KEGG DISEASE: Y-linked spermatogenic failure

DISEASE: Y-linked spermatogenic failure

Entry

H02534                      Disease

Name

Y-linked spermatogenic failure

Subgroup

Sertoli cell-only syndrome

Supergrp

Spermatogenic failure [DS:H01282]

Description

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.

Category

Reproductive system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
16 Diseases of the genitourinary system
  Diseases of the male genital system
   GB04  Male infertility
    H02534  Y-linked spermatogenic failure

Gene

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]

Other DBs

ICD-11:

GB04.Y

OMIM:

400042 415000

Reference

PMID:29454353

Authors

Colaco S, Modi D

Title

Genetics of the human Y chromosome and its association with male infertility.

Journal

Reprod Biol Endocrinol 16:14 (2018)
DOI:10.1186/s12958-018-0330-5

Reference

PMID:17558462

Authors

Lu C, Zhang F, Xia Y, Wu B, Gu A, Lu N, Wang S, Shen H, Jin L, Wang X

Title

The association of Y chromosome haplogroups with spermatogenic failure in the Han Chinese.

Journal

J Hum Genet 52:659-663 (2007)
DOI:10.1007/s10038-007-0160-3

Reference

PMID:22514689

Authors

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

Title

Association of spermatogenic failure with the b2/b3 partial AZFc deletion.

Journal

PLoS One 7:e34902 (2012)
DOI:10.1371/journal.pone.0034902

Reference

PMID:10581029 (USP9Y)

Authors

Sun C, Skaletsky H, Birren B, Devon K, Tang Z, Silber S, Oates R, Page DC

Title

An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y.

Journal

Nat Genet 23:429-32 (1999)
DOI:10.1038/70539

Reference

PMID:12207887 (BPY2)

Authors

Wong EY, Tse JY, Yao KM, Tam PC, Yeung WS

Title

VCY2 protein interacts with the HECT domain of ubiquitin-protein ligase E3A.

Journal

Biochem Biophys Res Commun 296:1104-11 (2002)
DOI:10.1016/s0006-291x(02)02040-5

Reference

PMID:15520406 (CDY1)

Authors

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

Title

Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility.

Journal

J Med Genet 41:814-25 (2004)
DOI:10.1136/jmg.2004.022111

Reference

PMID:15744033 (DAZ1 DAZ2)

Authors

Ferlin A, Tessari A, Ganz F, Marchina E, Barlati S, Garolla A, Engl B, Foresta C

Title

Association of partial AZFc region deletions with spermatogenic impairment and male infertility.

Journal

J Med Genet 42:209-13 (2005)
DOI:10.1136/jmg.2004.025833

Reference

PMID:10767340 (DDX3Y)

Authors

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 9:1161-9 (2000)
DOI:10.1093/hmg/9.8.1161

Reference

PMID:15177557 (PRY, PRY2, RBMY1A1)

Authors

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

Title

A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region.

Journal

Genomics 83:1046-52 (2004)
DOI:10.1016/j.ygeno.2003.12.018

LinkDB

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