KEGG   DISEASE: Y-連鎖精子形成異常
エントリ  
H02534                                                             
名称    
Y-連鎖精子形成異常
  下位グループ
Sertoli cell-only 症候群
  上位グループ
精子形成異常 [DS:H01282]
概要    
The important role of the human Y chromosome in the causation of male infertility is increasingly recognized. The Y chromosome harbors a number of genes essential for testis development and function.
カテゴリ  
生殖器系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 16 泌尿生殖器系の疾患
  男性生殖器系の疾患
   GB04  男性不妊
    H02534  Y-連鎖精子形成異常
病因遺伝子 
USP9Y [HSA:8287] [KO:K11840]
BPY2 [HSA:9083] [KO:K26999]
CDY1 [HSA:9085] [KO:K00653]
DAZ1 [HSA:1617] [KO:K24980]
DAZ2 [HSA:57055] [KO:K24980]
DDX3Y [HSA:8653] [KO:K17642]
PRY [HSA:9081]
PRY2 [HSA:442862]
RBMY1A1 [HSA:5940] [KO:K25090]
リンク   
ICD-11: GB04.Y
OMIM: 400042 415000
文献    
PMID:29454353
  著者
Colaco S, Modi D
  タイトル
Genetics of the human Y chromosome and its association with male infertility.
  雑誌
Reprod Biol Endocrinol 16:14 (2018)
DOI:10.1186/s12958-018-0330-5
文献    
PMID:17558462
  著者
Lu C, Zhang F, Xia Y, Wu B, Gu A, Lu N, Wang S, Shen H, Jin L, Wang X
  タイトル
The association of Y chromosome haplogroups with spermatogenic failure in the Han Chinese.
  雑誌
J Hum Genet 52:659-663 (2007)
DOI:10.1007/s10038-007-0160-3
文献    
PMID:22514689
  著者
Eloualid A, Rhaissi H, Reguig A, Bounaceur S, El Houate B, Abidi O, Charif M, Louanjli N, Chadli E, Barakat A, Bashamboo A, McElreavey K, Rouba H
  タイトル
Association of spermatogenic failure with the b2/b3 partial AZFc deletion.
  雑誌
PLoS One 7:e34902 (2012)
DOI:10.1371/journal.pone.0034902
文献    
PMID:10581029 (USP9Y)
  著者
Sun C, Skaletsky H, Birren B, Devon K, Tang Z, Silber S, Oates R, Page DC
  タイトル
An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y.
  雑誌
Nat Genet 23:429-32 (1999)
DOI:10.1038/70539
文献    
PMID:12207887 (BPY2)
  著者
Wong EY, Tse JY, Yao KM, Tam PC, Yeung WS
  タイトル
VCY2 protein interacts with the HECT domain of ubiquitin-protein ligase E3A.
  雑誌
Biochem Biophys Res Commun 296:1104-11 (2002)
DOI:10.1016/s0006-291x(02)02040-5
文献    
PMID:15520406 (CDY1)
  著者
Machev N, Saut N, Longepied G, Terriou P, Navarro A, Levy N, Guichaoua M, Metzler-Guillemain C, Collignon P, Frances AM, Belougne J, Clemente E, Chiaroni J, Chevillard C, Durand C, Ducourneau A, Pech N, McElreavey K, Mattei MG, Mitchell MJ
  タイトル
Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility.
  雑誌
J Med Genet 41:814-25 (2004)
DOI:10.1136/jmg.2004.022111
文献    
PMID:15744033 (DAZ1 DAZ2)
  著者
Ferlin A, Tessari A, Ganz F, Marchina E, Barlati S, Garolla A, Engl B, Foresta C
  タイトル
Association of partial AZFc region deletions with spermatogenic impairment and male infertility.
  雑誌
J Med Genet 42:209-13 (2005)
DOI:10.1136/jmg.2004.025833
文献    
PMID:10767340 (DDX3Y)
  著者
Foresta C, Ferlin A, Moro E
  タイトル
Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility.
  雑誌
Hum Mol Genet 9:1161-9 (2000)
DOI:10.1093/hmg/9.8.1161
文献    
PMID:15177557 (PRY, PRY2, RBMY1A1)
  著者
Repping S, van Daalen SK, Korver CM, Brown LG, Marszalek JD, Gianotten J, Oates RD, Silber S, van der Veen F, Page DC, Rozen S
  タイトル
A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region.
  雑誌
Genomics 83:1046-52 (2004)
DOI:10.1016/j.ygeno.2003.12.018
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