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TheDAZgene cluster on the human Y chromosome is a candidate for the Azoospermia Factor (AZFc). According to the current evolutionary model, theDAZcluster derived from the autosomal homologDAZL1through duplications and rearrangements and is confined to Old World monkeys, apes and humans. To study functional and evolutionary aspects ofthis gene family we have isolated from a cynomolgus (Old World) monkey testis cDNA library the Y chromosomalcynDAZand the autosomalcynDAZL1cDNA.cynDAZL1contains oneDAZrepeat and displays high homology to humanDAZL1. cynDAZcomprises 11 repeats, each consisting of exons 7 and 8, whereas the humanDAZcDNA repeat units contain predominantly exon 7. Genomic studies revealed the same amplification 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 ofcynDAZreveal a more detailed model for the sequence of events leading to the present form of humanDAZ. Thus, in a monkey speciesDAZis present in a form more ancestral than that of the human. Studies on the immunolocalization ofcynDAZDAZLIin 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 lackingDAZ, DAZL1protein was only expressed in late spermatocytes and early spermatids. These findings point to an additional function ofcynDAZcynDAZL1during spermato-genesis in the Old World monkey not needed in the New World monkey.

human molecular genetics

The Old World Monkey               DAZ               (Deleted in Azoospermia) Gene Yields Insights into the Evolution of the               DAZ               Gene Cluster on the Human Y Chromosome