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PMID: 11691846 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

A short pseudoautosomal region in laboratory mice.

Genome research ·Vol. 11 ·No. 11 ·2001-11-00 ·Pages 1826-32

Perry J, Palmer S, Gabriel A, Ashworth A

Abstract

The pseudoautosomal region (PAR) of mammalian sex chromosomes is a small region of sequence identity that is the site of an obligatory pairing and recombination event between the X and Y chromosomes during male meiosis. During female meiosis, X chromosomes can pair and recombine along their entire length; recombination in the PAR is therefore approximately 10x greater in male meiosis compared with female meiosis. A consequence of the presence of the PAR in two copies in males and females is that genes in the region escape the process of X-inactivation. Although the structure and gene content of the human PAR at Xq/Yq is well understood, the mouse PAR, which appears to be of independent evolutionary origin, is poorly characterized. Here we describe a yeast artificial chromosome (YAC) contig covering the distal part of the mouse X chromosome, which we have used to define the pseudoautosomal boundary, that is, the point of divergence of X-specific and X-Y-identical sequences. In addition, we have investigated the size of the mouse PAR by integrating a unique restriction endonuclease recognition site just proximal to the pseudoautosomal boundary by homologous recombination. Restriction digestion of this modified DNA and pulsed field gel electrophoresis reveal that the PAR in these cells is approximately 700 kb. Thus, the mouse PAR, although small in size, has retained essential sex chromosome pairing functions despite its rapid rate of evolution.

MeSH Terms
Animals Base Sequence Cells, Cultured Female Male Mice Mice, Inbred C57BL Mice, Inbred Strains Molecular Sequence Data Mutagenesis, Site-Directed/genetics Physical Chromosome Mapping/methods Pseudogenes/genetics Sequence Alignment Sequence Analysis, DNA/methods X Chromosome/genetics Y Chromosome/genetics
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Perry J
The Breakthrough Toby Robins Breast Cancer Research Centre, Institute of Cancer Research, London SW3 6JB, UK.
Palmer S
Gabriel A
Ashworth A
References (44)
44 references, click to expand
  1. The IL-9 receptor gene, located in the Xq/Yq pseudoautosomal region, has an autosomal origin, escapes X inactivation and is expressed from the Y.
    Hum Mol Genet. 1997 Jan;6(1):1-8 PMID: 9002663
  2. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome.
    Nat Genet. 1997 May;16(1):54-63 PMID: 9140395
  3. PHOG, a candidate gene for involvement in the short stature of Turner syndrome.
    Hum Mol Genet. 1997 Aug;6(8):1341-7 PMID: 9259282
  4. Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region.
    Hum Mol Genet. 2000 Feb 12;9(3):395-401 PMID: 10655549
  5. Genetic homology and crossing over in the X and Y chromosomes of Mammals.
    Hum Genet. 1982;61(2):85-90 PMID: 7129448
  6. A gene spans the pseudoautosomal boundary in mice.
    Proc Natl Acad Sci U S A. 1997 Oct 28;94(22):12030-5 PMID: 9342357
  7. Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22.
    Nat Genet. 1997 Nov;17(3):285-91 PMID: 9354791
  8. Differential expression pattern of XqPAR-linked genes SYBL1 and IL9R correlates with the structure and evolution of the region.
    Hum Mol Genet. 1997 Oct;6(11):1917-23 PMID: 9302271
  9. The human FXY gene is located within Xp22.3: implications for evolution of the mammalian X chromosome.
    Hum Mol Genet. 1998 Feb;7(2):299-305 PMID: 9425238
  10. Gene duplications as a recurrent theme in the evolution of the human pseudoautosomal region 1: isolation of the gene ASMTL.
    Hum Mol Genet. 1998 Oct;7(11):1771-8 PMID: 9736779
  11. The origin and evolution of the pseudoautosomal regions of human sex chromosomes.
    Hum Mol Genet. 1998 Dec;7(13):1991-6 PMID: 9817914
  12. Evolutionary rate of a gene affected by chromosomal position.
    Curr Biol. 1999 Sep 9;9(17):987-9 PMID: 10508587
  13. Mitochondrial DNA evolution in mice.
    Genetics. 1983 Nov;105(3):681-721 PMID: 6315529
  14. Genomic sequencing.
    Proc Natl Acad Sci U S A. 1984 Apr;81(7):1991-5 PMID: 6326095
  15. The cell surface antigen locus, MIC2X, escapes X-inactivation.
    Am J Hum Genet. 1984 Jul;36(4):777-82 PMID: 6540985
  16. An intron-encoded protein is active in a gene conversion process that spreads an intron into a mitochondrial gene.
    Cell. 1985 Jun;41(2):383-94 PMID: 3886163
  17. DNA sequence for cloned cDNA for murine amelogenin reveal the amino acid sequence for enamel-specific protein.
    Biochem Biophys Res Commun. 1985 Jun 28;129(3):812-8 PMID: 4015654
  18. High frequency of unequal recombination in pseudoautosomal region shown by proviral insertion in transgenic mouse.
    Nature. 1986 Dec 18-31;324(6098):682-5 PMID: 3025741
  19. Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange.
    Cell. 1987 May 22;49(4):443-54 PMID: 3032454
  20. Linkage of the steroid sulfatase gene to the sex-reversed mutation in the mouse.
    Genetics. 1987 Jul;116(3):465-8 PMID: 3475232
  21. High rate of recombination and double crossovers in the mouse pseudoautosomal region during male meiosis.
    Proc Natl Acad Sci U S A. 1987 Oct;84(20):7218-20 PMID: 3478692
  22. The pseudoautosomal boundary in man is defined by an Alu repeat sequence inserted on the Y chromosome.
    Nature. 1989 Jan 5;337(6202):81-4 PMID: 2909893
  23. The mammalian pseudoautosomal region.
    Trends Genet. 1989 Dec;5(12):406-10 PMID: 2696184
  24. Purification and characterization of the in vitro activity of I-Sce I, a novel and highly specific endonuclease encoded by a group I intron.
    Nucleic Acids Res. 1990 Mar 25;18(6):1407-13 PMID: 2183191
  25. Structure and chromosomal mapping of a highly polymorphic repetitive DNA sequence from the pseudoautosomal region of the mouse sex chromosomes.
    Cytogenet Cell Genet. 1990;53(2-3):129-33 PMID: 1973377
  26. Telomere-related markers for the pseudoautosomal region of the mouse genome.
    Proc Natl Acad Sci U S A. 1992 Mar 15;89(6):2160-4 PMID: 1549575
  27. Fertility in mice requires X-Y pairing and a Y-chromosomal "spermiogenesis" gene mapping to the long arm.
    Cell. 1992 Oct 30;71(3):391-8 PMID: 1423603
  28. Identification of a second pseudoautosomal region near the Xq and Yq telomeres.
    Science. 1992 Dec 11;258(5089):1784-7 PMID: 1465614
  29. The human pseudoautosomal GM-CSF receptor alpha subunit gene is autosomal in mouse.
    Nat Genet. 1992 Aug;1(5):333-6 PMID: 1363815
  30. A human pseudoautosomal gene encodes the ANT3 ADP/ATP translocase and escapes X-inactivation.
    Genomics. 1993 Apr;16(1):26-33 PMID: 8486369
  31. Structure and expression of the human pseudoautosomal gene XE7.
    Hum Mol Genet. 1992 Dec;1(9):691-6 PMID: 1302606
  32. The pseudoautosomal regions of the human sex chromosomes.
    Hum Genet. 1993 Oct;92(4):315-24 PMID: 8225310
  33. Towards high resolution maps of the mouse and human genomes--a facility for ordering markers to 0.1 cM resolution. European Backcross Collaborative Group.
    Hum Mol Genet. 1994 Apr;3(4):621-7 PMID: 8069308
  34. The sequence organization of the long arm pseudoautosomal region of the human sex chromosomes.
    Hum Mol Genet. 1994 May;3(5):771-8 PMID: 8081364
  35. The murine interleukin-3 receptor alpha subunit gene: chromosomal localization, genomic structure, and promoter function.
    Blood. 1995 Mar 1;85(5):1246-53 PMID: 7858255
  36. Different chromosomal localization of the Clcn4 gene in Mus spretus and C57BL/6J mice.
    Nat Genet. 1995 Aug;10(4):466-71 PMID: 7670496
  37. A contravention of Ohno's law in mice.
    Nat Genet. 1995 Aug;10(4):472-6 PMID: 7670497
  38. The evolution of mammalian sex chromosomes and the origin of sex determining genes.
    Philos Trans R Soc Lond B Biol Sci. 1995 Nov 29;350(1333):305-11; discussion 311-2 PMID: 8570696
  39. Structural variation of the pseudoautosomal region between and within inbred mouse strains.
    Proc Natl Acad Sci U S A. 1996 Jan 9;93(1):171-5 PMID: 8552598
  40. A comprehensive genetic map of the mouse genome.
    Nature. 1996 Mar 14;380(6570):149-52 PMID: 8600386
  41. High frequency de novo alterations in the long-range genomic structure of the mouse pseudoautosomal region.
    Nat Genet. 1996 May;13(1):78-80 PMID: 8673108
  42. Cloning and expression of the mouse pseudoautosomal steroid sulphatase gene (Sts).
    Nat Genet. 1996 May;13(1):83-6 PMID: 8673109
  43. Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS).
    Genomics. 1996 Jun 1;34(2):166-72 PMID: 8661044
  44. Rapid evolution of human pseudoautosomal genes and their mouse homologs.
    Mamm Genome. 1996 Jan;7(1):25-30 PMID: 8903724
Article Info
Journal
Genome research
Abbr.
Genome Res
ISSN
1088-9051
DOI
10.1101/gr.203001
Published
2001-11-00
Pages
1826-32
Language
English
Region
United States
NLM ID
9518021
PMCID
PMC311143
Subset
IM
External Links
PubMed source DOI: 10.1101/gr.203001 PMC Full Text View journal details
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