对Mom-1的遗传鉴定,这是影响小鼠Min诱导肠道瘤的主要修饰器位
W F Dietrich1, E S Lander, J S Smith
1Whitehead Institute for Biomedical Research, Massachusetts Institute of Technology, Cambridge 02142.
Cell
|November 19, 1993
概括
遗传背景显著影响家族结肠癌的发展. 一个主要的修饰基因,Mom-1,在染色体4影响瘤的数量在多发性肠瘤 (Min) 鼠标模型,提供了对人类癌症综合征的见解.
科学领域:
- 遗传学 是一个遗传学.
- 癌症生物学 癌症生物学
- 基因组医学是基因组医学.
背景情况:
- 人类腺多样性肠杆菌 (APC) 基因的突变与家族性结肠癌综合征有关.
- 多发性肠瘤 (Min) 鼠标模型,具有突变的 Apc 基因,自发地发展肠腺瘤,成为研究结肠癌的宝贵工具.
- 众所周知,遗传背景会影响瘤的发展,但特定的修饰基因在很大程度上仍未被描述.
研究的目的:
- 在Min小鼠模型中识别和基因绘制影响瘤发育的主要修饰器位点.
- 研究遗传背景在调节遗传性癌症综合征的表型中的作用.
- 探索与癌症发展相关的小鼠和人类染色体之间的潜在保护区域.
主要方法:
- 利用Min/+小鼠的内属背十字来进行遗传映射.
- 采用定量特征位置 (QTL) 分析来识别修饰物位置.
- 计算了LOD分数,以评估映射结果的统计意义.
主要成果:
- 在鼠标远端染色体4上确定了一个主要的修饰器位点,被指定为Mom-1 (Min-1的修饰器).
- 在Min/+小鼠中,Mom-1约占肠道瘤数量的遗传变异的50%.
- 确定的位点Mom-1位于人类染色体1p35-36的合成区域,该区域经常与人类瘤中异构性丧失有关.
结论:
- 一个主要的基因修饰剂,Mom-1,在Min小鼠模型中显著影响着遗传性结肠癌倾向的表达.
- 鉴定Mom-1为了解导致结肠癌变异性的遗传因素提供了一个新的目标.
- 保存的合成表明Mom-1及其人类染色体区域在人类结肠癌的病因学中的潜在相关性.
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