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Background  The  Azoospermia Factor c  ( AZFc ) region of the human Y chromosome is a unique product of segmental duplication. It consists almost entirely of very long amplicons, represented by different colors, and is frequently deleted in subfertile men. Most of the  AZFc  amplicons have high sequence similarity with autosomal segments, indicating recent duplication and transposition to the Y chromosome. The  Deleted in Azoospermia  ( DAZ ) gene within the red-amplicon arose from an ancestral autosomal  DAZ-like  ( DAZL ) gene. It varies significantly between different men regarding to its copy number and the numbers of RNA recognition motif and DAZ repeat it encodes. We used Southern analyses to study the evolution of  DAZ  and  AZFc  amplicons on the Y chromosomes of primates.    Results  The Old World monkey rhesus macaque has only one  DAZ  gene. In contrast, the great apes have multiple copies of  DAZ , ranging from 2 copies in bonobos and gorillas to at least 6 copies in orangutans, and these  DAZ  genes have polymorphic structures similar to those of their human counterparts. Sequences homologous to the various  AZFc  amplicons are present on the Y chromosomes of some but not all primates, indicating that they arrived on the Y chromosome at different times during primate evolution.    Conclusion  The duplication and transposition of  AZFc  amplicons to the human Y chromosome occurred in three waves, i.e., after the branching of the New World monkey, the gorilla, and the chimpanzee/bonobo lineages, respectively. The red-amplicon, one of the first to arrive on the Y chromosome, amplified by inverted duplication followed by direct duplication after the separation of the Old World monkey and the great ape lineages. Subsequent duplication/deletion in the various lineages gave rise to a spectrum of  DAZ  gene structure and copy number found in today's great apes.

Evolution of the DAZ gene and the AZFc region on primate Y chromosomes