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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >The gene for soluble N-ethylmaleimide sensitive factor attachment protein α is mutated in hydrocephaly with hop gait (hyh) mice
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The gene for soluble N-ethylmaleimide sensitive factor attachment protein α is mutated in hydrocephaly with hop gait (hyh) mice

机译：N-乙基马来酰亚胺敏感因子附着蛋白α的基因在蛇麻痹步态（hyh）小鼠脑积水中发生突变

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摘要

The spontaneous autosomal recessive mouse mutant for hydrocephaly with hop gait (hyh) exhibits dramatic cystic dilation of the ventricles at birth and invariably develops hopping gait. We show that the gene for soluble N-ethylmaleimide sensitive factor attachment protein α, also known as α-SNAP, is mutated in hyh mice. α-SNAP plays a key role in a wide variety of membrane fusion events in eukaryotic cells, including the regulated exocytosis of neurotransmitters. Homozygous mutant mice harbor a missense mutation M105I in a conserved residue in one of the α-helical domains. We demonstrate that the hyh mutant is not a null allele and is expressed; however, the mutant protein is 40% less abundant in hyh mice. The hyh mutant provides a valuable in vivo model to study vesicle/membrane trafficking and provides insight into the potential roles of α-SNAP in embryogenesis and brain development.
机译：自发常染色体隐性遗传隐匿性小鼠脑积水伴蛇行步态（hyh），在出生时表现出显着的脑室囊性扩张，并总是出现跳跃步态。我们显示，可溶性N-乙基马来酰亚胺敏感因子附着蛋白α（也称为α-SNAP）的基因在hyh小鼠中发生了突变。 α-SNAP在真核细胞的多种膜融合事件中起着关键作用，包括神经递质的调控胞吐作用。纯合突变小鼠在α-螺旋结构域之一的保守残基中具有错义突变M105I。我们证明了hyh突变体不是无效的等位基因，并且可以表达。但是，突变蛋白在hyh小鼠体内的含量降低了40％。 hyh突变体为研究囊泡/膜运输提供了有价值的体内模型，并提供了对α-SNAP在胚胎发生和脑发育中潜在作用的深入了解。

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