RBMY genes and AZFb deletions

被引:37
作者
Elliott, DJ [1 ]
机构
[1] Univ Newcastle Upon Tyne, Inst Human Genet, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
[2] Western Gen Hosp, MRC, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland
关键词
azoospermia factor; infertility; RNA binding proteins; pre-mRNA splicing;
D O I
10.1007/BF03343789
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Microdeletions of the AZFb region of the human Y chromosome usually result in severe consequences for spermatogenesis. AZFb contains at least four kinds of genes/gene families. These include a number of RBMY genes, which are clustered in the AZFb deletion interval. They are amongst the oldest genes on the mammalian Y chromosome, and are related to the gene encoding hnRNPG (RBMX) on the X chromosome. A retroposon-derived version of these genes is found on chromosome 11 that might replace the function of these genes during meiosis, during which time the X and Y chromosomes are transcriptionally inactivated. Each of these genes encodes proteins with an RNA binding motif, and interacts with more ubiquitously expressed proteins involved in pre-mRNA splice site selection. These findings imply that important pre-mRNA processing pathways might be disrupted in the germ cells of AZFb men. (C) 2000, Editrice Kurtis.
引用
收藏
页码:652 / 658
页数:7
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