Perspectives on Allele-Specific Expression
Perspectives on Allele-Specific Expression
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DOI：
10.1146/annurev-biodatasci-021621-122219
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发表时间：
2021-01-01
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影响因子：
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通讯作者：
Seoighe, Cathal
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文献类型：
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作者：
Cleary, Siobhan;Seoighe, Cathal
二倍体对群体遗传学和遗传疾病的易感性具有深远的意义。虽然人类基因组中的大多数基因都有两个拷贝，但它们不一定都是活跃的，或者在给定的个体中处于相同的水平。基因组印记，导致排他性或偏向性的表达有利于等位基因的父亲或母亲的起源，现在被认为是影响数百个人类基因。由于顺式作用的遗传变异干扰基因表达，更多的基因显示基因拷贝的不平等表达。应用于大量个体和组织类型的RNA测序产生的数据的可用性产生了前所未有的机会，以评估基因表达中的等位基因不平衡的遗传变异的贡献。在这里，我们回顾了通过分析这些数据获得的见解，关于等位基因表达不平衡的遗传贡献的程度，基因表达不平衡的工具和统计模型，以及所获得的结果揭示了遗传变异改变基因表达对复杂人类疾病和表型的贡献。
Diploidy has profound implications for population genetics and susceptibility to genetic diseases. Although two copies are present for most genes in the human genome, they are not necessarily both active or active at the same level in a given individual. Genomic imprinting, resulting in exclusive or biased expression in favor of the allele of paternal or maternal origin, is now believed to affect hundreds of human genes. A far greater number of genes display unequal expression of gene copies due to cis-acting genetic variants that perturb gene expression. The availability of data generated by RNA sequencing applied to large numbers of individuals and tissue types has generated unprecedented opportunities to assess the contribution of genetic variation to allelic imbalance in gene expression. Here we review the insights gained through the analysis of these data about the extent of the genetic contribution to allelic expression imbalance, the tools and statistical models for gene expression imbalance, and what the results obtained reveal about the contribution of genetic variants that alter gene expression to complex human diseases and phenotypes.