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Open Access Highly Accessed Research article

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

Yueh-Hsiang Yu12, Yi-Wen Lin2, Jane-Fang Yu3, Werner Schempp4 and Pauline H Yen12*

Author Affiliations

1 Graduate Institute of Life Sciences, National Defense Medical Center, Taipei, Taiwan

2 Institute of Biomedical Sciences, Academia Sinica, Taiwan

3 Taipei Zoo, Taipei, Taiwan

4 Institute of Human Genetics and Anthropology, University of Freiburg, Germany

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BMC Evolutionary Biology 2008, 8:96  doi:10.1186/1471-2148-8-96

Published: 26 March 2008

Abstract

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.