人类假定载脂蛋白E受体的基因位于12号染色体q13 - 14节段。

The gene for the human putative apoE receptor is on chromosome 12 in the segment q13-14.

作者信息

Myklebost O, Arheden K, Rogne S, Geurts van Kessel A, Mandahl N, Herz J, Stanley K, Heim S, Mitelman F

机构信息

Biochemistry Department, Institute for Cancer Research, Montebello, Norway.

出版信息

Genomics. 1989 Jul;5(1):65-9. doi: 10.1016/0888-7543(89)90087-6.

DOI:10.1016/0888-7543(89)90087-6

PMID:2548950

Abstract

We have previously described the cDNA coding for a new lipoprotein receptor that contains domains closely related to the ligand-binding domain of the LDL receptor. We have now investigated the localization of the gene for this new receptor by hybridization of the cDNA to panels of rodent cells containing subsets of human chromosomes and by in situ hybridization of the cDNA to chromosomes. The gene maps to 12q13-14, a known hot spot for chromosomal rearrangements in human neoplasia. Of particular interest is the frequent involvement of the 12q13-14 segment in clonal abnormalities in lipomas and myxoid liposarcomas, and it is possible that LRP may play a role in the pathogenesis of such tumors.

摘要

我们之前描述了一种新的脂蛋白受体的编码cDNA，该受体含有与低密度脂蛋白（LDL）受体的配体结合域密切相关的结构域。我们现在通过将该cDNA与包含人类染色体亚群的啮齿动物细胞板进行杂交，以及通过将该cDNA与染色体进行原位杂交，来研究这个新受体基因的定位。该基因定位于12q13 - 14，这是人类肿瘤中已知的染色体重排热点区域。特别令人感兴趣的是，12q13 - 14片段在脂肪瘤和黏液样脂肪肉瘤的克隆异常中频繁受累，并且低密度脂蛋白受体相关蛋白（LRP）有可能在此类肿瘤的发病机制中发挥作用。