Frequent and recent retrotransposition of orthologous genes plays a role in the evolution of sperm glycolytic enzymes

BMC Genomics

Research Article

Soumya A Vemuganti¹  Deborah A O'Brien²  Fernando Pardo-Manuel de Villena³ 

[1] Department of Cell and Developmental Biology, University of North Carolina School of Medicine, 27599, Chapel Hill, NC, USA;Laboratories for Reproductive Biology, Department of Pediatrics, University of North Carolina School of Medicine, 27599, Chapel Hill, NC, USA;Department of Cell and Developmental Biology, University of North Carolina School of Medicine, 27599, Chapel Hill, NC, USA;Laboratories for Reproductive Biology, Department of Pediatrics, University of North Carolina School of Medicine, 27599, Chapel Hill, NC, USA;Lineberger Comprehensive Cancer Center, University of North Carolina School of Medicine, 27599, Chapel Hill, NC, USA;Department of Genetics, Carolina Center for Genome Sciences, University of North Carolina School of Medicine, 27599, Chapel Hill, NC, USA;Laboratories for Reproductive Biology, Department of Pediatrics, University of North Carolina School of Medicine, 27599, Chapel Hill, NC, USA;Lineberger Comprehensive Cancer Center, University of North Carolina School of Medicine, 27599, Chapel Hill, NC, USA;

关键词: Sperm Motility;    Glycolytic Enzyme;    Round Spermatid;    Testicular Germ Cell;    Pachytene Spermatocyte;   

DOI  :  10.1186/1471-2164-11-285

 received in 2009-08-26, accepted in 2010-05-06,  发布年份 2010

来源: Springer

【 摘 要 】

BackgroundThe central metabolic pathway of glycolysis converts glucose to pyruvate, with the net production of 2 ATP and 2 NADH per glucose molecule. Each of the ten reactions in this pathway is typically catalyzed by multiple isozymes encoded by a multigene family. Several isozymes in this pathway are expressed only during spermatogenesis, and gene targeting studies indicate that they are essential for sperm function and male fertility in mouse. At least three of the novel glycolytic isozymes are encoded by retrogenes (Pgk2, Aldoart1, and Aldoart2). Their restricted expression profile suggests that retrotransposition may play a significant role in the evolution of sperm glycolytic enzymes.ResultsWe conducted a comprehensive genomic analysis of glycolytic enzymes in the human and mouse genomes and identified several intronless copies for all enzymes in the pathway, except Pfk. Within each gene family, a single orthologous gene was typically retrotransposed frequently and independently in both species. Several retroposed sequences maintained open reading frames (ORFs) and/or provided evidence of alternatively spliced exons. We analyzed expression of sequences with ORFs and <99% sequence identity in the coding region and obtained evidence for the expression of an alternative Gpi1 transcript in mouse spermatogenic cells.ConclusionsOur analysis detected frequent, recent, and lineage-specific retrotransposition of orthologous glycolytic enzymes in the human and mouse genomes. Retrotransposition events are associated with LINE/LTR and genomic integration is random. We found evidence for the alternative splicing of parent genes. Many retroposed sequences have maintained ORFs, suggesting a functional role for these genes.

【 授权许可】

Unknown   
© Vemuganti et al; licensee BioMed Central Ltd. 2010. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.