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Mol. Hum. Reprod. Advance Access originally published online on June 15, 2006
Molecular Human Reproduction 2006 12(8):519-523; doi:10.1093/molehr/gal051
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© The Author 2006. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

DAZ gene copies: evidence of Y chromosome evolution

Ana Teresa Fernandes1,5, Susana Fernandes2, Rita Gonçalves1, Rosália Sá2,3, Paula Costa2, Alexandra Rosa1, Cristina Ferrás2, Mário Sousa2,3,4, António Brehm1 and Alberto Barros2,4

1Laboratory of Human Genetics, University of Madeira, Funchal, Madeira, 2Department of Genetics, Faculty of Medicine, 3Lab Cell Biology, ICBAS, University of Porto and 4Centre for Reproductive Genetics Alberto Barros, Porto, Portugal

5 To whom correspondence should be addressed at: Laboratory of Human Genetics, University of Madeira, Campus da Penteada, 9000-390 Funchal, Madeira, Portugal. E-mail: atgf{at}uma.pt

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 haplogroups. 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.

Key words: DAZ/infertile/phylogeny/Y chromosome


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P. Costa, R. Goncalves, C. Ferras, S. Fernandes, A. T. Fernandes, M. Sousa, and A. Barros
Identification of new breakpoints in AZFb and AZFc
Mol. Hum. Reprod., April 1, 2008; 14(4): 251 - 258.
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