Hall Nicola M, Brown Graeme M, Furlong Robert A, Sargent Carole A, Mitchell Michael, Rocha Dominique, Affara Nabeel A
Human Molecular Genetics Group, Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge, CB2 1QP, UK.
Mamm Genome. 2003 Jul;14(7):437-47. doi: 10.1007/s00335-002-3068-4.
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.
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。