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Journal articles on the topic 'Pseudoautosomal region'

Author: Grafiati

Published: 5 June 2025

Last updated: 24 June 2025

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1

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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2

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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3

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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4

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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5

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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6

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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7

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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8

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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9

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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10

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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11

Asherson, P., E. Parfitt, M. Sargeant, et al. "No Evidence for a Pseudoautosomal Locus for Schizophrenia." British Journal of Psychiatry 161, no. 1 (1992): 63–68. http://dx.doi.org/10.1192/bjp.161.1.63.

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Evidence for a pseudoautosomal locus for a schizophrenia susceptibility gene was sought by two forms of analysis of 25 multiply affected families. Firstly, in the sample as a whole there was an excess of same-sex over mixed-sex siblings compared with that expected. Secondly, linkage analysis was performed in six of the families. The genotypes were studied for DXYS14, a highly polymorphic marker in the telomeric pseudoautosomal region. No evidence for positive linkage was found with two-point analysis under eight different genetic models for the mode of transmission. A non-parametric, sibling-pair analysis also failed to detect linkage. Our findings provide no evidence for linkage within the pseudoautosomal region; same-sex concordance must arise from some other mechanism.

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12

Perry, Jo, Steve Palmer, Anastasia Gabriel, and Alan Ashworth. "A Short Pseudoautosomal Region in Laboratory Mice." Genome Research 11, no. 11 (2001): 1826–32. http://dx.doi.org/10.1101/gr.203001.

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13

Hinch, Anjali G., Nicolas Altemose, Nudrat Noor, Peter Donnelly, and Simon R. Myers. "Recombination in the Human Pseudoautosomal Region PAR1." PLoS Genetics 10, no. 7 (2014): e1004503. http://dx.doi.org/10.1371/journal.pgen.1004503.

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14

Chen, Jin-Feng, Fei Lu, Su-Shing Chen, and Shi-Heng Tao. "Significant positive correlation between the recombination rate and GC content in the human pseudoautosomal region." Genome 49, no. 5 (2006): 413–19. http://dx.doi.org/10.1139/g05-124.

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This paper establishes that recombination drives the evolution of GC content in a significant way. Because the human P-arm pseudoautosomal region (PAR1) has been shown to have a high recombination rate, at least 20-fold more frequent than the genomic average of ~1 cM/Mb, this region provides an ideal system to study the role of recombination in the evolution of base composition. Nine non-coding regions of PAR1 are analyzed in this study. We have observed a highly significant positive correlation between the recombination rate and GC content (ρ = 0.837, p ≤ 0.005). Five regions that lie in the distal part of PAR1 are shown to be significantly higher than genomic average divergence. By comparing the intra- and inter-specific AT→GC – GC→AT ratios, we have detected no fixation bias toward GC alleles except for L254915, which has excessive AT→GC changes in the human lineage. Thus, we conclude that the high GC content of the PAR1 genes better fits the biased gene conversion (BGC) model.Key words: pseudoautosomal region, GC content, base composition, evolution, recombination.

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15

Di Stilio, Verónica S., Richard V. Kesseli, and David L. Mulcahy. "A Pseudoautosomal Random Amplified Polymorphic DNA Marker for the Sex Chromosomes of Silene dioica." Genetics 149, no. 4 (1998): 2057–62. http://dx.doi.org/10.1093/genetics/149.4.2057.

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Abstract The segregation pattern of an 810-bp random amplified polymorphic DNA (RAPD) band in the F1 and backcross generations of a Silene dioica (L.) Clairv. family provides evidence that this molecular marker is located in the pseudoautosomal region (PAR) of the X and Y chromosomes. The marker was found through a combination of bulked segregant analysis (BSA) and RAPD techniques. Recombination rates between this pseudoautosomal marker and the differentiating portion of the Y chromosome are 15% in both generations. Alternative explanations involving nondisjunction or autosomal inheritance are presented and discussed. Chromosome counts provide evidence against the nondisjunction hypothesis, and probability calculations argue against the possibility of autosomal inheritance. This constitutes the first report of a pseudoautosomal DNA marker for plant sex chromosomes.

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16

Gorwood, Ph, M. Leboyer, T. D'Amato, et al. "Evidence for a Pseudoautosomal Locus for Schizophrenia." British Journal of Psychiatry 161, no. 1 (1992): 55–58. http://dx.doi.org/10.1192/bjp.161.1.55.

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A locus for schizophrenia within the pseudoautosomal region of chromosomes X and Y has been suggested by Crow on the basis of epidemiological data. The present report replicates this finding in a sample of 38 French multiply affected families with schizophrenia. Sibship and pairwise analysis, with or without weighted-pair correction, with three different systems of family classifications, showed there to be an excess of same-sex pairs in paternally derived sibships, as predicted by the pseudoautosomal hypothesis.

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17

Rouyer, F., M. C. Simmler, G. Vergnaud, et al. "The Pseudoautosomal Region of the Human Sex Chromosomes." Cold Spring Harbor Symposia on Quantitative Biology 51 (January 1, 1986): 221–28. http://dx.doi.org/10.1101/sqb.1986.051.01.027.

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18

Brown, W. R. "A physical map of the human pseudoautosomal region." EMBO Journal 7, no. 8 (1988): 2377–85. http://dx.doi.org/10.1002/j.1460-2075.1988.tb03082.x.

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19

Carracelas, Beatriz, Elly A. Navajas, Gabriel Ciappesoni, and Ignacio Aguilar. "Identification of the pseudoautosomal region of the X chromosome in sheep and sex prediction using the ARS-UI_Ramb_v2.0 genome assembly." Agrociencia Uruguay 29 (June 13, 2025): e1587. https://doi.org/10.31285/agro.29.1587.

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Sex determination through genotyping is an efficient tool for verifying recorded sex in sheep. Since males possess only one X chromosome, heterozygous genotypes should not be present in the non-pseudoautosomal region (nPAR) of the X chromosome. Therefore, determining the boundaries of the pseudoautosomal region (PAB) is necessary for a reliable sex prediction. Although it is recommended to use SNPs from both the X and Y chromosomes, the SNP chip we used did not contain Y chromosome markers. This study aimed to determine the pseudoautosomal region (PAR) on the X chromosome in sheep using the ARS-UI_Ramb_v2.0 genome assembly and test a method for sex prediction based solely on X chromosome SNPs. The training dataset was composed of 210 sheep from various breeds and crossbreeds, genotyped with the Ovine Infinium® HD SNP BeadChip to determine the PAR region. A validation dataset of 229 sheep was used to assess the accuracy of sex determination using the OvineSNP50 BeadChip. After quality control, the PAR region was found to span from 0 to 7.24 Mb and was identified by SNPs that exhibited high heterozygosity rates in males. The proposed approach, that uses only X chromosome SNPs, achieved a sex prediction accuracy of 94% with precision rates of 99% for males and 89% for females. This study showed that it is possible to predict sex in sheep using only X chromosome nPAR SNPs. This is the first study that has used this approach specifically using the ARS-UI_Ramb_v2.0 genome assembly.

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20

D'Amato, T., D. Campion, Ph Gorwood, et al. "Evidence for a Pseudoautosomal Locus for Schizophrenia." British Journal of Psychiatry 161, no. 1 (1992): 59–62. http://dx.doi.org/10.1192/bjp.161.1.59.

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Because of an association between sexual aneuploidies and schizophrenia, and because schizophrenic siblings have been found to be more often of the same than of the opposite sex, the susceptibility locus for schizophrenia is thought to lie within the pseudoautosomal region of the sex chromosomes. We analysed 33 sibships comprising 18 pairs, 13 trios, and 2 quartets of affected siblings, and found support for non-random segregation of alleles at the DXYS14 locus in affected siblings. These findings are consistent with the pseudoautosomal hypothesis for schizophrenia and favour a genetic linkage between DXYS 14 and the disease.

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21

Helena Mangs, A., and Brian Morris. "The Human Pseudoautosomal Region (PAR): Origin, Function and Future." Current Genomics 8, no. 2 (2007): 129–36. http://dx.doi.org/10.2174/138920207780368141.

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22

Mensah, Martin A., Matthew S. Hestand, Maarten H. D. Larmuseau, et al. "Pseudoautosomal Region 1 Length Polymorphism in the Human Population." PLoS Genetics 10, no. 11 (2014): e1004578. http://dx.doi.org/10.1371/journal.pgen.1004578.

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23

Christofidou, Paraskevi, Christopher P. Nelson, Matthew Denniff, et al. "PSeudoautosomal region 1 and predisposition to coronary artery disease." Atherosclerosis 263 (August 2017): e84. http://dx.doi.org/10.1016/j.atherosclerosis.2017.06.273.

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24

Henke, A., and G. Rappold. "PA2.1 detects a Taql polymorphism in the pseudoautosomal region." Human Molecular Genetics 2, no. 3 (1993): 339. http://dx.doi.org/10.1093/hmg/2.3.339.

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25

Klink, A., M. Wapenaar, G. J. B. van Ommen, and G. Rappold. "AK1 detects a VNTR locus in the pseudoautosomal region." Human Molecular Genetics 2, no. 3 (1993): 339. http://dx.doi.org/10.1093/hmg/2.3.339-a.

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26

Kovacs, G., K. Tory, and H. Kung. "14 Pseudoautosomal region: A locus of tumor suppressor gene?" Cancer Genetics and Cytogenetics 59, no. 1 (1992): 104. http://dx.doi.org/10.1016/0165-4608(92)90184-a.

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27

RIED, KARIN, ANNELYSE MERTZ, RAMAIAH NAGARAJA, et al. "Characterization of a YAC Contig Spanning the Pseudoautosomal Region." Genomics 29, no. 3 (1995): 787–92. http://dx.doi.org/10.1006/geno.1995.9933.

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28

Parsian, Abbas, and Richard D. Todd. "Bipolar disorder and the pseudoautosomal region: An association study." American Journal of Medical Genetics 54, no. 1 (1994): 5–7. http://dx.doi.org/10.1002/ajmg.1320540103.

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29

Bishop, C. E., C. Roberts, J. L. Michot, et al. "The use of specific DNA probes to analyse the Sxr mutation in the mouse." Development 101, Supplement (1987): 167–75. http://dx.doi.org/10.1242/dev.101.supplement.167.

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The mouse Y chromosome plays a fundamental role in the control of primary sex determination and fertility. Both genetic and molecular biological evidence has shown that much of the necessary information is contained in a minute piece of the Y (the Sxr region) which has arisen by a duplication of the pericentric region of the normal Y and the transposition of one copy to the distal pseudoautosomal region. The present article describes the isolation of random Y-chromosome probes and their use to investigate this Sxr region at the molecular level. Total mouse Y-chromosome libraries were constructed from flowsorted material and a Sxr regional library after specific microdissection and cloning. Transcription has been detected in the testis using both Sxr-specific and non Sxr-located genomic probes taken from these libraries. In addition, we have been able to confirm the presence of an active steroid sulphatase gene on the mouse Y. This gene is located in the distal portion of the pseudoautosomal region and is tightly linked to Sxr. Finally, using an Sxr-specific probe we can define multiple Y-chromosome haplotypes in the mouse showing that the region is evolving very rapidly.

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30

Dumont, Beth L. "Meiotic Consequences of Genetic Divergence Across the Murine Pseudoautosomal Region." Genetics 205, no. 3 (2017): 1089–100. http://dx.doi.org/10.1534/genetics.116.189092.

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31

Acquaviva, Laurent, Michiel Boekhout, Mehmet E. Karasu, et al. "Ensuring meiotic DNA break formation in the mouse pseudoautosomal region." Nature 582, no. 7812 (2020): 426–31. http://dx.doi.org/10.1038/s41586-020-2327-4.

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32

Raudsepp, T., P. J. Das, F. Avila, and B. P. Chowdhary. "The Pseudoautosomal Region and Sex Chromosome Aneuploidies in Domestic Species." Sexual Development 6, no. 1-3 (2012): 72–83. http://dx.doi.org/10.1159/000330627.

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33

Martin, Renée, Qinghua Shi, and Leigh Field. "Recombination in the pseudoautosomal region in a 47,XYY male." Human Genetics 109, no. 2 (2001): 143–45. http://dx.doi.org/10.1007/s004390100566.

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34

Pritchard, C., and P. N. Goodfellow. "The pseudoautosomal region and telomeres: the beginning of the end?" Trends in Genetics 1 (January 1985): 289–90. http://dx.doi.org/10.1016/0168-9525(85)90110-6.

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35

Fukami, Maki, Yasuko Fujisawa, Hiroyuki Ono, Tomoko Jinno, and Tsutomu Ogata. "Human Spermatogenesis Tolerates Massive Size Reduction of the Pseudoautosomal Region." Genome Biology and Evolution 12, no. 11 (2020): 1961–64. http://dx.doi.org/10.1093/gbe/evaa168.

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Abstract Mammalian male meiosis requires homologous recombination between the X and Y chromosomes. In humans, such recombination occurs exclusively in the short arm pseudoautosomal region (PAR1) of 2.699 Mb in size. Although it is known that complete deletion of PAR1 causes spermatogenic arrest, no studies have addressed to what extent male meiosis tolerates PAR1 size reduction. Here, we report two families in which PAR1 partial deletions were transmitted from fathers to their offspring. Cytogenetic analyses revealed that a ∼400-kb segment at the centromeric end of PAR1, which accounts for only 14.8% of normal PAR1 and 0.26% and 0.68% of the X and Y chromosomes, respectively, is sufficient to mediate sex chromosomal recombination during spermatogenesis. These results highlight the extreme recombinogenic activity of human PAR1. Our data, in conjunction with previous findings from animal studies, indicate that the minimal size requirement of mammalian PARs to maintain male fertility is fairly small.

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Otto, Sarah P., John R. Pannell, Catherine L. Peichel, et al. "About PAR: The distinct evolutionary dynamics of the pseudoautosomal region." Trends in Genetics 27, no. 9 (2011): 358–67. http://dx.doi.org/10.1016/j.tig.2011.05.001.

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37

Yen, C. "Characterization of aMus spretusYAC That Maps to the Pseudoautosomal Region." Genomics 39, no. 1 (1997): 19–29. http://dx.doi.org/10.1006/geno.1996.4462.

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38

Kremer, E., E. Baker, RJ D'Andrea, et al. "A cytokine receptor gene cluster in the X-Y pseudoautosomal region?" Blood 82, no. 1 (1993): 22–28. http://dx.doi.org/10.1182/blood.v82.1.22.bloodjournal82122.

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The receptors for interleukin-3 (IL-3), IL-5, and granulocyte- macrophage colony-stimulating factor (GM-CSF) are heterodimers comprised of ligand specific alpha chains and a common beta chain. The genes encoding the IL-5 receptor alpha chain and the common beta chain reside on chromosome 3 and 22 respectively, while the GM-CSF receptor alpha chain gene (CSF2RA) has been mapped to the pseudoautosomal region (PAR) of the sex chromosomes, which is a 2.6-Mb stretch of homologous sequence at the tips of the short arms within which a single obligatory recombination occurs during male meiosis. We have mapped the gene encoding the IL-3 receptor alpha chain (IL3RA) to the sex chromosomes by polymerase chain reaction (PCR) analysis of human-mouse or human- chinese hamster cell hybrids, and to Yp13.3 and Xp22.3 using fluorescence in situ hybridization. To explore the possibility that IL3RA is located within the pseudoautosomal region we screened the Centre d'Etude du Polymorphisme Humain (CEPH) pedigrees for an informative-restriction fragment-length polymorphism (RFLP) that showed male meiotic recombination. Two informative CEPH pedigrees were identified that displayed this phenomenon, confirming the psuedoautosomal location of IL3RA. Using long-range restriction mapping we have found that IL3RA maps to the same 190-kb restriction fragment as CSF2RA, suggesting that a cytokine receptor gene cluster may reside in the PAR.

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39

Krasovec, Marc, Yu Zhang, and Dmitry A. Filatov. "The Location of the Pseudoautosomal Boundary in Silene latifolia." Genes 11, no. 6 (2020): 610. http://dx.doi.org/10.3390/genes11060610.

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Y-chromosomes contain a non-recombining region (NRY), and in many organisms it was shown that the NRY expanded over time. How and why the NRY expands remains unclear. Young sex chromosomes, where NRY expansion occurred recently or is on-going, offer an opportunity to study the causes of this process. Here, we used the plant Silene latifolia, where sex chromosomes evolved ~11 million years ago, to study the location of the boundary between the NRY and the recombining pseudoautosomal region (PAR). The previous work devoted to the NRY/PAR boundary in S. latifolia was based on a handful of genes with locations approximately known from the genetic map. Here, we report the analysis of 86 pseudoautosomal and sex-linked genes adjacent to the S. latifolia NRY/PAR boundary to establish the location of the boundary more precisely. We take advantage of the dense genetic map and polymorphism data from wild populations to identify 20 partially sex-linked genes located in the “fuzzy boundary”, that rarely recombines in male meiosis. Genes proximal to this fuzzy boundary show no evidence of recombination in males, while the genes distal to this partially-sex-linked region are actively recombining in males. Our results provide a more accurate location for the PAR boundary in S. latifolia, which will help to elucidate the causes of PAR boundary shifts leading to NRY expansion over time.

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40

Turner, James M. A., Paul S. Burgoyne, and Prim B. Singh. "M31 and macroH2A1.2 colocalise at the pseudoautosomal region during mouse meiosis." Journal of Cell Science 114, no. 18 (2001): 3367–75. http://dx.doi.org/10.1242/jcs.114.18.3367.

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Progression through meiotic prophase is associated with dramatic changes in chromosome condensation. Two proteins that have been implicated in effecting these changes are the mammalian HP1-like protein M31 (HP1β or MOD1) and the unusual core histone macroH2A1.2. Previous analyses of M31 and macroH2A1.2 localisation in mouse testis sections have indicated that both proteins are components of meiotic centromeric heterochromatin and of the sex body, the transcriptionally inactive domain of the X and Y chromosomes. This second observation has raised the possibility that these proteins co-operate in meiotic sex chromosome inactivation. In order to investigate the roles of M31 and macroH2A1.2 in meiosis in greater detail, we have examined their localisation patterns in surface-spread meiocytes from male and female mice. Using this approach, we report that, in addition to their previous described staining patterns, both proteins localise to a focus within the portion of the pseudoautosomal region (PAR) that contains the steroid sulphatase (Sts) gene. In light of the timing of its appearance and of its behaviour in sex-chromosomally variant mice, we suggest a role for this heterochromatin focus in preventing complete desynapsis of the terminally associated X and Y chromosomes prior to anaphase I.

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41

Weng, Stephanie, Samuel A. Stoner, and Dong-Er Zhang. "Sex chromosome loss and the pseudoautosomal region genes in hematological malignancies." Oncotarget 7, no. 44 (2016): 72356–72. http://dx.doi.org/10.18632/oncotarget.12050.

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Kauppi, L., M. Barchi, F. Baudat, P. J. Romanienko, S. Keeney, and M. Jasin. "Distinct Properties of the XY Pseudoautosomal Region Crucial for Male Meiosis." Science 331, no. 6019 (2011): 916–20. http://dx.doi.org/10.1126/science.1195774.

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Cooke, H. J., and B. A. Smith. "Variability at the Telomeres of the Human X/Y Pseudoautosomal Region." Cold Spring Harbor Symposia on Quantitative Biology 51 (January 1, 1986): 213–19. http://dx.doi.org/10.1101/sqb.1986.051.01.026.

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Wapenaar, M. C., P. L. Pearson, and G. J. B. van Ommen. "P9 (DXYS75) detects a VNTR-type RFLP in the pseudoautosomal region." Nucleic Acids Research 18, no. 2 (1990): 384. http://dx.doi.org/10.1093/nar/18.2.384-a.

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Wapenaar, M. C., P. L. Pearson, and G. J. B. van Ommen. "P9 (DXYS75) detects a VNTR-type RFLP in the pseudoautosomal region." Nucleic Acids Research 18, no. 2 (1990): 384. http://dx.doi.org/10.1093/nar/18.2.384-b.

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Filatov, D. A. "A Gradient of Silent Substitution Rate in the Human Pseudoautosomal Region." Molecular Biology and Evolution 21, no. 2 (2003): 410–17. http://dx.doi.org/10.1093/molbev/msh032.

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Das, P. J., D. K. Mishra, S. Ghosh, et al. "Comparative Organization and Gene Expression Profiles of the Porcine Pseudoautosomal Region." Cytogenetic and Genome Research 141, no. 1 (2013): 26–36. http://dx.doi.org/10.1159/000351310.

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Eicher, E. M., B. K. Lee, L. L. Washburn, D. W. Hale, and T. R. King. "Telomere-related markers for the pseudoautosomal region of the mouse genome." Proceedings of the National Academy of Sciences 89, no. 6 (1992): 2160–64. http://dx.doi.org/10.1073/pnas.89.6.2160.

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Wang, Zhe Wu. "No Evidence of a Schizophrenia Locus in a Second Pseudoautosomal Region." Archives of General Psychiatry 51, no. 5 (1994): 427. http://dx.doi.org/10.1001/archpsyc.1994.03950050087010.

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Maxeiner, Stephan, Lukas Walter, Samuel Luca Zeitz, and Gabriela Krasteva-Christ. "Comprehensive Analysis of Rodent-Specific Probasin Gene Reveals Its Evolutionary Origin in Pseudoautosomal Region and Provides Novel Insights into Rodent Phylogeny." Biology 14, no. 3 (2025): 239. https://doi.org/10.3390/biology14030239.

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Probasin protein was originally identified as a basic protein present in rat prostate epithelium. So far, its physiological role, its origin, and its presence in other species including humans remain largely elusive. With the ever-growing number of genome assemblies, thus far, probasin genes (Pbsn/PBSN) have only been predicted in a subset of rodent genomes. In this study, we addressed the phylogeny of probasin genes and found them to be exclusively present in members of the superfamily Muroidea. It first emerged in the so-called pseudoautosomal region, a subtelomeric gene cluster of both mammalian sex chromosomes. During evolution of the Muroidea lineages, probasin recombined to the X-specific region of the X-chromosome in mice and hamster species. This event likely saved the gene from events that other pseudoautosomal genes suffered, namely displaying an increase in G and C nucleotide composition or accumulation of repetitive elements. We observed changes to its coding region, e.g., sequence insertions in exon 6, which challenge the current understanding of rodent phylogeny, in particular regarding the evolutionary history of tribe formation within the subfamily Murinae. Analyzing the evolution of probasin genes in Muroidea allows fostering understanding of phylogenetic relationships in one of the largest groups of mammalian species.

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