请输入您要查询的百科知识：

　

词条 Pseudoautosomal region
释义

  1. Location

  2. Inheritance and function

  3. Genes

     PAR1  PAR2 

  4. Pathology

  5. See also

  6. References

  7. External links

The pseudoautosomal regions, PAR1, PAR2,[1] are homologous sequences of nucleotides on the X and Y chromosomes.

The pseudoautosomal regions get their name because any genes within them (so far at least 29 have been found)[2] are inherited just like any autosomal genes. PAR1 comprises 2.6 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.[3]

Location

The locations of the PARs within GRCh38 are:[4]

Name Chromosome Basepair start Basepair stop Band[5]
PAR1 X 10001|fmt=commas}}2781479|fmt=commas}} Xp22
Y 10001|fmt=commas}}2781479|fmt=commas}} Yp11
PAR2 X 155701383|fmt=commas}}156030895|fmt=commas}} Xq28
Y 56887903|fmt=commas}}57217415|fmt=commas}} Yq12

The locations of the PARs within GRCh37 are:

Name Chromosome Basepair start Basepair stop
PAR1 X 60001|fmt=commas}}2699520|fmt=commas}}
Y 10001|fmt=commas}}2649520|fmt=commas}}
PAR2 X 154931044|fmt=commas}}155260560|fmt=commas}}
Y 59034050|fmt=commas}}59363566|fmt=commas}}

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.[6]

Genes

Pseudoautosomal genes are found in two different locations: PAR1 and PAR2. These are believed to have evolved independently.[8]

PAR1

  • pseudoautosomal PAR1[9]
    • 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.[10]

PAR2

  • pseudoautosomal PAR2[11]
    • IL9R
    • SPRY3
    • VAMP7, also known as SYBL1
    • CXYorf1, also known as FAM39A and now mapped to the pseudogene WASH6P,[12] but of interest due to its proximity to the telomere.[6]

Pathology

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.[13] 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,[14] 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[15] and Madelung's deformity.

See also

  • Interleukin-3 receptor
  • Interleukin-9 receptor

References

1. ^{{cite journal|last=Mangs|first=Helena|author2=Morris BJ |title=The Human Pseudoautosomal Region (PAR): Origin, Function and Future.|journal=Current Genomics|year=2007|volume=8|issue=2|pmid=18660847|doi=10.2174/138920207780368141|pmc=2435358|pages=129–136}}
2. ^{{cite journal |vauthors=Blaschke RJ, Rappold G | year = 2006 | title = The pseudoautosomal regions, SHOX and disease | url = | journal = Curr Opin Genet Dev | volume = 16 | issue = 3| pages = 233–9 | pmid = 16650979 | doi=10.1016/j.gde.2006.04.004}}
3. ^{{cite journal |vauthors=Helena Mangs A, Morris BJ |title=The Human Pseudoautosomal Region (PAR): Origin, Function and Future |journal=Curr. Genomics |volume=8 |issue=2 |pages=129–36 |date=April 2007 |pmid=18660847 |pmc=2435358 |doi= 10.2174/138920207780368141|url=}}
4. ^{{cite web|url=https://www.ncbi.nlm.nih.gov/projects/genome/assembly/grc/human/|title=Human genome overview GRCh38.p10|author=Genome Reference Consortium|date=2017-01-06|access-date=2017-05-10}}
5. ^{{cite web | title=Pseudoautosomal regions Gene Family | website=HUGO Gene Nomenclature Committee | url=https://www.genenames.org/cgi-bin/genefamilies/set/714 | accessdate=2017-05-11}}
6. ^1 {{cite journal |vauthors=Ciccodicola A, D'Esposito M, Esposito T, etal |title=Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region |journal=Hum. Mol. Genet. |volume=9 |issue=3 |pages=395–401 |date=February 2000 |pmid=10655549 |doi= 10.1093/hmg/9.3.395|url=http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=10655549}}
7. ^Weng S, Stoner SA, Zhang DE (2016) [https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&retmode=ref&cmd=prlinks&id=27655702 Sex chromosome loss and the pseudoautosomal region genes in hematological malignancies.] Oncotarget 7 (44):72356-72372. [https://dx.doi.org/10.18632/oncotarget.12050 DOI:10.18632/oncotarget.12050] PMID: [https://pubmed.gov/27655702 27655702]
8. ^{{cite journal |vauthors=Charchar FJ, Svartman M, El-Mogharbel N, etal |title=Complex events in the evolution of the human pseudoautosomal region 2 (PAR2) |journal=Genome Res. |volume=13 |issue=2 |pages=281–6 |date=February 2003 |pmid=12566406 |pmc=420362 |doi=10.1101/gr.390503 |url=http://www.genome.org/cgi/pmidlookup?view=long&pmid=12566406}}
9. ^{{cite web | title=Pseudoautosomal region 1 (PAR1) Gene Family | website=HUGO Gene Nomenclature Committee | url=https://www.genenames.org/cgi-bin/genefamilies/set/715 | accessdate=2017-05-12}}
10. ^{{cite journal |vauthors=Levy MA, Fernandes AD, Tremblay DC, Seah C, Bérubé NG |title=The SWI/SNF protein ATRX co-regulates pseudoautosomal genes that have translocated to autosomes in the mouse genome |journal=BMC Genomics |volume=9|pages=468 |year=2008 |pmid=18842153 |pmc=2577121 |doi=10.1186/1471-2164-9-468 |url=http://www.biomedcentral.com/1471-2164/9/468}}
11. ^{{cite web | title=Pseudoautosomal region 2 (PAR2) Gene Family | website=HUGO Gene Nomenclature Committee | url=https://www.genenames.org/cgi-bin/genefamilies/set/716 | accessdate=2017-05-12}}
12. ^{{cite web |url=https://www.genenames.org/data/hgnc_data.php?hgnc_id=31685 |title=WASH6P |format= |website= |accessdate=2009-01-05}}
13. ^{{cite journal|last1=Eichner|first1=E.M.|title=The mouse Y* chromosome involves a complex rearrangement including interstitial positioning of the Y-pseudoautosomal region|journal=Cytogenetics and Cell Genetics|date=February 1991|volume=57|issue=4|pages=221–230|doi=10.1159/000133152|pmid=1743079}}
14. ^{{cite journal |vauthors=Blaschke RJ, Rappold G |title=The pseudoautosomal regions, SHOX and disease |journal=Curr. Opin. Genet. Dev. |volume=16 |issue=3 |pages=233–9 |date=June 2006 |pmid=16650979 |doi=10.1016/j.gde.2006.04.004 |url=http://linkinghub.elsevier.com/retrieve/pii/S0959-437X(06)00065-7}}
15. ^{{cite journal |vauthors=Benito-Sanz S, Thomas NS, Huber C, etal |title=A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis |journal=Am. J. Hum. Genet. |volume=77 |issue=4 |pages=533–44 |date=October 2005 |pmid=16175500 |pmc=1275603 |doi=10.1086/449313 |url=http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)61002-7}}

External links

{{Commons category|Pseudoautosomal region}}
  • {{Gene|PABX}}
  • {{Gene|PABY}}
{{Chromosomes}}

2 : Molecular genetics|Cytogenetics
随便看

　

开放百科全书收录14589846条英语、德语、日语等多语种百科知识，基本涵盖了大多数领域的百科知识，是一部内容自由、开放的电子版国际百科全书。

　

Copyright © 2023 OENC.NET All Rights Reserved
京ICP备2021023879号 更新时间：2024/9/27 5:59:37