当前位置: X-MOL 学术Nat. Rev. Genet. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Tandem repeats mediating genetic plasticity in health and disease
Nature Reviews Genetics ( IF 42.7 ) Pub Date : 2018-02-05 , DOI: 10.1038/nrg.2017.115
Anthony J. Hannan

Accumulating evidence suggests that many classes of DNA repeats exhibit attributes that distinguish them from other genetic variants, including the fact that they are more liable to mutation; this enables them to mediate genetic plasticity. The expansion of tandem repeats, particularly of short tandem repeats, can cause a range of disorders (including Huntington disease, various ataxias, motor neuron disease, frontotemporal dementia, fragile X syndrome and other neurological disorders), and emerging data suggest that tandem repeat polymorphisms (TRPs) can also regulate gene expression in healthy individuals. TRPs in human genomes may also contribute to the missing heritability of polygenic disorders. A better understanding of tandem repeats and their associated repeatome, as well as their capacity for genetic plasticity via both germline and somatic mutations, is needed to transform our understanding of the role of TRPs in health and disease.



中文翻译:

串联重复在健康和疾病中介导遗传可塑性

越来越多的证据表明,许多类型的DNA重复序列都具有将其与其他遗传变异区分开来的属性,包括它们更易于突变的事实。这使他们能够介导遗传可塑性。串联重复序列的扩增,特别是短串联重复序列的扩增,可能引起一系列疾病(包括亨廷顿病,各种共济失调,运动神经元疾病,额颞痴呆,脆性X综合征和其他神经系统疾病),新出现的数据表明串联重复序列多态性。 (TRP)也可以调节健康个体中的基因表达。人类基因组中的TRP也可能导致多基因疾病的遗传力缺失。更好地了解串联重复序列及其相关的重复组,

更新日期:2018-02-05
down
wechat
bug