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

Nat Genet. 1996 Nov;14(3):292-9. doi: 10.1038/ng1196-292.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Chromosome Mapping
  • Chromosomes, Human, Pair 3
  • Cloning, Molecular
  • DNA Transposable Elements*
  • Deleted in Azoospermia 1 Protein
  • Evolution, Molecular
  • Female
  • Gene Amplification
  • Gene Expression Regulation
  • Humans
  • Male
  • Molecular Sequence Data
  • Multigene Family*
  • Ovary
  • RNA-Binding Proteins / genetics*
  • Sequence Homology, Nucleic Acid
  • Tissue Distribution
  • Transcription, Genetic
  • Y Chromosome*


  • DAZ1 protein, human
  • DAZL protein, human
  • DNA Transposable Elements
  • Deleted in Azoospermia 1 Protein
  • RNA-Binding Proteins

Associated data

  • GENBANK/U21663
  • GENBANK/U65918