Coordinated evolution of the SNORD115 and SNORD116 tandem repeats at the imprinted Prader–Willi/Angelman locus

Mathilde Guibert, Hélène Marty-Capelle, Anne Robert, Bruno Charpentier, S. Labialle
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Abstract

The Prader–Willi/Angelman syndrome (PWS/AS) locus is regulated by the epigenetic mechanism of parental genomic imprinting. This region holds two eutherian-specific, large tandem repeats of box C/D small nucleolar RNA (Snord) genes called SNORD115 and SNORD116, whose loss of paternal expression is key in the development of the PWS. Snords represent an ancient class of noncoding RNAs that typically direct the 2′-O-methylation of specific nucleotides of ribosomal RNAs. However, Snord115 and Snord116 belong to the large class of orphan Snords whose functions remain unclear. The constraints that generated and maintained their unusual genetic organization for mammalian genomes have been poorly addressed to date. Here, a comparative analysis of the evolutionary history of both tandem repeats reveals that several genetic events affected them concomitantly, including copy gains and losses between species, emergence of gene subfamilies in catarrhines or partial tandem duplication in rats. Several indications suggest that parental genomic imprinting orchestrated this coordination of events, adding a new effect on mammalian genome structure and evolution to its roles in gene dosage, meiotic recombination and replication timing. Finally, our work provides a functional rationale for the existence of closely located tandem repeats of small RNA genes in mammalian genomes.
SNORD115和SNORD116串联重复序列在Prader-Willi/Angelman印迹基因座上的协调进化
Prader-Willi/Angelman综合征(PWS/AS)基因座受父母基因组印记的表观遗传机制调控。该区域有两个被称为 SNORD115 和 SNORD116 的盒 C/D 小核 RNA(Snord)基因的大串联重复序列,这两个基因的父系表达缺失是 PWS 发病的关键。Snords是一类古老的非编码RNA,通常指导核糖体RNA特定核苷酸的2′-O-甲基化。然而,Snord115 和 Snord116 属于功能尚不清楚的一大类孤儿 Snords。迄今为止,哺乳动物基因组中产生和维持其不寻常遗传组织的制约因素还没有得到很好的研究。本文对这两个串联重复序列的进化历史进行了比较分析,结果显示,有几个遗传事件同时影响了它们,包括物种间的拷贝增减、猫科动物基因亚家族的出现或大鼠的部分串联重复。一些迹象表明,亲代基因组印记协调了这些事件,除了在基因剂量、减数分裂重组和复制时间上发挥作用外,还对哺乳动物基因组结构和进化产生了新的影响。最后,我们的研究为哺乳动物基因组中存在位置紧密的小 RNA 基因串联重复提供了功能上的依据。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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