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The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned

Nature Genetics volume 14, pages 292–299 (1996)Cite this article

Abstract

It is widely believed that most or all Y–chromosomal genes were once shared with the X chromosome. The DAZ gene is a candidate for the human Y–chromosomal Azoospermia Factor (AZF). We report multiple copies of DAZ (>99% identical in DNA sequence) clustered in the AZF region and a functional DAZ homologue (DAZH) on human chromosome 3. The entire gene family appears to be expressed in germ cells. Sequence analysis indicates that the Y–chromosomal DAZ cluster arose during primate evolution by (i) transposing the autosomal gene to the Y, (ii) amplifying and pruning exons within the transposed gene and (iii) amplifying the modified gene. These results challenge prevailing views of sex chromosome evolution, suggesting that acquisition of autosomal fertility genes is an important process in Y chromosome evolution.

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Authors and Affiliations

  1. Howard Hughes Medical Institute Massachusetts Institute of Technology, 9 Cambridge Center, Cambridge, Massachusetts, 02142, USA

    Richa Saxena, Laura G. Brown, Raaji K. Alagappan, Helen Skaletsky, Renee Reijo, Steve Rozen & David C. Page

  2. Center for Genome Research, Whitehead Institute and Department of Biology, Massachusetts Institute of Technology, 9 Cambridge Center, Cambridge, Massachusetts, 02142, USA

    Trevor Hawkins, Mary Pat Reeve, Steve Rozen & David C. Page

  3. Department of Pathology, University of Washington, Seattle, Washington, 98195, USA

    Mary Beth Dinulos & Christine M. Disteche

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Saxena, R., Brown, L., Hawkins, T. et al. The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned. Nat Genet 14, 292–299 (1996). https://doi.org/10.1038/ng1196-292

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