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基于IRS-PCR的小鼠5号染色体上亨廷顿相互作用蛋白基因(HIP1)的基因定位。

IRS-PCR-based genetic mapping of the huntingtin interacting protein gene (HIP1) on mouse chromosome 5.

作者信息

Himmelbauer H, Wedemeyer N, Haaf T, Wanker E E, Schalkwyk L C, Lehrach H

机构信息

Max-Planck-Institute for Molecular Genetics, Berlin-Dahlem, Germany.

出版信息

Mamm Genome. 1998 Jan;9(1):26-31. doi: 10.1007/s003359900674.

Abstract

Huntington's disease (HD) is a devastating central nervous system disorder. Even though the gene responsible has been positionally cloned recently, its etiology has remained largely unclear. To investigate potential disease mechanisms, we conducted a search for binding partners of the HD-protein huntingtin. With the yeast two-hybrid system, one such interacting factor, the huntingtin interacting protein-1 (HIP-1), was identified (Wanker et al. 1997; Kalchman et al. 1997) and the human gene mapped to 7q11.2. In this paper we demonstrate the localization of the HIP1 mouse homologue (Hip1) into a previously identified region of human-mouse synteny on distal mouse Chromosome (Chr) 5, both employing an IRS-PCR-based mapping strategy and traditional fluorescent in situ hybridization (FISH) mapping.

摘要

亨廷顿舞蹈症(HD)是一种毁灭性的中枢神经系统疾病。尽管最近已对致病基因进行了定位克隆,但其病因在很大程度上仍不清楚。为了研究潜在的疾病机制,我们对亨廷顿舞蹈症蛋白亨廷顿(huntingtin)的结合伴侣进行了搜索。利用酵母双杂交系统,我们鉴定出了一种这样的相互作用因子,即亨廷顿相互作用蛋白1(HIP-1)(万克等人,1997年;卡尔奇曼等人,1997年),并将人类基因定位到7q11.2。在本文中,我们运用基于IRS-PCR的定位策略和传统的荧光原位杂交(FISH)定位方法,证明了HIP1小鼠同源物(Hip1)定位于小鼠远端5号染色体上一个先前确定的人鼠同线性区域。

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