Seki N, Muramatsu M, Sugano S, Suzuki Y, Nakagawara A, Ohhira M, Hayashi A, Hori T, Saito T
Genome Research Group, National Institute of Radiological Sciences, Chiba, Japan.
J Hum Genet. 1998;43(4):268-71. doi: 10.1007/s100380050087.
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.
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。
