Human Molecular Genetics, Vol 8, 2017-2024, Copyright © 1999 by Oxford University Press
J Gromoll, GF Weinbauer, H Skaletsky, S Schlatt, M Rocchietti-March, DC Page and E Nieschlag
The DAZ gene cluster on the human Y chromosome is a candidate for the
Azoospermia Factor (AZFc). According to the current evolutionary model, the
DAZ cluster derived from the autosomal homolog DAZL1 through duplications
and rearrangements and is confined to Old World monkeys, apes and humans.
To study functional and evolutionary aspects of this gene family we have
isolated from a cynomolgus (Old World) monkey testis cDNA library the Y
chromosomal cynDAZ and the autosomal cynDAZL1 cDNA. cynDAZL1 contains one
DAZ repeat and displays high homology to human DAZL1. cynDAZ comprises 11
repeats, each consisting of exons 7 and 8, whereas the human DAZ cDNA
repeat units contain predominantly exon 7. Genomic studies revealed the
same amplific- ation events of a 2.4 kb genomic unit encompassing exons 7
and 8 in both species, indicating that after splitting of the two lineages,
in the human mainly exon 8 was converted to a pseudoexon by splice site
mutations. The structural features of cynDAZ reveal a more detailed model
for the sequence of events leading to the present form of human DAZ. Thus,
in a monkey species DAZ is present in a form more ancestral than that of
the human. Studies on the immunolocalization of cynDAZ / DAZL1 in
cynomolgus monkey testis revealed a biphasic expression pattern with
proteins being detectable in A-pale to B-spermatogonia, late spermatocytes
and spermatids, but not in early spermatocytes and late spermatids. In
contrast, in the marmoset monkey, an animal lacking DAZ, DAZL1 protein was
only expressed in late spermatocytes and early spermatids. These findings
point to an additional function of cynDAZ / cynDAZL1 during spermato-
genesis in the Old World monkey not needed in the New World monkey.
ARTICLES
The old world monkey DAZ (Deleted in AZoospermia) gene yields insights into the evolution of the DAZ gene cluster on the human Y chromosome
Institute of Reproductive Medicine of the University, Domagkstrasse 11, D-48129 Munster, Germany and.
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