Y染色体の一部欠損は男性不妊の原因となる　

1999/12/24 性染色体の１つのY 染色体は精子を造るのに不可欠であるが、その中の"USP9Y" 遺伝子の突然変異により男性不妊になることが判明した。

Defective gene linked to male infertility

By Shaun Griffin, PhD
NEW YORK, Dec 24 (Reuters Health) -- A specific mutation on the Y (male) chromosome may be a cause of impaired sperm production in some men, according to researchers.
``In recent years, we've come to understand that the Y chromosome is critical in making sperm, and that defects in the Y chromosome cause infertility in many men,'' explained study senior author Dr. David C. Page, of the Massachusetts Institute of Technology in Boston. The findings are published in the December issue of the journal Nature Genetics.
Previous studies have indicated that mutations in one of three regions on the Y chromosome can cause subfertility (impaired fertility) or infertility in affected men.
In their study, the Boston researchers sought out Y chromosome mutations in the genetic material of nearly 600 men who were diagnosed as being subfertile due to problems producing sperm.
Focusing their efforts on one of the three suspect regions of the Y chromosome, the investigators found that mutations in the USP9Y gene appeared to be associated with subfertility.
According to the investigators, the mutation ``was present in a (subfertile) man... but absent in his fertile brother,'' pointing to the mutation as the probable cause of subfertility.
The discovery of specific genetic mutations as a cause of subfertility may be a first step in devising gene-oriented therapies aimed at correcting the disorder. In an interview with Reuters Health, Page said, ``Until now, we'd not seen a 'smoking gun' -- a new mutation -- implicating a specific Y-chromosome gene in male infertility.''
``We are only at the beginning of this story,'' he added. ''There will be more smoking guns to be found in other genes, on the Y chromosome and elsewhere, in the future.'' SOURCE: Nature Genetics 1999;23:429-432.

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