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在小鼠中针对9p21非编码冠状动脉疾病风险区间的有针对性的删除
Axel Visel1, Yiwen Zhu, Dalit May
1Genomics Division, MS 84-171, Lawrence Berkeley National Laboratory, Berkeley, California 94720, USA.
Nature
|February 23, 2010
概括
染色体9p21附近的遗传变异显著增加冠状动脉疾病 (CAD) 的风险. 这项研究表明,非编码DNA区域调节附近的基因,影响血管细胞生长和CAD发育.
科学领域:
- 遗传学 是一个遗传学.
- 心血管疾病研究研究
- 分子生物学分子生物学
背景情况:
- 在染色体9p21上的58基基 (kb) 间隔中的序列多态性与冠状动脉疾病 (CAD) 风险的增加密切相关.
- 这一CAD风险区域缺乏蛋白质编码基因,不清楚疾病关联的潜在机制.
研究的目的:
- 为了研究小鼠染色体4上非编码的70kb间隔的功能作用,与人类的9p21 CAD风险区域相对应.
- 为了确定这个非编码区域是否影响心脏基因表达和血管细胞增殖.
主要方法:
- 在小鼠中删除70kb非编码区间 (chr4(Delta70kb/Delta70kb)).
- 在突变小鼠中分析心脏基因表达 (Cdkn2a,Cdkn2b).
- 在初级细胞培养物中评估血管细胞增殖和衰老.
主要成果:
- chr4 ((Delta70kb/Delta70kb) 的小鼠表现出Cdkn2a和Cdkn2b的心脏表达减少,这表明在删除的间隔内具有 cis 作用的调节功能.
- 来自突变小鼠的血管光滑肌细胞显示过度增殖和衰老减少.
- 突变小鼠在发育和成年期间死亡率增加.
结论:
- 非编码的CAD风险区间在调节心脏Cdkn2a/b表达方面发挥着至关重要的作用.
- 这一区域通过改变血管细胞增殖动态来影响CAD的发病.
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