Retroposition of autosomal mRNA yielded testis-specific gene family on human Y chromosome.
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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Howard Hughes Medical Institute, Whitehead Institute and Department of Biology, Massachusetts Institute of Technology, Cambridge 02142, USA.
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D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D015152:Blotting, Northern; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D056970:Co-Repressor Proteins; D018076:DNA, Complementary / Q000235:genetics; D019143:Evolution, Molecular; D005091:Exons; D005260:Female; D015723:Gene Library; D051548:Histone Acetyltransferases; D006801:Humans; D006836:Hydro-Lyases; D007438:Introns; D008297:Male; D051379:Mice; D008815:Mice, Inbred Strains; D008957:Models, Genetic; D008969:Molecular Sequence Data; D009687:Nuclear Proteins; D009928:Organ Specificity; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics* / Q000378:metabolism; D012333:RNA, Messenger / Q000235:genetics; D017386:Sequence Homology, Amino Acid; D013737:Testis / Q000502:physiology*; D014998:Y Chromosome
C118459:CDY1 protein, human; C485564:CDY2A protein, human; D056970:Co-Repressor Proteins; D018076:DNA, Complementary; D009687:Nuclear Proteins; D011506:Proteins; D012333:RNA, Messenger; D051548:Histone Acetyltransferases; C118458:CDYL protein, human; C485563:Cdyl protein, mouse; D006836:Hydro-Lyases