Mol. Hum. Reprod. Advance Access published online on June 15, 2006
Molecular Human Reproduction, doi:10.1093/molehr/gal051
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1 Laboratory of Human Genetics, University of Madeira, Funchal, Madeira
* To whom correspondence should be addressed. The DAZ gene, a contributing factor in infertility, lies on the human Y chromosome’s AZFc region, whose deletion is a common cause of spermatogenic failure. Y chromosome binary polymorphisms on the non-recombining Y (NRY) region, believed to be a single occurrence on an evolutionary scale, were typed in a sample of fertile and infertile men with known DAZ backgrounds. The Y single-nucleotide polymorphisms (Y-SNPs) with low mutation rates are currently well characterized and permit the construction of a unique phylogeny of haplogroups. DAZ haplotypes were defined using single-nucleotide variant (SNV)/sequence tagged-site (STS) markers to distinguish between the four copies of the gene. The variation of 10 Y chromosome short tandem repeat (STRs) was used to determine the coalescence age of DAZ haplotypes in a comparable time frame similar to that of SNP haplo-groups. An association between DAZ haplotypes and Y chromosome haplogroups was found, and our data show that the DAZ gene is not under selective constraints and its evolution depends only on the mutation rate. The same variants were common to fertile and infertile men, although partial DAZ deletions occurred only in infertile men, suggesting that those should only be used as a tool for infertility diagnosis when analysed in combination with haplogroup determinations.
Received February 7, 2006
Revised May 8, 2006
Accepted May 11, 2006
Article
DAZ gene copies: evidence of Y chromosome evolution
Ana Teresa Fernandes 1 *,
Susana Fernandes 2,
Rita Gonçalves 1,
Rosália Sá 3,
Paula Costa 2,
Alexandra Rosa 1,
Cristina Ferrás 2,
Mário Sousa 4,
António Brehm 1,
and
Alberto Barros 5
2 Department of Genetics, Faculty of Medicine, Porto, Portugal
3 Department of Genetics, Faculty of Medicine; Lab Cell Biology, ICBAS, University of Porto, Porto, Portugal
4 Department of Genetics, Faculty of Medicine; Lab Cell Biology, ICBAS, University of Porto; Centre for Reproductive Genetics Alberto Barros, Porto, Portugal
5 Department of Genetics, Faculty of Medicine; Centre for Reproductive Genetics Alberto Barros, Porto, Portugal
Ana Teresa Fernandes, E-mail: atgf{at}uma.pt
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