The properties of the human Y chromosome–namely, male specificity, haploidy and escape
from crossing over—make it an unusual component of the genome, and have led to its …

Male infertility represents one of the clearest examples of a complex disease with a
substantial genetic basis. Numerous male mouse models, mutation screening and …

Microdeletions of the Y chromosome are the second most frequent genetic cause of
spermatogenetic failure in infertile men after the Klinefelter syndrome. The molecular …

Genetic causes account for 10–15% of severe male infertility, including chromosomal
aberrations and single gene mutations. Natural selection prevents the transmission of …

Azoospermia due to obstructive and non-obstructive mechanisms is a common
manifestation of male infertility accounting for 10-15% of such cases. Known genetic factors …

The Y chromosome harbors a number of genes essential for testis development and
function. Its highly repetitive structure predisposes this chromosome to deletion/duplication …

Population genetics is central to our understanding of human variation, and by linking
medical and evolutionary themes, it enables us to understand the origins and impacts of our …

BACKGROUND The three azoospermia factor (AZF) regions of the Y chromosome represent
genomic niches for spermatogenesis genes. Yet, the most distal region, AZFc, is a major …

Male factor infertility accounts for about half the cases of couple infertility and in around 50%
of cases its etiology remains unknown. Molecular genetic techniques have unveiled a …

Background: Complete deletions of the AZFc region in distal Yq are the most frequent
molecular genetic cause of severe male infertility. They are caused by intrachromosomal …