• PMID: 16777954
• Gene Name: DAZ1
• Condition: Infertility
• Association: 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 infertil
• Mutation: Deletion, snps
• Population size: 207
• Population details: 97 infertile ( sertoli-cell-only syndrome, maturation arrest, hipospermatogenesis), 91 fertile, 19 infertile (complete AZFc deletions)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: sertoli-cell-only syndrome, maturation arrest, hipospermatogenesis

DAZ gene copies: evidence of Y chromosome evolution

Fernandes AT, Fernandes S, Gonçalves R, Sá R, Costa P, Rosa A, Ferrás C, Sousa M, Brehm A, Barros A.

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. FAU - Fernandes, Ana Teresa AU - Fernandes AT AD - Laboratory of Human Genetics, University of Madeira, Campus la Penteada, 9000-390 Funchal, Madeira, Portugal. atgf@uma.pt FAU - Fernandes, Susana AU - Fernandes S FAU - Gonçalves, Rita AU - Gonçalves R FAU - Sá, Rosália AU - Sá R FAU - Costa, Paula AU - Costa P FAU - Rosa, Alexandra AU - Rosa A FAU - Ferrás, Cristina AU - Ferrás C FAU - Sousa, Mário AU - Sousa M FAU - Brehm, António AU - Brehm A