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Pseudoautosomal region

pseudoautosomal region, pseudoautosomal region definition
The pseudoautosomal regions, PAR1, PAR2, are homologous sequences of nucleotides on the X and Y chromosomes Genetic recombination occurring during sexual reproduction is known to be limited only to the pseudoautosomal regions PAR1 and PAR2 of the X and Y chromosomes

The pseudoautosomal regions get their name because any genes within them so far at least 29 have been found are inherited just like any autosomal genes PAR1 comprises 26 Mbp of the short-arm tips of both X and Y chromosomes in humans and great apes X and Y are 155 Mbp and 59 Mbp in total PAR2 is at the tips of the long arms, spanning 320 kbp


  • 1 Location
  • 2 Inheritance and function
  • 3 Genes
    • 31 PAR1
    • 32 PAR2
  • 4 Pathology
  • 5 See also
  • 6 References
  • 7 External links


Pseudoautosomal regions are at both termini of the sex chromosomes

The locations of the PARs within GRCh38 are:

Name Chromosome Basepair start Basepair stop Band
PAR1 X 7004100010000000000♠10,001 7006278147900000000♠2,781,479 Xp22
Y 7004100010000000000♠10,001 7006278147900000000♠2,781,479 Yp11
PAR2 X 7008155701383000000♠155,701,383 7008156030895000000♠156,030,895 Xq28
Y 7007568879030000000♠56,887,903 7007572174150000000♠57,217,415 Yq12

The locations of the PARs within GRCh37 are:

Name Chromosome Basepair start Basepair stop
PAR1 X 7004600010000000000♠60,001 7006269952000000000♠2,699,520
Y 7004100010000000000♠10,001 7006264952000000000♠2,649,520
PAR2 X 7008154931044000000♠154,931,044 7008155260560000000♠155,260,560
Y 7007590340500000000♠59,034,050 7007593635660000000♠59,363,566

Inheritance and function

Normal male mammals have two copies of these genes: one in the pseudoautosomal region of their Y chromosome, the other in the corresponding portion of their X chromosome Normal females also possess two copies of pseudoautosomal genes, as each of their two X chromosomes contains a pseudoautosomal region Crossing over between the X and Y chromosomes is normally restricted to the pseudoautosomal regions; thus, pseudoautosomal genes exhibit an autosomal, rather than sex-linked, pattern of inheritance So, females can inherit an allele originally present on the Y chromosome of their father

The function of these pseudoautosomal regions is that they allow the X and Y chromosomes to pair and properly segregate during meiosis in males


PAR1 contains 16 genes, with PLCXD1 as the furthermost PAR1 gene at the distal telomeric end and XG at the boundary of PAR1 at the centromeric end PAR2 contains 3 genes, with SPRY3 at the centromeric boundary and IL9R at the distal telomeric end

Pseudoautosomal genes are found in two different locations: PAR1 and PAR2 These are believed to have evolved independently


  • pseudoautosomal PAR1
    • AKAP17A
    • ASMT
    • ASMTL
    • CD99
    • CRLF2
    • CSF2RA
    • DHRSX
    • GTPBP6
    • IL3RA
    • P2RY8
    • PLCXD1
    • PPP2R3B
    • SHOX
    • SLC25A6
    • XG, which straddles the PAR1 region boundary
    • ZBED1

in mice, some PAR1 genes have transferred to autosomes


  • pseudoautosomal PAR2
    • IL9R
    • SPRY3
    • VAMP7
    • CXYorf1, which is now mapped to the pseudogene WASH6P, but is of interest due to its proximity to the telomere


Pairing synapsis of the X and Y chromosomes and crossing over recombination between their pseudoautosomal regions appear to be necessary for the normal progression of male meiosis Thus, those cells in which X-Y recombination does not occur will fail to complete meiosis Structural and/or genetic dissimilarity due to hybridization or mutation between the pseudoautosomal regions of the X and Y chromosomes can disrupt pairing and recombination, and consequently cause male infertility

The SHOX gene in the PAR1 region is the gene most commonly associated with and well understood with regards to disorders in humans, but all pseudoautosomal genes escape X-inactivation and are therefore candidates for having gene dosage effects in sex chromosome aneuploidy conditions 45,X, 47,XXX, 47,XXY, 47,XYY, etc

Deletions have also been associated with Léri-Weill dyschondrosteosis and Madelung's deformity

See also

  • Interleukin-3 receptor


  1. ^ Mangs, Helena; Morris BJ 2007 "The Human Pseudoautosomal Region PAR: Origin, Function and Future" Current Genomics 8 2: 129–136 doi:102174/138920207780368141 PMC 2435358  PMID 18660847 
  2. ^ Blaschke RJ, Rappold G 2006 "The pseudoautosomal regions, SHOX and disease" Curr Opin Genet Dev 16 3: 233–9 doi:101016/jgde200604004 PMID 16650979 
  3. ^ Helena Mangs A, Morris BJ April 2007 "The Human Pseudoautosomal Region PAR: Origin, Function and Future" Curr Genomics 8 2: 129–36 doi:102174/138920207780368141 PMC 2435358  PMID 18660847 
  4. ^ Genome Reference Consortium 2017-01-06 "Human genome overview GRCh38p10" Retrieved 2017-05-10 
  5. ^ "Pseudoautosomal regions Gene Family" HUGO Gene Nomenclature Committee Retrieved 2017-05-11 
  6. ^ a b Ciccodicola A, D'Esposito M, Esposito T, et al February 2000 "Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region" Hum Mol Genet 9 3: 395–401 doi:101093/hmg/93395 PMID 10655549 
  7. ^ Weng S, Stoner SA, Zhang DE 2016 Sex chromosome loss and the pseudoautosomal region genes in hematological malignancies Oncotarget 7 44:72356-72372 DOI:1018632/oncotarget12050 PMID: 27655702
  8. ^ Charchar FJ, Svartman M, El-Mogharbel N, et al February 2003 "Complex events in the evolution of the human pseudoautosomal region 2 PAR2" Genome Res 13 2: 281–6 doi:101101/gr390503 PMC 420362  PMID 12566406 
  9. ^ "Pseudoautosomal region 1 PAR1 Gene Family" HUGO Gene Nomenclature Committee Retrieved 2017-05-12 
  10. ^ Levy MA, Fernandes AD, Tremblay DC, Seah C, Bérubé NG 2008 "The SWI/SNF protein ATRX co-regulates pseudoautosomal genes that have translocated to autosomes in the mouse genome" BMC Genomics 9: 468 doi:101186/1471-2164-9-468 PMC 2577121  PMID 18842153 
  11. ^ "Pseudoautosomal region 2 PAR2 Gene Family" HUGO Gene Nomenclature Committee Retrieved 2017-05-12 
  12. ^ "WASH6P" Retrieved 2009-01-05 
  13. ^ Eichner, EM February 1991 "The mouse Y chromosome involves a complex rearrangement including interstitial positioning of the Y-pseudoautosomal region" Cytogenetics and Cell Genetics 57 4: 221–230 doi:101159/000133152 
  14. ^ Blaschke RJ, Rappold G June 2006 "The pseudoautosomal regions, SHOX and disease" Curr Opin Genet Dev 16 3: 233–9 doi:101016/jgde200604004 PMID 16650979 
  15. ^ Benito-Sanz S, Thomas NS, Huber C, et al October 2005 "A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis" Am J Hum Genet 77 4: 533–44 doi:101086/449313 PMC 1275603  PMID 16175500 

External links

  • PABX
  • PABY

pseudoautosomal region, pseudoautosomal region 2, pseudoautosomal region definition, pseudoautosomal region of y, pseudoautosomal region x chromosome, pseudoautosomal regions, pseudoautosomal regions 1 and 2, pseudoautosomal regions inactivated, pseudoautosomal regions on sex chromosomes, pseudoautosomal regions on the sex chromosomes

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