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An X-to-autosome retrogene is required for spermatogenesis in mice.

Abstract：

:We identified the gene carrying the juvenile spermatogonial depletion mutation (jsd), a recessive spermatogenic defect mapped to mouse chromosome 1 (refs. 1,2). We localized jsd to a 272-kb region and resequenced this area to identify the underlying mutation: a frameshift that severely truncates the predicted protein product of a 2.3-kb genomic open reading frame. This gene, Utp14b, evidently arose through reverse transcription of an mRNA from an X-linked gene and integration of the resulting cDNA into an intron of an autosomal gene, whose promoter and 5' untranslated exons are shared with Utp14b. To our knowledge, Utp14b is the first protein-coding retrogene to be linked to a recessive mammalian phenotype. The X-linked progenitor of Utp14b is the mammalian ortholog of yeast Utp14, which encodes a protein required for processing of pre-rRNA and hence for ribosome assembly. Our findings substantiate the hypothesis that mammalian spermatogenesis is supported by autosomal retrogenes that evolved from X-linked housekeeping genes to compensate for silencing of the X chromosome during male meiosis. We find that Utp14b-like retrogenes arose independently and were conserved during evolution in at least four mammalian lineages. This recurrence implies a strong selective pressure, perhaps to enable ribosome assembly in male meiotic cells.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Bradley J,Baltus A,Skaletsky H,Royce-Tolland M,Dewar K,Page DC

doi

10.1038/ng1390

keywords:

subject

Has Abstract

pub_date

2004-08-01 00:00:00

pages

872-6

issue

8

eissn

1061-4036

issn

1546-1718

pii

ng1390

journal_volume

36

pub_type

杂志文章

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