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Usp9y(Y染色体上的泛素特异性蛋白酶9基因)与一个功能性启动子相关联,并编码一个与Usp9x同源的完整开放阅读框,该阅读框处于选择约束之下。

Usp9y (ubiquitin-specific protease 9 gene on the Y) is associated with a functional promoter and encodes an intact open reading frame homologous to Usp9x that is under selective constraint.

作者信息

Hall Nicola M, Brown Graeme M, Furlong Robert A, Sargent Carole A, Mitchell Michael, Rocha Dominique, Affara Nabeel A

机构信息

Human Molecular Genetics Group, Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge, CB2 1QP, UK.

出版信息

Mamm Genome. 2003 Jul;14(7):437-47. doi: 10.1007/s00335-002-3068-4.

Abstract

Sequences complementary to the X-linked ubiquitin-specific protease gene Usp9x (Dffrx) have been shown to map to the Sxr(b) interval of the mouse Y Chromosome (chr) and to be expressed in a testis-specific manner. In humans, ubiquitously expressed functional homologues (USP9Y and USP9X DFFRY/DFFRX) are present on both sex chromosomes, whereas in mouse it remains to be demonstrated that the Y-linked sequences encode a functional protein. In this paper, it is shown that the Usp9y gene encodes a potentially functional ubiquitin-specific protease possessing a core promoter region that shares several features characteristic of other testis-specific genes. Analysis of synonymous and nonsynonymous nucleotide changes suggests that there is constraint on the amino acid sequence of both the mouse Usp9x and Usp9y genes, a finding that mirrors similar analysis of the human orthologs. Thus, in both mouse and human, selection is acting to maintain the amino acid sequence of the X and Y-linked genes. This indicates that in both species the genes on each sex chromosome continue to encode an important function.

摘要

与X连锁泛素特异性蛋白酶基因Usp9x(Dffrx)互补的序列已被证明定位于小鼠Y染色体(chr)的Sxr(b)区间,并以睾丸特异性方式表达。在人类中,两条性染色体上都存在普遍表达的功能同源物(USP9Y和USP9X DFFRY/DFFRX),而在小鼠中,Y连锁序列是否编码功能性蛋白质仍有待证明。本文表明,Usp9y基因编码一种潜在功能性的泛素特异性蛋白酶,其具有一个核心启动子区域,该区域具有其他睾丸特异性基因的几个特征。对同义核苷酸变化和非同义核苷酸变化的分析表明,小鼠Usp9x和Usp9y基因的氨基酸序列受到限制,这一发现与对人类直系同源基因的类似分析结果一致。因此,在小鼠和人类中,选择作用于维持X和Y连锁基因的氨基酸序列。这表明在这两个物种中,每条性染色体上的基因都继续编码重要功能。

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