Hum Mol Genet:FOXF2对人类和小鼠耳蜗的发育是需要的

2019-01-09 AlexYang MedSci原创

控制人类耳蜗发育的分子机制仍旧大部分未知。最近,有研究人员通过基因组测序在一名患有永久性感官听力损失的儿童中鉴定了一个纯合的变异c.325A > T (p.I109F),并且该儿童具有不完全的分割I型耳蜗异常。研究发现,该变异位点在公共数据库中并未发现,并且在种族匹配的1000个对照个体中也没有发现。I109在FOXF2蛋白的Fox结构域中是一个高度保守的氨基酸残基,FOXF2是Fox转录因

控制人类耳蜗发育的分子机制仍旧大部分未知。最近,有研究人员通过基因组测序在一名患有永久性感官听力损失的儿童中鉴定了一个纯合的变异c.325A > T (p.I109F),并且该儿童具有不完全的分割I型耳蜗异常。

研究发现,该变异位点在公共数据库中并未发现,并且在种族匹配的1000个对照个体中也没有发现。I109在FOXF2蛋白的Fox结构域中是一个高度保守的氨基酸残基,FOXF2是Fox转录因子家族成员之一,并且能够调控与胚发育和成年时期相关基因的表达。体外试验表明,与正常相比,FOXF2的半衰期减少。Foxf2在小鼠的发育和成熟的耳蜗中表达。小鼠Foxf2敲除个体表现出了耳蜗短和畸形2中表型,同时还包括了听毛细胞形状和神经的改变和平面细胞极性的缺失。另外,Eya1和Pax3的表达对耳蜗的发育是必需的,但是在Foxf2敲除小鼠中表达减少。

最后,研究人员指出,FOXF2在耳蜗发育中具有重要作用,其功能的异常能够导致感官听力损失和耳蜗发育的异常。

原始出处:

Bademci G, Abad C, Incesulu A et al. FOXF2 is required for cochlear development in humans and mice. Hum Mol Genet. Dec 2018.

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    2019-06-04 canlab
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    2019-03-03 cy0324
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    2019-01-11 neurowu

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