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

First Author  Lahn BT Year  1999
Journal  Nat Genet Volume  21
Issue  4 Pages  429-33
PubMed ID  10192397 Mgi Jnum  J:51454
Mgi Id  MGI:1333914 Doi  10.1038/7771
Citation  Lahn BT, et al. (1999) Retroposition of autosomal mRNA yielded testis-specific gene family on human Y chromosome [published erratum appears in Nat Genet 1999 Jun;22(2):209]. Nat Genet 21(4):429-33
abstractText  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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