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Relevant bibliographies by topics / Pseudoautosomal region

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Academic literature on the topic 'Pseudoautosomal region'

Author: Grafiati

Published: 5 June 2025

Last updated: 24 June 2025

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Journal articles on the topic "Pseudoautosomal region"

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Weissenbach, Jean, Jacqueline Levilliers, Christine Petit, François Rouyer, and Marie-Christine Simmler. "Normal and abnormal interchanges between the human X and Y chromosomes." Development 101, Supplement (1987): 67–74. http://dx.doi.org/10.1242/dev.101.supplement.67.

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A single obligatory recombination event takes place at male meiosis in the tips of the X- and Y-chromosome short arms (i.e. the pseudoautosomal region). The crossover point is at variable locations and thus allows recombination mapping of the pseudoautosomal loci along a gradient of sex linkage. Recombination at male meiosis in the terminal regions of the short arms of the X and Y chromosomes is 10- to 20-fold higher than between the same regions of the X chromosomes during female meiosis. The human pseudoautosomal region is rich in highly polymorphic loci associated with minisatellites. However, these minisatellites are unrelated to those resembling the bacterial Chi sequence and which possibly represent recombination hotspots. The high recombination activity of the pseudoautosomal region at male meiosis sometimes results in unequal crossover which can generate various sex-reversal syndromes.

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Ellis, N., and P. N. Goodfellow. "The mammalian pseudoautosomal region." Trends in Genetics 5 (1989): 406–10. http://dx.doi.org/10.1016/0168-9525(89)90199-6.

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Raudsepp, Terje, and Bhanu P. Chowdhary. "The Eutherian Pseudoautosomal Region." Cytogenetic and Genome Research 147, no. 2-3 (2015): 81–94. http://dx.doi.org/10.1159/000443157.

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The pseudoautosomal region (PAR) is a unique segment of sequence homology between differentiated sex chromosomes where recombination occurs during meiosis. Molecular and functional properties of the PAR are distinctive from the autosomes and the remaining regions of the sex chromosomes. These include a higher rate of recombination than genome average, bias towards GC-substitutions and increased interindividual nucleotide divergence and mutations. As yet, the PAR has been physically demarcated in only 28 eutherian species representing 6 mammalian orders. Murid rodents have the smallest, gene-poorest and most diverged PARs. Other eutherian PARs are largely homologous but differ in size and gene content, being the smallest in equids and human/simian primates and much larger in other eutherians. Because pseudoautosomal genes escape X inactivation, their dosage changes with sex chromosome aneuploidies, whereas phenotypic effects of the latter depend on the size and gene content of the PAR. Thus, X monosomy is more viable in mice, humans and horses than in species with larger PARs. Presently, little is known about the functions of PAR genes in individual species, though human studies suggest their involvement in early embryonic development. The PAR is, thus, of evolutionary, genetic and biomedical significance and a ‘research hotspot' in eutherian genomes.

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Id-Lahoucine, Samir, Joaquim Casellas, Pablo A. S. Fonseca, Aroa Suárez-Vega, Flavio S. Schenkel, and Angela Cánovas. "Deviations from Mendelian Inheritance on Bovine X-Chromosome Revealing Recombination, Sex-of-Offspring Effects and Fertility-Related Candidate Genes." Genes 13, no. 12 (2022): 2322. http://dx.doi.org/10.3390/genes13122322.

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Transmission ratio distortion (TRD), or significant deviations from Mendelian inheritance, is a well-studied phenomenon on autosomal chromosomes, but has not yet received attention on sex chromosomes. TRD was analyzed on 3832 heterosomal single nucleotide polymorphisms (SNPs) and 400 pseudoautosomal SNPs spanning the length of the X-chromosome using 436,651 genotyped Holstein cattle. On the pseudoautosomal region, an opposite sire-TRD pattern between male and female offspring was identified for 149 SNPs. This finding revealed unique SNPs linked to a specific-sex (Y- or X-) chromosome and describes the accumulation of recombination events across the pseudoautosomal region. On the heterosomal region, 13 SNPs and 69 haplotype windows were identified with dam-TRD. Functional analyses for TRD regions highlighted relevant biological functions responsible to regulate spermatogenesis, development of Sertoli cells, homeostasis of endometrium tissue and embryonic development. This study uncovered the prevalence of different TRD patterns across both heterosomal and pseudoautosomal regions of the X-chromosome and revealed functional candidate genes for bovine reproduction.

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Crow, Timothy J., Lynn E. Delisi, Raymond Lofthouse, et al. "An Examination of Linkage of Schizophrenia and Schizoaffective Disorder to the Pseudoautosomal Region (Xp22.3)." British Journal of Psychiatry 164, no. 2 (1994): 159–64. http://dx.doi.org/10.1192/bjp.164.2.159.

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We investigated linkage between schizophrenia and the loci DXYS14, DXYS17, and MIC2 within the pseudoautosomal region in 85 families with two or more siblings suffering from schizophrenia or schizoaffective disorder. A maximum lod score of 2.44 was reached at MIC2, with a dominant model of inheritance at a recombination fraction of 0.367 in females and 0.046 in males (a F: M sex ratio > 1, i.e. opposite to that expected with a pseudoautosomal locus). Evidence consistent with linkage (P = 0.01) was also obtained with a sibling pair analysis at the MIC2 locus. These data do not support (although they do not definitively exclude) a locus within the pseudoautosomal region; they are consistent with the presence of a gene that predisposes to schizophrenia in the sex-specific regions of the X and Y chromosomes.

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Roubertoux, P. L., M. Carlier, H. Degrelle, M. C. Haas-Dupertuis, J. Phillips, and R. Moutier. "Co-segregation of intermale aggression with the pseudoautosomal region of the Y chromosome in mice." Genetics 136, no. 1 (1994): 225–30. http://dx.doi.org/10.1093/genetics/136.1.225.

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Abstract The sexual dimorphism of aggression has led to a search for its Y chromosomal correlates. We have previously confirmed that initiation of attack behavior against a conspecific male is Y-dependent in two strains of laboratory mice (NZB and CBA/H). We provide evidence that the non-pseudoautosomal region of the Y is not involved and that only the pseudoautosomal region of the Y is correlated with initiation of attack behavior. The autosomal correlates also contribute to this behavior in an additive or interactive manner with the pseudoautosomal correlates.

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Das, P. J., B. P. Chowdhary, and T. Raudsepp. "Characterization of the Bovine Pseudoautosomal Region and Comparison with Sheep, Goat, and Other Mammalian Pseudoautosomal Regions." Cytogenetic and Genome Research 126, no. 1-2 (2009): 139–47. http://dx.doi.org/10.1159/000245913.

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Ogushi, Kenichiro, Atsushi Hattori, Erina Suzuki, et al. "DNA Methylation Status of SHOX-Flanking CpG Islands in Healthy Individuals and Short Stature Patients with Pseudoautosomal Copy Number Variations." Cytogenetic and Genome Research 158, no. 2 (2019): 56–62. http://dx.doi.org/10.1159/000500468.

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SHOX resides in the short arm pseudoautosomal region (PAR1) of the sex chromosomes and escapes X inactivation. SHOX haploinsufficiency underlies idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis (LWD). A substantial percentage of cases with SHOX haploinsufficiency arise from pseudoautosomal copy number variations (CNVs) involving putative enhancer regions of SHOX. Our previous study using peripheral blood samples showed that some CpG dinucleotides adjacent to SHOX exon 1 were hypomethylated in a healthy woman and methylated in a woman with gross X chromosomal rearrangements. However, it remains unknown whether submicroscopic pseudoautosomal CNVs cause aberrant DNA methylation of SHOX-flanking CpG islands. In this study, we examined the DNA methylation status of SHOX-flanking CpG islands in 50 healthy individuals and 10 ISS/LWD patients with pseudoautosomal CNVs. In silico analysis detected 3 CpG islands within the 20-kb region from the translation start site of SHOX. Pyrosequencing and bisulfite sequencing of genomic DNA samples revealed that these CpG islands were barely methylated in peripheral blood cells and cultured chondrocytes of healthy individuals, as well as in peripheral blood cells of ISS/LWD patients with pseudoautosomal CNVs. These results, in conjunction with our previous findings, indicate that the DNA methylation status of SHOX-flanking CpG islands can be affected by gross X-chromosomal abnormalities, but not by submicroscopic CNVs in PAR1. Such CNVs likely disturb SHOX expression through DNA methylation-independent mechanisms, which need to be determined in future studies.

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Kalsi, Gursharan, David Curtis, Jon Brynjolfsson, et al. "Investigation by Linkage Analysis of the XY Pseudoautosomal Region in the Genetic Susceptibility to Schizophrenia." British Journal of Psychiatry 167, no. 3 (1995): 390–93. http://dx.doi.org/10.1192/bjp.167.3.390.

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BackgroundA susceptibility locus for schizophrenia in the pseudoautosomal region has been proposed on the basis of a possible excess of sex chromosome aneuploidies among patients with schizophrenia and an increased sex concordance in affected sib pairs. Several studies investigating this hypothesis have produced conflicting evidence.MethodIn a series of Icelandic and British families, we used lod score and sib pair linkage analyses with markers for the MIC2 and DXYS14 loci on the pseudoautosomal XY region.ResultsLod and sib pair linkage analysis with these markers produced strongly negative scores. Heterogeneity testing also produced negative results.ConclusionWe conclude that the present study provides no support for the involvement of either the pseudoautosomal region or the nearby region of the sex chromosomes in the aetiology of schizophrenia.

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Crow, Timothy J., Lynn E. DeLisi, and Eve C. Johnstone. "Concordance by Sex in Sibling Pairs with Schizophrenia is Paternally Inherited." British Journal of Psychiatry 155, no. 1 (1989): 92–97. http://dx.doi.org/10.1192/bjp.155.1.92.

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The hypothesis that the gene for schizophrenia is located in the pseudoautosomal region of the sex chromosomes predicts that same-sex concordance will occur in paternally rather than maternally derived pairs. In 120 families that included at least one sibling pair with schizophrenia, affected members were significantly more likely to be of the same sex when there was a history of illness on the paternal than on the maternal side, the difference remaining significant when parent of origin was assessed by three different methods. The finding is as predicted by the pseudoautosomal hypothesis: therefore a search for the gene should be focused on this small (three megabase) region of the genome. The ratio of same to mixed sex pairs in paternally-derived cases (approximately 3:1) suggests the gene is located in the centromeric one-third of the pseudoautosomal region.

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Dissertations / Theses on the topic "Pseudoautosomal region"

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Mensah, Martin Atta [Verfasser]. "Pseudoautosomal region 1 length polymorphism in the human population / Martin Atta Mensah." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2015. http://d-nb.info/1075493676/34.

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Conway, Daren Joseph. "Towards a complete cosmid contig map of the short arm pseudoautosomal region." Thesis, University College London (University of London), 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.265068.

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Slingsby, Michael Timothy. "DNA diversity and meiotic crossover distribution in the Xp/Yp pseudoautosomal region." Thesis, University of Leicester, 2003. http://hdl.handle.net/2381/30350.

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High resolution analyses indicate that meiotic crossovers in human autosomes tend to cluster into 1-2 kb hotspots separated by blocks of high LD tens to hundreds of kilobases long. In contrast, low resolution data suggest only modest regional variation in recombination efficiency across the 2.6 Mb Xp/Yp pseudoautosomal region (PAR1), a male-specific recombination hot domain with a recombination rate about twenty times higher than the genome average. Recent data suggest a more complex picture of PAR1 recombination. Around the SHOX gene, 500 kb from the telomere, LD decays extremely rapidly with physical distance, but nearly all crossovers cluster into a highly localised hotspot about 2 kb wide. In contrast, SNPs in a 1.5 kb region immediately adjacent to the PAR1 telomere are in intense LD, implying that this region is recombinationally inert and that male crossover activity terminates at a currently unidentified boundary in the distal region of PAR1. To further investigate PAR1 recombination, the PGPL gene, 80 kb from the telomere, was targeted for analysis. This region had to be sequenced prior to SNP discovery and recombination analysis, revealing a novel gene that is potentially the most telomeric gene in PAR1. SNP analysis of a 33 kb PGPL interval showed that this region is in free association with the telomere, suggesting recombinational activity in the intervening region, which this study proved to be rich in tandem repeats. Within the PGPL region, LD decays slowly with physical distance at a rate consistent with randomly-distributed crossovers occurring at close to the genome average rate. However, sperm crossover analysis revealed it to be the most recombinationally active region of DNA yet identified. Moreover, the novel distribution of crossovers in the region, suggests that there is not a unified set of hotspot-based rules that govern meiotic recombination in the human genome.

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Sarbajna, Shriparna. "Analysis of meiotic recombination in the human pseudoautosomal regions." Thesis, University of Leicester, 2012. http://hdl.handle.net/2381/10839.

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Meiotic recombination in humans is essential for the faithful segregation of chromosomes during meiosis and is key in generating genetic diversity. Inferring past events from contemporary SNP haplotypes and studying de novo events in sperm DNA has shown that recombination occurs within 1-2 kb wide ‘hot spots’ in the human genome. In terms of male recombination, the pseudoautosomal regions (PARs) are especially interesting. PAR1 undergoes obligatory crossover in male meiosis and therefore constitutes a male-specific recombination ‘hot’ domain (rate approximately 20-fold above the genome average). It is thus ideally suited to sperm DNA studies. PAR2 is not essential in male meiosis, but nonetheless recombines at a rate >6-times the genome average. Despite this, relatively little is known about the fine-scale distribution of recombination in either pseudoautosomal region. To address this, linkage disequilibrium analysis and high-resolution sperm typing was used in this work, in order to identify and characterise a collection of PAR hot spots. This survey led to the identification of five active PAR hot spots, thereby providing relatively easy access to crossovers and noncrossovers. A second hot spot was identified in the SHOX region, providing information on hot spot spacing in PAR1 and facilitating important comparisons with autosomes. The first PAR1 double hot spot, a potential resource for investigating crossover interference, was also identified. Data from the two PAR2 hot spots (SPRY3 and PAR2A) provided direct evidence of hot spot activation by trans-acting PRDM9, with different protein variants activating either hot spot. The strongest meiotic drive observed at any human hot spot was also identified at SPRY3, providing insights into likely mechanisms of hot spot evolution. Finally, an extensive survey at SPRY3 provided unprecedented insights into the relative frequencies of crossovers and noncrossovers at hot spots and highlighted the presence of a second pathway of noncrossover-formation in humans.

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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.

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Santos, Carla Sofia Ribeiro dos. "The genes from the pseudoautosomal region 1 (PAR1) of the mammalian sex chromosomes: synteny, phylogeny and selection." Master's thesis, 2020. https://hdl.handle.net/10216/131339.

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Santos, Carla Sofia Ribeiro dos. "The genes from the pseudoautosomal region 1 (PAR1) of the mammalian sex chromosomes: synteny, phylogeny and selection." Dissertação, 2020. https://hdl.handle.net/10216/131339.

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Flaquer, Massanet Antònia [Verfasser]. "Genetic linkage studies in the pseudoautosomal region of the human sex chromosomes / vorgelegt von Ant`onia Flaquer Massanet." 2009. http://d-nb.info/993631061/34.

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Palaski, Kathleen M. "Development of a protocol for identifying DNA markers from the pseudoautosomal region in a backcross generat[i]on of rats /." 2003. http://www.consuls.org/record=b2585638.

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Thesis (M.A.)--Central Connecticut State University, 2003.<br>Thesis advisor: Thomas R. King. " ... in partial fulfillment of the requirements for the degree of Master of Arts in Biological Sciences." Includes bibliographical references (leaves 35-39). Also available via the World Wide Web.

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Cerase, Andrea. "Struttura e regolazione genica della seconda regione pseudoautosomale umana (PAR2)." Tesi di dottorato, 2007. http://www.fedoa.unina.it/2313/1/Cerase_Biologia_Avanzata.pdf.

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Book chapters on the topic "Pseudoautosomal region"

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Arnemann, J. "Pseudoautosomale Region." In Springer Reference Medizin. Springer Berlin Heidelberg, 2019. http://dx.doi.org/10.1007/978-3-662-48986-4_3569.

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Arnemann, J. "Pseudoautosomale Region." In Lexikon der Medizinischen Laboratoriumsdiagnostik. Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/978-3-662-49054-9_3569-1.

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Crow, T. J., L. E. DeLisi, and E. C. Johnstone. "Clues to the Nature and Location of the Psychosis Gene: Is Schizophrenia Due to an Anomaly of the Cerebral Dominance Gene Located in the Pseudoautosomal Region of the Sex Chromosomes?" In Genetics of Neuropsychiatric Diseases. Macmillan Education UK, 1989. http://dx.doi.org/10.1007/978-1-349-10729-2_18.

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Wildenauer, D. B., F. Schmidt, S. Schwab, et al. "Untersuchungen zur Kopplung zwischen Schizophrenie und der pseudoautosomalen Region." In Biologische Psychiatrie der Gegenwart. Springer Vienna, 1993. http://dx.doi.org/10.1007/978-3-7091-9263-4_38.

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Silver, L. "Pseudoautosomal Linkage, Region." In Encyclopedia of Genetics. Elsevier, 2001. http://dx.doi.org/10.1006/rwgn.2001.1047.

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Wilson Sayres, M. A. "Pseudoautosomal Linkage, Region ☆." In Reference Module in Life Sciences. Elsevier, 2017. http://dx.doi.org/10.1016/b978-0-12-809633-8.06975-2.

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Wilson Sayres, M. A. "Pseudoautosomal Linkage, Region." In Brenner's Encyclopedia of Genetics. Elsevier, 2013. http://dx.doi.org/10.1016/b978-0-12-374984-0.01235-3.

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"PAR (pseudoautosomal region)." In Encyclopedia of Genetics, Genomics, Proteomics and Informatics. Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_12258.

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Tyler-Smith, Chris. "What Can the Y Chromosome Tell Us about the Origin of Modern Humans?" In The Speciation of Modern Homo Sapiens. British Academy, 2004. http://dx.doi.org/10.5871/bacad/9780197263112.003.0012.

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This chapter outlines the peculiar genetic history and population characteristics of the Y chromosome, including the interaction with the X. The small size of the Y and its sex-limited transmission make it at first sight an unlikely vehicle for the determining characteristic of the species. Human and ape Y lineages are generally believed to have split about 5–7 million years ago, while extant human Y lineages trace back to a common ancestor that probably lived between 40 and 200 thousand years ago. Between these dates, two substantial segments of DNA on the Y chromosome were duplicated on the Y: the Yq pseudoautosomal region and the Xq/Yp homology region. The former does not contain any good candidate speciation genes but the latter may. The Xq-Yp transposition probably occurred soon after the ape-human split and, at the same time or subsequently, was divided in two by an inversion.

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Belger, Aysenil, and Sarah J. Hart. "Cognitive and Behavioral Manifestations in Turner Syndrome." In Cognitive and Behavioral Abnormalities of Pediatric Diseases. Oxford University Press, 2010. http://dx.doi.org/10.1093/oso/9780195342680.003.0029.

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Turner Syndrome (TS) is a common genetic disorder that affects approximately 1 in 1,900 live female births. Like other sex chromosome abnormalities (SCAs), TS has high morbidity due to associated congenital abnormalities, neurodevelopmental disturbances, neurocognitive deficits, and social-behavioral problems. Many individuals with TS are not diagnosed. Those who are identified may be subject to inadequate care, bias, and discrimination because of a poor understanding of the condition among families, health care providers, and educators, especially regarding developmental profiles and outcomes. Turner syndrome results from an abnormal or missing second sex (i.e., X) chromosome, and by definition, affects only females. There is tremendous variability in the clinical presentations of individuals with TS that is likely due to the variable nature of the genetic abnormality. Approximately 50% of girls with TS have a 45X karyotype (Savendahl and Davenport 2000; Soriano-Guillen et al. 2005; Sybert and McCauley 2004), with the remainder having either a structural abnormality or mosaicism involving the X chromosome. Structural changes of the X chromosome include deletions, breakage of both arms to form a ring chromosome, or breakage and exchange in the X centromere region to form an isochromosome. Common mosaic patterns include 45,X/46,XX, 45,X/46,X,i(X), and 45, X/46,XY (Table 19.1). Correlations of clinical phenotype with cytogenetic data are further complicated by the wide range of structural abnormalities, as well as by mosaicism, differences in X-inactivation patterns, and the presence of abnormal recessive genes (Ogata and Matsuo 1995). Girls with 45X karyotype tend to be most severely affected, and there is less variability within this group than in the population as a whole. Many of the clinical manifestations of TS can be understood in the context of reduced expression of genes on the X chromosome (Neely 1994; Zinn and Ross 1998; Zinn et al. 1998). In normal females, one X chromosome is inactivated; however, the process is not complete. Genes on the X-chromosome that are not inactivated, so-called pseudoautosomal genes, are present in a cluster near the tip of the short arm and scattered elsewhere.

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