UTP14c may be functionally equivalent to mouse Utp14b and required for normal male fertility in humans. The novel evolution of retroposed UTP14 genes supports the hypothesis that retrogenes play an important role in evolution via regulation of male reproductive fitness.
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1. J. Rohozinski, D. J. Lamb and C. E. Bishop (2006) UTP14c is a recently acquired retrogene associated with spermatogenesis and fertility in man. Biol Reprod 74(4): 644-51.
Abstract In the mouse, Utp14b is a retrogene transposed to an intron of Acsl3 (long-chain-fatty-acid coenzyme A ligase 3) on mouse chromosome 1. It represents a copy of Utp14a, a ubiquitously expressed, X-linked gene involved in 18S rRNA synthesis. The Utp14b is specifically expressed in male germ cells and, when mutated in the jsd (juvenile spermatogonial depletion) mouse, results in early spermatogenic arrest and male infertility. To understand the function and relevance of the orthologous human gene in testis pathology, we mapped transcripts and searched for mutations within the gene in infertile males. In humans, the strict ortholog of UTP14b has degenerated and is no longer functional. However, a second active retroposon, UTP14c, is found within a widely expressed, putative glycosyl transferase-containing gene, GT8, on human chromosome 13. Unlike mouse Utp14b, which is only expressed in the male germ line, human UTP14c is expressed in testis and ovary, which is consistent with having a gonad-specific function. To determine if UTP14c is functionally equivalent to mouse Utp14b and essential to spermatogenesis in humans, we screened DNA from 234 nonobstructive, azoospermic/severely oligospermic males and 208 proven-fertile controls for mutations within UTP14c. We identified a mutation in three unrelated patients that introduces an in-frame stop codon truncating the UTP14c protein near the carboxyl terminus. These data indicate that UTP14c may be functionally equivalent to mouse Utp14b and required for normal male fertility in humans. The novel evolution of retroposed UTP14 genes supports the hypothesis that retrogenes play an important role in evolution via regulation of male reproductive fitness. PMID: [16354793]
CHAIN 1 766 U3 small nucleolar RNA-associated protein 14 homolog C. /FTId=PRO_0000065736. COILED 216 245 Potential. COILED 316 346 Potential. COILED 452 470 Potential. MOD_RES 28 28 Phosphoserine. MOD_RES 36 36 Phosphoserine. VARIANT 85 85 G -> V (in dbSNP:rs3742289). /FTId=VAR_022812. VARIANT 101 101 T -> A (in dbSNP:rs3742290). /FTId=VAR_022813. VARIANT 319 319 R -> H (in dbSNP:rs17402034). /FTId=VAR_051482. Back to Top