Retroposition of autosomal mRNA yielded testis-specific gene family on human Y chromosome

Nat Genet. 1999 Apr;21(4):429-33. doi: 10.1038/7771.


Most genes in the human NRY (non-recombining portion of the Y chromosome) can be assigned to one of two groups: X-homologous genes or testis-specific gene families with no obvious X-chromosomal homologues. The CDY genes have been localized to the human Y chromosome, and we report here that they are derivatives of a conventional single-copy gene, CDYL (CDY-like), located on human chromosome 13 and mouse chromosome 6. CDY genes retain CDYL exonic sequences but lack its introns. In mice, whose evolutionary lineage diverged before the appearance of the Y-linked derivatives, the autosomal Cdyl gene produces two transcripts; one is expressed ubiquitously and the other is expressed in testes only. In humans, autosomal CDYL produces only the ubiquitous transcript; the testis-specific transcript is the province of the Y-borne CDY genes. Our data indicate that CDY genes arose during primate evolution by retroposition of a CDYL mRNA and amplification of the retroposed gene. Retroposition contributed to the gene content of the human Y chromosome, together with two other molecular evolutionary processes: persistence of a subset of genes shared with the X chromosome and transposition of genomic DNA harbouring intact transcription units.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Blotting, Northern
  • Chromosome Mapping
  • Cloning, Molecular
  • Co-Repressor Proteins
  • DNA, Complementary / genetics
  • Evolution, Molecular
  • Exons
  • Female
  • Gene Library
  • Histone Acetyltransferases
  • Humans
  • Hydro-Lyases
  • Introns
  • Male
  • Mice
  • Mice, Inbred Strains
  • Models, Genetic
  • Molecular Sequence Data
  • Nuclear Proteins*
  • Organ Specificity
  • Polymerase Chain Reaction
  • Proteins / genetics*
  • Proteins / metabolism
  • RNA, Messenger / genetics
  • Sequence Homology, Amino Acid
  • Testis / physiology*
  • Y Chromosome*


  • CDY1 protein, human
  • CDY2A protein, human
  • Co-Repressor Proteins
  • DNA, Complementary
  • Nuclear Proteins
  • Proteins
  • RNA, Messenger
  • Histone Acetyltransferases
  • CDYL protein, human
  • Cdyl protein, mouse
  • Hydro-Lyases

Associated data

  • GENBANK/AF080597
  • GENBANK/AF080598
  • GENBANK/AF081258
  • GENBANK/AF081259
  • GENBANK/AF081260
  • GENBANK/AF081261