在急性淋巴细胞白血病中,21号染色体的结构和体质重组
Yilong Li1, Claire Schwab2, Sarra Ryan2
1Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, UK.
Nature
|March 28, 2014
概括
一种罕见的15号和21号染色体转位显著增加了儿童急性淋巴细胞白血病 (ALL) 的风险. 这项研究揭示了一种新的染色体的机制,驱动了这些个体的iAMP21 ALL发展.
科学领域:
- 遗传学 是一个遗传学.
- 癌症生物学 癌症生物学
- 基因组学就是基因组学.
背景情况:
- 基因剂量改变是癌症发展的关键驱动因素.
- 儿童急性淋巴细胞白血病 (ALL) 可能涉及21号染色体 (iAMP21) 的放大.
- 罗伯茨的转位是罕见的染色体异常.
研究的目的:
- 调查iAMP21 ALL背后的进化机制.
- 为了确定对iAMP21 ALL的遗传倾向.
- 为了阐明癌症中新的突变途径.
主要方法:
- 基因组,细胞遗传和转录分析.
- 进化重建的先进生物信息方法.
- 对宪法罗伯逊式转位的分析 rob(15;21)
主要成果:
- 患有rob{15;21) }{q10;q10) c的个体患有iAMP21 ALL的风险增加了2,700倍.
- 染色体涉到转位染色体的姐妹染色体,在这些情况下启动iAMP21.
- 断裂-融合-桥梁周期和染色体是零星iAMP21 ALL中的关键事件.
- 双中心染色体可能会导致染色体.
- 连续的突变过程形成了白血病潜力的大规模拷贝数概况.
结论:
- 罗伯茨逊转位rob{15;21) }{q10;q10) c代表了一种新的癌症倾向.
- 涉及二心染色体的染色体是iAMP21 ALL中新发现的一种机制.
- 癌症进化涉及协调,连续的突变过程,优化基因剂量以适应白血病.
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