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词条 USP9Y
释义

  1. Clinical significance

  2. References

  3. Further reading

{{Infobox_gene}}

Ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila), also known as USP9Y, is an enzyme which in humans is encoded by the USP9Y gene.[1] It is required for sperm production. This enzyme is a member of the peptidase C19 family and is similar to ubiquitin-specific proteases, which cleave the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins.

Clinical significance

Mutations in this gene have been associated with Sertoli cell-only syndrome (SCO) and male infertility.[1]

The USP9Y gene is found on the azoospermia factor (AZF) region on the Y chromosome. Men who have impaired or no sperm production often have a deletion in the AZF region, especially in the USP9Y gene, and it was thought that USP9Y was necessary for sperm production. However, a man and his father with a USP9Y deletion who could produce sperm were recently reported. The corresponding gene is present but inactive in chimpanzees and bonobos.[2][3]

References

1. ^1 {{cite web | title = Entrez Gene: USP9Y ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8287| accessdate = }}
2. ^{{cite journal | vauthors = Luddi A, Margollicci M, Gambera L, Serafini F, Cioni M, De Leo V, Balestri P, Piomboni P | title = Spermatogenesis in a man with complete deletion of USP9Y | journal = N. Engl. J. Med. | volume = 360 | issue = 9 | pages = 881–5 |date=February 2009 | pmid = 19246359 | doi = 10.1056/NEJMoa0806218 | url = }}
3. ^{{cite journal | vauthors = Tyler-Smith C, Krausz C | title = The Will-o'-the-Wisp of Genetics—Hunting for the Azoospermia Factor Gene | journal = N. Engl. J. Med. | volume = 360 | issue = 9 | pages = 925–7 |date=February 2009 | pmid = 19246366 | doi = 10.1056/NEJMe0900301 | url = | pmc = 2700876 }}

Further reading

{{refbegin | 2}}
  • {{cite journal | vauthors=D'Andrea A, Pellman D |title=Deubiquitinating enzymes: a new class of biological regulators |journal=Crit. Rev. Biochem. Mol. Biol. |volume=33 |issue= 5 |pages= 337–52 |year= 1999 |pmid= 9827704 |doi=10.1080/10409239891204251 }}
  • {{cite journal | vauthors=Mesco ER, Timiras PS |title=Tau-ubiquitin protein conjugates in a human cell line |journal=Mech. Ageing Dev. |volume=61 |issue= 1 |pages= 1–9 |year= 1992 |pmid= 1723470 |doi=10.1016/0047-6374(91)90002-H }}
  • {{cite journal |vauthors=Vogt PH, Edelmann A, Kirsch S, etal |title=Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11 |journal=Hum. Mol. Genet. |volume=5 |issue= 7 |pages= 933–43 |year= 1997 |pmid= 8817327 |doi=10.1093/hmg/5.7.933 }}
  • {{cite journal |vauthors=Jones MH, Furlong RA, Burkin H, etal |title=The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2 |journal=Hum. Mol. Genet. |volume=5 |issue= 11 |pages= 1695–701 |year= 1997 |pmid= 8922996 |doi=10.1093/hmg/5.11.1695 }}
  • {{cite journal | vauthors=Lahn BT, Page DC |title=Functional coherence of the human Y chromosome |journal=Science |volume=278 |issue= 5338 |pages= 675–80 |year= 1997 |pmid= 9381176 |doi=10.1126/science.278.5338.675 }}
  • {{cite journal |vauthors=Brown GM, Furlong RA, Sargent CA, etal |title=Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxrb interval of the mouse Y chromosome of the Dffry gene |journal=Hum. Mol. Genet. |volume=7 |issue= 1 |pages= 97–107 |year= 1998 |pmid= 9384609 |doi=10.1093/hmg/7.1.97 }}
  • {{cite journal |title=Toward a complete human genome sequence |journal=Genome Res. |volume=8 |issue= 11 |pages= 1097–108 |year= 1999 |pmid= 9847074 |doi= 10.1101/gr.8.11.1097}}
  • {{cite journal |vauthors=Sun C, Skaletsky H, Birren B, etal |title=An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y |journal=Nat. Genet. |volume=23 |issue= 4 |pages= 429–32 |year= 1999 |pmid= 10581029 |doi= 10.1038/70539 }}
  • {{cite journal | vauthors=Foresta C, Ferlin A, Moro E |title=Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility |journal=Hum. Mol. Genet. |volume=9 |issue= 8 |pages= 1161–9 |year= 2000 |pmid= 10767340 |doi=10.1093/hmg/9.8.1161 }}
  • {{cite journal |vauthors=Friel A, Houghton JA, Glennon M, etal |title=A preliminary report on the implication of RT-PCR detection of DAZ, RBMY1, USP9Y and Protamine-2 mRNA in testicular biopsy samples from azoospermic men |journal=Int. J. Androl. |volume=25 |issue= 1 |pages= 59–64 |year= 2002 |pmid= 11869379 |doi=10.1046/j.1365-2605.2002.00326.x }}
  • {{cite journal |vauthors=Ioulianos A, Sismani C, Fourouclas N, etal |title=A nation-based population screening for azoospermia factor deletions in Greek-Cypriot patients with severe spermatogenic failure and normal fertile controls, using a specific study and experimental design |journal=Int. J. Androl. |volume=25 |issue= 3 |pages= 153–8 |year= 2002 |pmid= 12031043 |doi=10.1046/j.1365-2605.2002.00340.x }}
  • {{cite journal | vauthors=Dada R, Gupta NP, Kucheria K |title=Cryptorchidism and AZF microdeletion |journal=Asian J. Androl. |volume=4 |issue= 2 |pages= 148 |year= 2003 |pmid= 12085107 |doi= }}
  • {{cite journal | vauthors=Dada R, Gupta NP, Kucheria K |title=AZF microdeletions associated with idiopathic and non-idiopathic cases with cryptorchidism and varicocele |journal=Asian J. Androl. |volume=4 |issue= 4 |pages= 259–63 |year= 2003 |pmid= 12508125 |doi= }}
  • {{cite journal |vauthors=Richard SM, Knuutila S, Peltomäki P, etal |title=Y chromosome instability in lymphoproliferative disorders |journal=Mutat. Res. |volume=525 |issue= 1–2 |pages= 103–7 |year= 2003 |pmid= 12650910 |doi=10.1016/S0027-5107(03)00007-1 }}
  • {{cite journal |vauthors=Raicu F, Popa L, Apostol P, etal |title=Screening for microdeletions in human Y chromosome--AZF candidate genes and male infertility |journal=J. Cell. Mol. Med. |volume=7 |issue= 1 |pages= 43–8 |year= 2003 |pmid= 12767260 |doi=10.1111/j.1582-4934.2003.tb00201.x }}
  • {{cite journal |vauthors=Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, etal |title=The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes |journal=Nature |volume=423 |issue= 6942 |pages= 825–37 |year= 2003 |pmid= 12815422 |doi= 10.1038/nature01722 }}
  • {{cite journal |vauthors=Hopps CV, Mielnik A, Goldstein M, etal |title=Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions |journal=Hum. Reprod. |volume=18 |issue= 8 |pages= 1660–5 |year= 2004 |pmid= 12871878 |doi=10.1093/humrep/deg348 }}
  • {{cite journal |vauthors=Lee KH, Song GJ, Kang IS, etal |title=Ubiquitin-specific protease activity of USP9Y, a male infertility gene on the Y chromosome |journal=Reprod. Fertil. Dev. |volume=15 |issue= 1–2 |pages= 129–33 |year= 2005 |pmid= 12895410 |doi=10.1071/RD03002 }}
  • {{cite journal |vauthors=Frydelund-Larsen L, Vogt PH, Leffers H, etal |title=No AZF deletion in 160 patients with testicular germ cell neoplasia |journal=Mol. Hum. Reprod. |volume=9 |issue= 9 |pages= 517–21 |year= 2004 |pmid= 12900510 |doi=10.1093/molehr/gag069 }}
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