Comparative analysis of human masculinity

B.K. Bhowmick, N. Takahata, M. Watanabe, Y. Satta
Published November 23, 2006
Genet. Mol. Res. 5 (4): 696-712 (2006)

About the authors
B.K. Bhowmick, N. Takahata, M. Watanabe, Y. Satta

Corresponding author
B.K. Bhowmick


To study rapidly evolving male specific Y (MSY) genes we retrieved and analyzed nine such genes. VCY, HSFY and RBMY were found to have functional X gametologs, but the rest did not. Using chimpanzee orthologs for XKRY, CDY, HSFY, PRY, and TSPY, the average silent substitution is estimated as 0.017 ± 0.006/site and the substitution rate is 1.42 x 10-9/site/year. Except for VCY, all other loci possess two or more pseudogenes on the Y chromosome. Sequence differences from functional genes show that BPY2, DAZ, XKRY, and RBMY each have one pseudogene for each one that is human specific, while others were generated well before the human-chimpanzee split,by means of duplication, retro-transposition or  ranslocation. Some functional MSY gene duplication of VCY, CDY and HSFY, as well as Xlinked VCX and HSFX duplication, occurred in the lineage leading to humans; these duplicates have accumulated nucleotide substitutions that permit their identification.

Key words: Substitution rate, Divergence time, Pseudogene, Palindrome, Evolutionary mechanism, Maleness.

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