheng-Yi. "Molecular biology of X-chromosome disease." Thesis, University of Oxford, 1992. http://ora.ox.ac.uk/objects/uuid:8214a2f6-0bfa-4ea4-8f48-b8a20f29318c.
Full textNorris, Dominic Paul. "X chromosome inactivation in the mouse." Thesis, Open University, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.282142.
Full textApedaile, Anwyn Emily. "Dynamics of DNA methylation on the mammalian X-chromosome during X-inactivation." Thesis, Imperial College London, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.444592.
Full textLuikenhuis, Sandra 1972. "Studies on X chromosome inactivation and the X-linked disease Rett syndrome." Thesis, Massachusetts Institute of Technology, 2004. http://hdl.handle.net/1721.1/28676.
Full textIncludes bibliographical references.
(cont.) the RTT phenotype.
Deletion of the Xist gene results in skewed X-inactivation. To distinguish primary non-random choice from post-choice selection, we analyzed X-inactivation in early embryonic development in the presence of two different Xist deletions. We found that Xist is an important choice element, and that in the absence of an intact Xist gene, the X chromosome will never be chosen as the active X. To understand the molecular mechanisms that affect choice we analyzed the role of replication timing prior to X-inactivation. The X chromosomes replicated asynchronously before X-inactivation but analysis of cell-lines with skewed X-inactivation showed no preference for one of the two Xist alleles to replicate early, indicating that asynchronous replication timing prior to X-inactivation does not play a role in skewing of X-inactivation. Expression of the Xist is negatively regulated by its antisense gene, Tsix. In order to determine the role of transcription in Tsix function, we modulated Tsix transcription with minimal disturbance of the genomic sequence. Loss of Tsix transcription lead to non-random inactivation of the targeted chromosome, whereas induction of Tsix expression caused the targeted chromosome always to be chosen as the active X. These results for the first time establish a function for antisense transcription in the regulation of Xist expression. The X-linked disease Rett syndrome (RTT), a neurodevelopmental disorder, is caused by mutations in the MECP2 gene. We used a mouse model to test the hypothesis that RTT is exclusively caused by neuronal MeCP2 deficiency. Expression of an Mecp2 transgene in postmitotic neurons resulted in symptoms of severe motor dysfunction. Transgene expression in Mecp2 mutant mice, however, rescued
by Sandra Luikenhuis.
Ph.D.