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

Frequent and recent retrotransposition of orthologous genes plays a role in the evolution of sperm glycolytic enzymes.
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DOI:
10.1186/1471-2164-11-285
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发表时间:
2010-05-06
期刊:
影响因子:
4.4
通讯作者:
O'Brien DA
O'Brien DA
中科院分区:
生物学2区
文献类型:
--
作者:
Vemuganti SA;de Villena FP;O'Brien DA

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糖酵解的中心代谢途径将葡萄糖转化为丙酮酸,每个葡萄糖分子净产生2个ATP和2个NADH。这一途径中的十个反应中的每一个典型地由一个多基因家族编码的多个同工酶催化。该途径中的几种同工酶仅在精子发生过程中表达,基因打靶研究表明,它们对小鼠的精子功能和雄性生育能力是必不可少的。至少有三种新的糖酵解同工酶是由逆转录基因(Pgk2、Aldoart1和Aldoart2)编码的。它们的限制性表达谱表明,逆转录转座可能在精子糖酵解酶的进化中发挥重要作用。我们对人类和小鼠基因组中的糖酵解酶进行了全面的基因组分析,并确定了除PFK以外的所有酶的几个无内含子拷贝。在每个基因家族中,单个同源基因通常在两个物种中频繁且独立地逆转录转座。一些逆转录序列维持开放阅读框(ORF)和/或提供了选择性剪接外显子的证据。我们分析了具有ORFs和编码区99%序列同源性的序列的表达,获得了在小鼠生精细胞中表达另一种Gpi1转录本的证据。我们的分析在人类和小鼠基因组中发现了频繁的、最近的和谱系特异性的同源糖酵解酶的逆转录转位。逆转座子事件与LINE/LTR相关,基因组整合是随机的。我们发现了亲本基因选择性剪接的证据。许多逆转录序列保持了ORF,这表明这些基因具有功能作用。
The 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. We 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. Our 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.
DOI: 10.1530/jrf.0.0630169
发表时间: 1981-01-01
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影响因子: --
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发表时间: 2005-10-01
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