等位基因特异性表达 Allele-specific expression (ASE)

https://doi.org/10.1146/annurev-biodatasci-021621-122219

主要名词解释

等位基因失衡 （Allelic imbalance）

Difference in chromatin state or mRNA or protein levels between the alleles at a locus

染色质状态或mRNA与蛋白质水平在同一基因座不同等位基因之间的差异

等位基因表达失衡（Allelic expression imbalance）

Allelic imbalance that results in differences in mRNA levels, from complete imbalance with exclusive expression of one allele to subtle differences in expression between alleles

以上情况的等位基因失衡导致的mRNA水平差异，包括完全失衡（aka只表达其中一个等位基因）和两种等位基因表达产物之间微弱的表达差异

等位基因特异性失衡（Allele-specific imbalance）

Difference in chromatin state or mRNA or protein levels between the alleles at a heterozygous locus that is due to the genetic differences between the alleles

由遗传差异导致的某一 杂合 基因座上的等位基因失衡

等位基因特异性表达（Allele-specific expression，即ASE）

Allelic expression imbalance that is genetic in origin, i.e., a difference in expression levels between alleles due to differences between the allele sequences

由等位 基因序列本身的差异 导致的差异性表达

另一种解释： ASE refers to unequal expression between paternal and maternal alleles of a gene in a diploid individual, driven by cis-regulatory variants located near the gene. (https://doi.org/10.1371/journal.pgen.1008786)

通过杂交两个不同品系进行转录组测序来研究ASE的原因（个人理解）

假定父系和母系具有不同的性状，且两个都是经由高度近交导致的纯合品系（比如AA和aa），F1后代就会是杂合Aa，这样一旦有ASE的存在，在F1后代的转录组数据中就能检测出来，然后进一步推断那些存在ASE的位点可能就是和特定性状相关的基因。