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在一家汉族中国人中发现了一种TP63突变,该突变患有外皮性发育不良

Xi Zhou¹, Chengcheng Zhang¹, Liwen Fan¹

¹Department of Orthodontics, The Affiliated Stomatology Hospital of Nanjing Medical University, Nanjing, China; Jiangsu Province Key Laboratory of Oral Diseases, Nanjing Medical University, China; Jiangsu Province Engineering Research Center of Stomatological Translational Medicine, Nanjing Medical University, China.

Archives of oral biology

|May 31, 2023

概括

在汉族中华家庭中发现了一种新型TP63基因突变 (c.1010G>A:p.Arg337Gln),将其与外皮发育不良联系起来. 这一发现推动了我们对外皮疾病和TP63基因功能的理解.

科学领域:

遗传学是一个遗传学.
分子生物学分子生物学
发展生物学发展生物学

背景情况:

TP63基因突变与各种发育障碍有关.
了解TP63在人类发育中的确切作用对于诊断和治疗相关疾病至关重要.

研究的目的:

在汉族中华族核家族中识别TP63基因的病原性突变.
调查鉴定突变对TP63蛋白质结构和基因表达的功能影响.

主要方法:

整体外体和桑格测序被用来检测遗传变异.
使用AlphaFold和PyMOL预测了蛋白质结构.
单细胞RNA测序和时空转录基因数据分析了基因表达模式.
进行了基因本体学 (GO) 和基因和基因组的京都百科全书 (KEGG) 途径分析.

主要成果:

在试验中确定了TP63外体8中的异合体误解变体 (c.1010G>A:p.Arg337Gln).
预计该变种具有有害性,可能会影响蛋白质的稳定性.
TP63在皮肤组织中表达很高,在特定的胚胎组织 (粘膜表皮,胸腺,表皮,介质,表面外皮) 中富含.
分析表明TP63通过TGF-β信号通路对外皮发育产生积极影响.

结论:

鉴定到的TP63误解变体 (c.1010G>A:p.Arg337Gln) 与外皮发育不良有关.
这项研究阐明了TP63在外皮发育中的作用,并为研究家庭中外皮发育不良的遗传基础提供了基因.

关键词:

皮外性发育不良症皮外性发育不良症血统发现的发现.在 TP6363 中使用.整体外基因组测序的测序

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