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首页> 外文期刊>Biochemical Genetics >A rare Y chromosome missense mutation in exon 25 of human USP9Y revealed by pyrosequencing.
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A rare Y chromosome missense mutation in exon 25 of human USP9Y revealed by pyrosequencing.

机译：焦磷酸测序揭示人USP9Y外显子25中罕见的Y染色体错义突变。

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摘要

Ubiquitin-specific protease 9, Y-linked (USP9Y), is a protein encoded by the Y chromosome. Its precise function in the cell is unknown, although a role in the regulation of protein turnover has been postulated. Nonetheless, mutations in this gene could result in the over- or under-abundance of proteins involved in the regulation of spermatogenesis. We have identified a novel mutation, SM1, located in exon 25 of USP9Y (c.3642G-->A), which results in an amino acid substitution (p.V1214I). The mutation is in close linkage (four bases distant) from a silent mutation, referred to as M222 (p.E1212E, c.3636G-->A). In our male population (n = 374), SM1 was found in one individual (0.3%) who belongs to the recently described haplogroup R1b3h, defined by the U152 SNP. This new mutation is expected to represent a new haplogroup, (R1b1c10a); therefore, within our population of individuals from haplogroup R1b3h (R1b110) (n = 16), it has a frequency of 6.3% (95% CI: 2.7-9.9%).
机译：泛素特异性蛋白酶9（Y连锁）（USP9Y）是一种由Y染色体编码的蛋白质。尽管已经推测其在调节蛋白质更新中的作用，但其在细胞中的精确功能尚不清楚。但是，该基因的突变可能导致参与精子发生调节的蛋白质过量或不足。我们已经鉴定出一种新的突变SM1，位于USP9Y的外显子25（c.3642G-> A）上，该突变导致氨基酸取代（p.V1214I）。该突变与沉默突变（称为M222）紧密连锁（相距四个碱基）（p.E1212E，c.3636G-> A）。在我们的男性人群中（n = 374），在一个个体（0.3％）中发现了SM1，该个体属于最近描述的U152 SNP定义的单倍群R1b3h。这种新的突变有望代表一个新的单倍群（R1b1c10a）;因此，在我们单倍群R1b3h（R1b110）（n = 16）的个体人群中，它的频率为6.3％（95％CI：2.7-9.9％）。

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