The human Y chromosome’s azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men

摘要: Microdeletions of the Y chromosome long arm are most common mutations in infertile males, where they involve one or more "azoospermia factors" (AZFa, b, and c). Understanding AZF structure gene content mapping deletion breakpoints men still incomplete. We have assembled a complete 4.3 Mb map AZFb surrounding regions by means 38 BAC clones. The proximal part consists large repeated sequences organised palindromes, but it is single copy sequence. A number known novel genes families this interval, them testis specific transcripts. STS allowed us to identify four severely subjects with similar breakpoints, therefore suggesting mechanism. This includes at least five two duplicated genes, does not remove historical candidate RBMY1. These data suggest that other may important roles spermatogenesis. had no evidence for homologous recombination between repeats as possible mechanism, shown AZFa AZFc. However, identical AZFc exist, finding could explain deletions found these regions.