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基因变异的BCL11A的红色激素增强剂决定了胎儿血红蛋白水平

Daniel E Bauer¹, Sophia C Kamran, Samuel Lessard

¹Division of Hematology/Oncology, Boston Children's Hospital, Boston, MA 02115, USA.

Science (New York, N.Y.)

|October 12, 2013

概括

在BCL11A附近的遗传变异通过调节基因表达来影响胎儿血红蛋白 (HbF) 水平. 这一监管要素为治疗β-hemoglobinopathies提供了一个潜在的目标.

科学领域:

遗传学是一个遗传学.
分子生物学分子生物学
基因组学就是基因组学.

背景情况:

全基因组关联研究 (GWAS) 确定与特征相关的常见遗传变异,通常在调节性DNA中.
BCL11A基因表达是至关重要的,与胎儿血红蛋白 (HbF) 水平有关.

研究的目的:

研究与HbF水平相关的BCL11A基因变异的功能作用.
探索特定的监管要素作为治疗目标的潜力.

主要方法:

用GWAS识别的变种的精细映射.
评估转录因子 (TF) 的结合和基因表达.
使用基因组工程对增强剂活性进行体内功能分析.
评估细胞类型的特异性 (红状腺与B型淋巴细胞).

主要成果:

发现了一种破坏TF结合基因的常见变异.
这种变异与BCL11A表达减少和HbF升高有关.
调节序列的功能是作为发展阶段特定的,受血统限制的增强剂.
增强剂对于BCL11A表达在红色素细胞中是必不可少的,但不是B淋巴细胞.

结论:

在关键的监管要素中,GWAS可以揭示具有适度影响的功能变体.
已识别的BCL11A增强剂是针对β-hemoglobinopathies的治疗基因组工程的一个有希望的目标.

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