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亨廷顿相互作用蛋白(HIP1)的同源物HIP1R的克隆、表达分析及染色体定位

Cloning, expression analysis, and chromosomal localization of HIP1R, an isolog of huntingtin interacting protein (HIP1).

作者信息

Seki N, Muramatsu M, Sugano S, Suzuki Y, Nakagawara A, Ohhira M, Hayashi A, Hori T, Saito T

机构信息

Genome Research Group, National Institute of Radiological Sciences, Chiba, Japan.

出版信息

J Hum Genet. 1998;43(4):268-71. doi: 10.1007/s100380050087.

Abstract

Huntington disease (HD) is an inherited neurodegenerative disorder which is associated with CAG expansion in the coding region of the gene for huntingtin protein. Recently, a huntingtin interacting protein, HIP1, was isolated by the yeast two-hybrid system. Here we report the isolation of a cDNA clone for HIP1R (huntingtin interacting protein-1 related), which encodes a predicted protein product sharing a striking homology with HIP1. RT-PCR analysis showed that the messenger RNA was ubiquitously expressed in various human tissues. Based on PCR-assisted analysis of a radiation hybrid panel and fluorescence in situ hybridization, HIP1R was localized to the q24 region of chromosome 12.

摘要

亨廷顿舞蹈病(HD)是一种遗传性神经退行性疾病,与亨廷顿蛋白基因编码区的CAG重复序列扩增有关。最近,通过酵母双杂交系统分离出一种亨廷顿相互作用蛋白HIP1。在此,我们报告了HIP1R(亨廷顿相互作用蛋白-1相关蛋白)cDNA克隆的分离,该克隆编码一种预测的蛋白产物,与HIP1具有显著同源性。RT-PCR分析表明,该信使RNA在各种人体组织中广泛表达。基于对辐射杂种细胞系的PCR辅助分析和荧光原位杂交,HIP1R定位于12号染色体的q24区域。

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