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an exceptional gene evolution of the tspy gene family in humans and other great apes一个特殊基因tspy基因家族的进化人类和其他类人猿
Genes 2011, 2, 36-47; doi:10.3390/genes2010036
OPEN ACCESS
genes
ISSN 2073-4425
/journal/genes
Review
An Exceptional Gene: Evolution of the TSPY Gene Family in
Humans and Other Great Apes
Yali Xue and Chris Tyler-Smith *
The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambs. CB10 1SA,
UK; E-Mail: ylx@sanger.ac.uk
* Author to whom correspondence should be addressed; E-Mail: cts@sanger.ac.uk;
Tel.: +44-1223-495376; Fax: +44-1223-494919.
Received: 24 November 2010; in revised form: 24 December 2010 / Accepted: 28 December 2010 /
Published: 10 January 2011
Abstract: The TSPY gene stands out from all other human protein-coding genes because of
its high copy number and tandemly-repeated organization. Here, we review its evolutionary
history in great apes in order to assess whether these unusual properties are more likely to
result from a relaxation of constraint or an unusual functional role. Detailed comparisons
with chimpanzee are possible because a finished sequence of the chimpanzee Y
chromosome is available, together with more limited data from other apes. These
comparisons suggest that the human-chimpanzee ancestral Y chromosome carried a
tandem array of TSPY genes which expanded on the human lineage while undergoing
multiple duplication events followed by pseudogene formation on the chimpanzee lineage.
The protein coding region is the most highly conserved of the multi-copy Y genes in
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