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首页> 外文期刊>Clinical immunology: The official journal of the Clinical Immunology Society >A heterozygous dominant-negative mutation in the coiled-coil domain of STATI is the cause of autosomal-dominant Mendelian susceptibility to mycobacterial diseases
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A heterozygous dominant-negative mutation in the coiled-coil domain of STATI is the cause of autosomal-dominant Mendelian susceptibility to mycobacterial diseases

机译：汀类卷曲卷域中的杂合子显性阴性突变是常染色体显性孟德尔对分枝杆菌疾病的原因

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摘要

Heterozygous dominant-negative mutations of STATI are responsible for autosomal-dominant Mendelian susceptibility to mycobacterial diseases (AD-MSMD). So far, only 7 mutations have been previously described and are localized to 3 domains: the DNA-binding domain, the SH2 domain, and the tail segment. In this study, we demonstrated the first coiled-coil domain (CCD) mutation of c.749G>C, p.G250A (G250A) in STATI as a genetic cause of AD-MSMD in a patient with mycobacterial multiple osteomyelitis. This de novo heterozygous mutation was shown to have a dominant-negative effect on the gamma-activated sequence (GAS) transcriptional activity following IFN-gamma stimulation, which could be attributable to the abolished phosphorylation of STATI from the wild-type (WT) allele. The three-dimensional structure of STATI revealed the G250 residue was located distant from a cluster of residues affected by gain-of-function mutations responsible for chronic mucocutaneous candidiasis. (C) 2016 Elsevier Inc. All rights reserved.
机译：统计学的杂合子显性阴性突变是对分枝杆菌疾病的常染色体显性孟德尔的敏感性（Ad-MSMD）负责。到目前为止，先前只描述了7个突变，并将其定位为3个结构域：DNA结合结构域，SH2结构域和尾部。在这项研究中，我们证明了Sati的第一个卷曲卷域（CCD）C.749g> C，P.G250A（G250A）的突变突变，​​作为分枝杆菌多骨髓炎的患者患者中的AD-MSMD的遗传原因。该DE Novo杂合突变显示出对IFN-γ刺激后γ-活化的序列（气体）转录活性的显性负面影响，其可归因于来自野生型（wt）等位基因的废除鉴定鉴定磷酸化。 STATI的三维结构揭示了G250残基位于距离受慢性粘膜肽念珠菌病的功能性突变影响的残留簇的距离。 （c）2016年Elsevier Inc.保留所有权利。

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