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首页> 美国卫生研究院文献>Molecular and Cellular Biology >Targeted Deletion of the tub Mouse Obesity Gene Reveals that tubby Is a Loss-of-Function Mutation
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Targeted Deletion of the tub Mouse Obesity Gene Reveals that tubby Is a Loss-of-Function Mutation

机译：有针对性地删除木桶小鼠肥胖基因揭示木桶是功能丧失突变

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摘要

The mouse tubby phenotype is characterized by maturity-onset obesity accompanied by retinal and cochlear degeneration. A positional cloning effort to find the gene responsible for this phenotype led to the identification of tub, a member of a novel gene family of unknown function. A splice defect mutation in the 3′ end of the tub gene, predicted to disrupt the C terminus of the Tub protein, has been implicated in the genesis of the tubby phenotype. It is not clear, however, whether the Tub mutant protein retains any biological activity, or perhaps has some dominant function, nor is it established that the tubby mutation is itself responsible for all of the observed tubby phenotypes. To address these questions, we generated tub-deficient mice and compared their phenotype to that of tubby mice. Our results demonstrate that tubby is a loss-of-function mutation of the tub gene and that loss of the tub gene is sufficient to give rise to the full spectrum of tubby phenotypes. We also demonstrate that loss of photoreceptors in the retina of tubby and tub-deficient mice occurs by apoptosis. In addition, we show that Tub protein expression is not significantly altered in the ob, db, or melanocortin 4 receptor-deficient mouse model of obesity.
机译：小鼠tubby表型的特征是成熟期肥胖症伴有视网膜和耳蜗变性。为了找到负责该表型的基因而进行的位置克隆工作导致了tub的鉴定，tub是未知功能的新型基因家族的成员。已在tubby表型的发生中牵涉到tub基因的3'末端的剪接缺陷突变，预计会破坏Tub蛋白的C末端。但是，尚不清楚Tub突变蛋白是否保留任何生物学活性，或者是否具有某些显性功能，也没有确定tubby突变本身是否对所有观察到的tubby表型负责。为了解决这些问题，我们生成了缺乏木桶症的小鼠，并将它们的表型与海狸鼠的表型进行了比较。我们的结果表明，tubby是tub基因的功能缺失突变，tub基因的缺失足以引起tubby表型的全谱。我们还证明，在大桶和缺乏大桶的小鼠视网膜中感光细胞的丢失是由细胞凋亡引起的。此外，我们显示在肥胖症的ob，db或melanocortin 4受体缺陷型小鼠模型中，Tub蛋白表达没有明显改变。

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