无序蛋白区域的功能获得性突变导致的人类疾病。
Human Diseases from Gain-of-Function Mutations in Disordered Protein Regions.
机构信息
MRC Laboratory of Molecular Biology, Francis Crick Avenue, Cambridge CB2 0QH, UK.
出版信息
Cell. 2018 Sep 20;175(1):40-42. doi: 10.1016/j.cell.2018.08.059.
PMID:30241614
Abstract
Although there is much focus on the impact of mutations on structured protein domains, less is known about their impact on unstructured regions. In this issue, Meyer et al. demonstrate that mutations resulting in the emergence of new short linear peptide motifs within intrinsically disordered protein regions can cause human genetic diseases by gain of function.
摘要
虽然人们非常关注突变对结构蛋白结构域的影响，但对其对无结构区域的影响知之甚少。在本期杂志中，Meyer 等人表明，导致内在无序蛋白区域内出现新的短线性肽基序的突变可以通过获得功能导致人类遗传疾病。
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