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Nat Genet. 1999 Apr;21(4):429-33.

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

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Howard Hughes Medical Institute, Whitehead Institute and Department of Biology, Massachusetts Institute of Technology, Cambridge 02142, USA.

Erratum in

  • Nat Genet 1999 Jun;22(2):209.


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.

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