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

• Published in: Mammalian genome 2003-07, Vol.14 (7), p.437-447
• Main Authors: Hall, Nicola M, Brown, Graeme M, Furlong, Robert A, Sargent, Carole A, Mitchell, Michael, Rocha, Dominique, Affara, Nabeel A
• Format: Article
• Language: English
• Subjects: Amino Acid Sequence; Animals; Base Sequence; Endopeptidases - genetics; Humans; Mice; Minor Histocompatibility Antigens; Molecular Sequence Data; Promoter Regions, Genetic; RNA, Messenger; Selection, Genetic; Ubiquitin Thiolesterase
• ISSN: 0938-8990; 1432-1777
• 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.