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{{Infobox_gene}}
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'''Ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)''', also known as '''USP9Y''', is an [[enzyme]] which in [[human]]s is encoded by the ''USP9Y'' [[gene]].<ref name="entrez"/> 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.
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== Clinical significance ==
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Mutations in this gene have been associated with [[Sertoli cell-only syndrome]] (SCO) and male infertility.<ref name="entrez">{{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 = }}</ref>
{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)
| HGNCid = 12633
| Symbol = USP9Y
| AltSymbols =; SP3; AZF; AZFA; DFFRY
| OMIM = 400005
| ECnumber = 
| Homologene = 68408
| MGIid = 1313274
| GeneAtlas_image1 = PBB_GE_USP9Y_206624_at_tn.png
| Function = {{GNF_GO|id=GO:0004221 |text = ubiquitin thiolesterase activity}} {{GNF_GO|id=GO:0005509 |text = calcium ion binding}} {{GNF_GO|id=GO:0005544 |text = calcium-dependent phospholipid binding}} {{GNF_GO|id=GO:0008234 |text = cysteine-type peptidase activity}}
| Component =
| Process = {{GNF_GO|id=GO:0006511 |text = ubiquitin-dependent protein catabolic process}} {{GNF_GO|id=GO:0006512 |text = ubiquitin cycle}} {{GNF_GO|id=GO:0007283 |text = spermatogenesis}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 8287
    | Hs_Ensembl = ENSG00000114374
    | Hs_RefseqProtein = NP_004645
    | Hs_RefseqmRNA = NM_004654
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = Y
    | Hs_GenLoc_start = 13322554
    | Hs_GenLoc_end = 13482162
    | Hs_Uniprot = O00507
    | Mm_EntrezGene = 107868
    | Mm_Ensembl = ENSMUSG00000069044
    | Mm_RefseqmRNA = NM_148943
    | Mm_RefseqProtein = NP_683745
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = Y
    | Mm_GenLoc_start = 635400
    | Mm_GenLoc_end = 796225
    | Mm_Uniprot = 
  }}
}}
'''Ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)''', also known as '''USP9Y''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: USP9Y ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8287| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
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.<ref name="pmid19246359">{{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 = }}</ref><ref name="pmid19246366">{{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 }}</ref>
{{PBB_Summary
| section_title =  
| summary_text = This gene is a member of the peptidase C19 family. It encodes a protein that is similar to ubiquitin-specific proteases, which cleave the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. Mutations in this gene have been associated with Sertoli cell-only (SCO) syndrome and male infertility.<ref name="entrez">{{cite web | title = Entrez Gene: USP9Y ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8287| accessdate = }}</ref>
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=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=  }}
*{{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  | author=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=  }}
*{{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 | author=Vogt PH, Edelmann A, Kirsch S, ''et al.'' |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=  }}
*{{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 | author=Jones MH, Furlong RA, Burkin H, ''et al.'' |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= }}
*{{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  | author=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=  }}
*{{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 | author=Brown GM, Furlong RA, Sargent CA, ''et al.'' |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=  }}
*{{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  | author= |title=Toward a complete human genome sequence. |journal=Genome Res. |volume=8 |issue= 11 |pages= 1097-108 |year= 1999 |pmid= 9847074 |doi=  }}
*{{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 | author=Sun C, Skaletsky H, Birren B, ''et al.'' |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=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  | author=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= }}
*{{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 | author=Friel A, Houghton JA, Glennon M, ''et al.'' |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=  }}
*{{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 | author=Ioulianos A, Sismani C, Fourouclas N, ''et al.'' |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=  }}
*{{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  | author=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=Cryptorchidism and AZF microdeletion |journal=Asian J. Androl. |volume=4 |issue= 2 |pages= 148 |year= 2003 |pmid= 12085107 |doi=  }}
*{{cite journal  | author=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=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 | author=Richard SM, Knuutila S, Peltomäki P, ''et al.'' |title=Y chromosome instability in lymphoproliferative disorders. |journal=Mutat. Res. |volume=525 |issue= 1-2 |pages= 103-7 |year= 2003 |pmid= 12650910 |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 | author=Raicu F, Popa L, Apostol P, ''et al.'' |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= }}
*{{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 | author=Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, ''et al.'' |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=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 | author=Hopps CV, Mielnik A, Goldstein M, ''et al.'' |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=  }}
*{{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 | author=Lee KH, Song GJ, Kang IS, ''et al.'' |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=  }}
*{{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 | author=Frydelund-Larsen L, Vogt PH, Leffers H, ''et al.'' |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=  }}
*{{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 }}
}}
}}
{{refend}}
{{refend}}
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| update_citations = yes
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Latest revision as of 01:54, 27 October 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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. 1.0 1.1 "Entrez Gene: USP9Y ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)".
  2. Luddi A, Margollicci M, Gambera L, Serafini F, Cioni M, De Leo V, Balestri P, Piomboni P (February 2009). "Spermatogenesis in a man with complete deletion of USP9Y". N. Engl. J. Med. 360 (9): 881–5. doi:10.1056/NEJMoa0806218. PMID 19246359.
  3. Tyler-Smith C, Krausz C (February 2009). "The Will-o'-the-Wisp of Genetics—Hunting for the Azoospermia Factor Gene". N. Engl. J. Med. 360 (9): 925–7. doi:10.1056/NEJMe0900301. PMC 2700876. PMID 19246366.

Further reading

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