A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region.
Genomics
; 83(6): 1046-52, 2004 Jun.
Article
em En
| MEDLINE
| ID: mdl-15177557
ABSTRACT
The human Y chromosome is replete with amplicons-very large, nearly identical repeats-which render it susceptible to interstitial deletions that often cause spermatogenic failure. Here we describe a recurrent, 1.8-Mb deletion that removes half of the azoospermia factor c (AZFc) region, including 12 members of eight testis-specific gene families. We show that this "b2/b3" deletion arose at least four times in human history-likely on inverted variants of the AZFc region that we find exist as common polymorphisms. We observed the b2/b3 deletion primarily in one family of closely related Y chromosomes-branch N in the Y-chromosome genealogy-in which all chromosomes carried the deletion. This branch is known to be widely distributed in northern Eurasia, accounts for the majority of Y chromosomes in some populations, and appears to be several thousand years old. The population-genetic success of the b2/b3 deletion is surprising, (i) because it removes half of AZFc and (ii) because the gr/gr deletion, which removes a similar set of testis-specific genes, predisposes to spermatogenic failure. Our present findings suggest either that the b2/b3 deletion has at most a modest effect on fitness or that, within branch N, its effect has been counterbalanced by another genetic, possibly Y-linked, factor.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Oligospermia
/
Deleção Cromossômica
/
Proteínas de Plasma Seminal
/
Cromossomos Humanos Y
Tipo de estudo:
Prognostic_studies
Limite:
Humans
/
Male
País/Região como assunto:
Asia
/
Europa
Idioma:
En
Revista:
Genomics
Assunto da revista:
GENETICA
Ano de publicação:
2004
Tipo de documento:
Article
País de afiliação:
Holanda