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排除将13-kDa雷帕霉素结合蛋白基因(FKBP2)作为1型多发性内分泌肿瘤候选基因的可能性。

Exclusion of the 13-kDa rapamycin binding protein gene (FKBP2) as a candidate gene for multiple endocrine neoplasia type 1.

作者信息

Grimmond S, Weber G, Larsson C, Walters M, Teh B, Shepherd J, Nordenskjold M, Hayward N

机构信息

Queensland Cancer Fund Research Unit, Queensland Institute of Medical Research, Herston, Australia.

出版信息

Hum Genet. 1995 Apr;95(4):455-8. doi: 10.1007/BF00208976.

Abstract

The MEN1 gene is considered to be a tumour suppressor gene and has been localised to a 1-Mb region of 11q13.1. In this study, we report the physical localisation of the 13-kDa FK506 and rapamycin binding protein gene (FKBP2) to the cosmid marker D11S750, which is located inside the MEN1 region of non-recombination. The product of this gene is involved in signal transduction and is thus a candidate cell growth regulator or tumour suppressor gene. Northern studies have revealed that FKBP2 is expressed in those tissues predisposed to hyperplasia in MEN1; however, single-strand conformation polymorphism analysis and direct sequencing of DNAs from affected members of MEN1 kindreds and sporadic tumour DNAs have been performed and no mutations have been found. These studies exclude FKBP2 as a candidate gene for MEN1.

摘要

MEN1基因被认为是一种肿瘤抑制基因,已被定位到11q13.1的一个1兆碱基区域。在本研究中,我们报告了13 kDa FK506和雷帕霉素结合蛋白基因(FKBP2)在黏粒标记D11S750上的物理定位,该标记位于非重组的MEN1区域内。该基因的产物参与信号转导,因此是细胞生长调节因子或肿瘤抑制基因的候选者。Northern研究表明,FKBP2在MEN1中易于发生增生的那些组织中表达;然而,已经对MEN1家系的患病成员和散发性肿瘤DNA进行了单链构象多态性分析和直接测序,未发现突变。这些研究排除了FKBP2作为MEN1候选基因的可能性。

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