A long-range restriction map of deletion interval 6 of the human Y chromosome: a region frequently deleted in azoospermic males.
A long-range restriction map of deletion interval 6 of the human Y chromosome: a region frequently deleted in azoospermic males.
复制标题
人类 Y 染色体删除区间 6 的长程限制性图谱：无精子男性中经常删除的区域。
作者：
Yen,PH
人类Y染色体的缺失间隔6（DI 6）位于长臂常染色质区的远端，是正常精子发生所必需的。大约10%的男性特发性无精子症或少精子症患者在该区域有微缺失。在这一区间内有6个基因家族，包括RBMY（RNA binding motif，Y chromosome）、DAZ（deleted in azospermia）和4个新近分离的基因。所有这些家族的基因都显示出睾丸特异性表达，因此是无精子因子（AZF）的候选者。DI 6还富含Y特异性重复序列，这可能是其频繁缺失的原因。为了理解该区域的序列组织，基于YAC克隆构建了5-Mb限制性内切酶图谱，并在基因组DNA上进行了部分验证。五个基因家族成员的位置，以及众多的STS，被确定。该图谱显示了几个大小为几百个碱基的反向和正向重复序列。DI 6的限制性酶切图谱将有助于将来在不育男性中定位缺失断点和阐明频繁缺失背后的机制。
Deletion interval 6 (DI6) of the human Y chromosome, located at the distal end of the long arm euchromatic region, is required for normal spermatogenesis. About 10% of males with idiopathic azoospermia or oligospermia have microdeletions in this region. Six gene families, includingRBMY(RNA binding motif, Y chromosome),DAZ(deleted in azoospermia), and four recently isolated genes, have been mapped to this interval. Genes from all of these families show testis-specific expression and are thus candidates forazoospermic factor(AZF). DI6 is also rich in Y-specific repetitive sequences, which may be responsible for its frequent deletion. To understand the sequence organization of this region, a 5-Mb restriction map was constructed based on YAC clones and was partially verified on genomic DNA. The locations of five gene family members, as well as numerous STSs, were determined. The map shows several inverted and direct repeats several hundred kilobases in size. The restriction map of DI6 will facilitate future mapping of deletion breakpoints in infertile males and elucidation of mechanisms behind frequent deletions.