DAZ gene copies: evidence of Y chromosome evolution

• Tipo: Artigo em Revista Científica Internacional
• Data: 2006

Autores

Fernandes, AT (Autor) Outra; Fernandes, S (Autor) Outra; Goncalves, R (Autor) Outra; S, R (Autor) Outra; Costa, P (Autor) Outra; Rosa, A (Autor) Outra; Ferras, C (Autor) Outra; sousa, m (Autor) ICBAS; Brehm, A (Autor) Outra; barros, a (Autor) FMUP

Revista

Título: Molecular Human Reproduction

Vol. 12

Páginas: 519-523

ISSN: 1360-9947

Editora: Oxford University Press

Indexação

ISI Web of Knowledge - 22 Citações

Scopus - 23 Citações

Outras Informações

ID Authenticus: P-004-J9S

DOI: 10.1093/molehr/gal051

Abstract (EN): 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.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 5