鉴定USP9X作为白血病易感基因
Saumya Dushyant Sisoudiya1,2, Pamela Mishra3, He Li3
1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
Blood advances
|June 8, 2023
概括
USP9X基因变异与出生缺陷的女性患儿白血病的风险更高有关. 这项研究确定USP9X是一种新的女性特异性白血病倾向基因.
科学领域:
- 遗传学 是一个遗传学.
- 儿科瘤学 儿科瘤学
- 发展生物学 发展生物学
背景情况:
- 患有多种出生缺陷的儿童面临患儿童癌症的风险较高.
- 这种关联的遗传基础需要进一步研究.
研究的目的:
- 确定导致儿童同时出现出生缺陷和癌症的遗传因素.
- 研究USP9X基因变异在儿科白血病和发育障碍中的作用.
主要方法:
- 进行全基因组测序,对具有出生缺陷和癌症的探头及其父母进行测序.
- 结构变异分析发现USP9X.中出现了一种新的de novo删除.
- 基因型-表型相关性使用现有和新发现的女性试验物进行.
主要成果:
- 在USP9X中,在一个患有多种先天性缺陷,发育迟缓和B细胞急性淋巴细胞白血病 (B-ALL) 的女性试验者中发现了一种新的异构体内除.
- 与对照组 (0.003%) 相比,功能丧失 (LoF) USP9X变异和多种异常的女性试验者显示B-ALL的累积发病率明显更高 (7.1%).
- USP9X LoF变体与女性的神经发育障碍和白血病风险有关,而男性的低形态变体仅存在神经发育障碍.
结论:
- USP9X被确定为一种新的女性特异性基因,易患白血病,与先天性异常和神经发育障碍相关.
- 在零星的B-ALL中,USP9X在两性中都充当瘤抑制剂,低表达与高风险患者的生存率较差相关.
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