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在小鼠13号染色体上鉴定出一个男性生殖细胞肿瘤易感性决定基因座pgct1。

A male germ cell tumor-susceptibility-determining locus, pgct1, identified on murine chromosome 13.

作者信息

Muller A J, Teresky A K, Levine A J

机构信息

DuPont Pharmaceuticals, Glenolden, PA 19036; and The Rockefeller University, New York, NY 10021, USA.

出版信息

Proc Natl Acad Sci U S A. 2000 Jul 18;97(15):8421-6. doi: 10.1073/pnas.140208197.

DOI:10.1073/pnas.140208197
PMID:10890890
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC26963/
Abstract

Inbred 129 strain mice are predisposed to developing male germ cell tumors (GCTs) of the testes. The inherent genetic defects that underlie male GCT susceptibility in the 129 mouse strain are unknown. GCT incidence is increased in 129 strain males that lack functional p53 protein, and we have used this finding to facilitate the generation of panels of GCT-bearing intercross and backcross mice for genetic mapping analysis. A 129 strain locus, designated pgct1, that segregates with the male GCT phenotype has been identified on chromosome 13 near D13Mit188. This region of murine chromosome 13 may be syntenic to a portion of human chromosome 5q that is implicated in male GCT susceptibility in humans.

摘要

近交129品系小鼠易患睾丸男性生殖细胞肿瘤（GCT）。129小鼠品系中导致男性GCT易感性的内在遗传缺陷尚不清楚。在缺乏功能性p53蛋白的129品系雄性小鼠中，GCT发病率增加，我们利用这一发现促进了用于遗传图谱分析的携带GCT的杂交和回交小鼠品系的产生。在13号染色体上靠近D13Mit188的位置，已鉴定出一个与雄性GCT表型分离的129品系基因座，命名为pgct1。小鼠13号染色体的这一区域可能与人类5号染色体q臂的一部分同源，该区域与人类男性GCT易感性有关。

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