Primary function analysis of human mental retardation related gene CRBN
Primary function analysis of human mental retardation related gene CRBN
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DOI：
10.1007/s11033-007-9077-3
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发表时间：
2008-06-01
影响因子：
2.8
通讯作者：
Qihan, Wu
中科院分区：
文献类型：
--
作者：
Xin, Wang;Xiaohua, Ni;Qihan, Wu
人类小脑基因（CRBN）突变与轻度智力低下有关。由于CRBN的分子特性还没有很好地呈现，我们研究了CRBN的一般性质。我们分析了其基因结构和蛋白同源物。CRBN蛋白可能属于三磷酸腺苷（ATP）依赖性Lon蛋白酶家族。我们还发现CRBN在不同组织中广泛表达，且在睾丸中的表达水平明显高于其他组织。这可能表明，除了大脑，它还可能在其他几个组织中发挥重要作用。在AD 293细胞系中瞬时转染实验表明，CRBN和CRBN突变体（核苷酸位置1274 (C > T)）均位于全细胞中。这可能提示除了在细胞质中具有线粒体蛋白酶活性外，CRBN在核仁中还具有新的功能。
The mutation of human cereblon gene (CRBN) is revealed to be related with mild mental retardation. Since the molecular characteristics of CRBN have not been well presented, we investigated the general properties of CRBN. We analyzed its gene structure and protein homologues. The CRBN protein might belong to a family of adenosine triphosphate (ATP)-dependent Lon protease. We also found that CRBN was widely expressed in different tissues, and the expression level in testis is significantly higher than other tissues. This may suggested it could play some important roles in several other tissues besides brain. Transient transfection experiment in AD 293 cell lines suggested that both CRBN and CRBN mutant (nucleotide position 1,274(C > T)) are located in the whole cells. This may suggest new functions of CRBN in cell nucleolus besides its mitochondria protease activity in cytoplasm.