Article
An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y.
Nature genetics - 1 Dec 1999
Sun C, Skaletsky H, Birren B, Devon K, Tang Z, Silber S, Oates R, Page D C
Abstract excerpt
In humans, deletion of any one of three Y-chromosomal regions- AZFa, AZFb or AZFc-disrupts spermatogenesis, causing infertility in otherwise healthy men. Although candidate genes have been identified in all three regions, no case of spermatogenic failure has been traced to a point mutation in a Y-linked gene, or to a deletion of a single Y-linked gene. We sequenced the AZFa region of the Y chromosome and...
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