在小鼠基因组结构变异的基于序列的表征
Binnaz Yalcin1, Kim Wong, Avigail Agam
1The Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK.
Nature
|September 17, 2011
概括
结构变异 (SVs) 在小鼠基因组中很常见,反转移子插入是主要原因. 尽管SVs繁多,但它们很少影响基因表达或表型,尽管有些人会破坏基因功能,特别是在免疫学中.
科学领域:
- 基因组学就是基因组学.
- 哺乳动物遗传学 哺乳动物遗传学
- 分子生物学分子生物学
背景情况:
- 结构变异 (SVs) 在哺乳动物基因组中普遍存在,并与疾病有关.
- SVs对表型变异的丰度,起源和功能影响尚未完全理解.
研究的目的:
- 为了全面识别和表征内生小鼠菌株中的结构变异.
- 研究结构变异的原因和功能后果.
主要方法:
- 结合实验和自动化分析,在13种古典和4种野生来源的杂交小鼠菌株中识别SV.
- 将 SV 断点映射到基对分辨率上.
- 分析了SVs对基因表达和表型变异的影响.
主要成果:
- 在小鼠基因组中的281,243个位点确定了711,920个SV.
- 大多数VS是小的 (<1kb),其中98%是删除或插入.
- 逆转移子插入占识别的SVs的一半以上.
- 与其他序列变异相比,SVs影响基因表达或定量特征的可能性较小.
- 确定了24种破坏编码外子的SVs,其中三分之一影响免疫基因.
结论:
- 在小鼠基因组中,结构变异很丰富,主要是由逆转移子活性驱动的.
- 尽管SV的流行率很高,但与其他变异相比,SV对基因表达和表型的影响有限.
- 罕见的,大效应的SVs可以显著破坏基因功能,特别是影响免疫路径.
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