Department of Neurobiology & Anatomy, University of Utah, Salt Lake City, UT 84132-3401, USA; Department of Human Genetics, University of Utah, Salt Lake City, UT 84132-3401, USA.
Department of Neurobiology & Anatomy, University of Utah, Salt Lake City, UT 84132-3401, USA; Department of Human Genetics, University of Utah, Salt Lake City, UT 84132-3401, USA.
Curr Opin Neurobiol. 2019 Dec;59:69-78. doi: 10.1016/j.conb.2019.04.012. Epub 2019 May 30.
Typically, it is assumed that the maternal and paternal alleles for most genes are equally expressed. Known exceptions include canonical imprinted genes, random X-chromosome inactivation, olfactory receptors and clustered protocadherins. Here, we highlight recent studies showing that allele-specific expression is frequent in the genome and involves subtypes of epigenetic allelic effects that differ in terms of heritability, clonality and stability over time. Different forms of epigenetic allele regulation could have different roles in brain development, function, and disease. An emerging area involves understanding allelic effects in a cell-type and developmental stage-specific manner and determining how these effects influence the impact of genetic variants and mutations on the brain. A deeper understanding of epigenetics at the allele and cellular level in the brain could help clarify the mechanisms underlying phenotypic variance.
通常情况下，人们认为大多数基因的母源和父源等位基因的表达水平是相等的。但已知的例外情况包括经典印迹基因、随机 X 染色体失活、嗅觉受体和聚类原钙黏蛋白。在这里，我们重点介绍了最近的研究，这些研究表明，在基因组中，等位基因特异性表达是很常见的，涉及到不同遗传力、克隆性和随时间稳定性的亚型的表观遗传等位基因效应。不同形式的表观遗传等位基因调控可能在大脑发育、功能和疾病中具有不同的作用。一个新兴的领域涉及到以细胞类型和发育阶段特异性的方式理解等位基因效应，并确定这些效应如何影响遗传变异和突变对大脑的影响。在大脑中从等位基因和细胞水平更深入地了解表观遗传学可以帮助阐明表型变异的机制。
