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New subtypes of allele-specific epigenetic effects: implications for brain development, function and disease.
Current Opinion in Neurobiology ( IF 5.7 ) Pub Date : 2019-05-30 , DOI: 10.1016/j.conb.2019.04.012
Stephanie N Kravitz 1 , Christopher Gregg 1
Affiliation  

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.

中文翻译:

等位基因特异性表观遗传效应的新亚型:对大脑发育、功能和疾病的影响。

通常,假设大多数基因的母本和父本等位基因表达相同。已知的例外包括典型的印记基因、随机 X 染色体失活、嗅觉受体和聚集的原钙粘蛋白。在这里,我们强调最近的研究表明,等位基因特异性表达在基因组中很常见,并且涉及表观遗传等位基因效应的亚型,这些亚型随着时间的推移在遗传力、克隆性和稳定性方面有所不同。不同形式的表观遗传等位基因调控在大脑发育、功能和疾病中可能具有不同的作用。一个新兴领域涉及了解细胞类型和发育阶段特异性方式的等位基因效应,并确定这些效应如何影响遗传变异和突变对大脑的影响。
更新日期:2019-05-30
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