ASH1L (a histone methyltransferase protein) is a novel candidate globin gene regulator revealed by genetic study of an English family with beta-thalassaemia unlinked to the beta-globin locus
ASH1L (a histone methyltransferase protein) is a novel candidate globin gene regulator revealed by genetic study of an English family with beta-thalassaemia unlinked to the beta-globin locus
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DOI：
10.1111/bjh.14256
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发表时间：
2016-11-01
影响因子：
6.5
通讯作者：
Thein, Swee Lay
中科院分区：
文献类型：
--
作者：
Breton, Amandine;Theodorou, Andria;Thein, Swee Lay
在1993年，我们描述了一个英国家庭与β地中海贫血是不联系的β珠蛋白基因座。全基因组序列分析揭示了15个不同基因中的潜在致病突变，其中4个与所有7个受影响家庭成员的表型一致且独特相关，这也得到了遗传连锁分析的证实。在存在于1号染色体的着丝粒区域的4个基因中，通过在人红系祖细胞中的功能性mRNA敲低和染色质免疫沉淀研究，提出ASH1L为致病基因。我们的数据表明，ASH1L（三胸蛋白）在珠蛋白基因的调节中的假定作用。
In 1993, we described an English family with beta-thalassaemia that was not linked to the beta-globin locus. Whole genome sequence analyses revealed potential causative mutations in 15 different genes, of which 4 were consistently and uniquely associated with the phenotype in all 7 affected family members, also confirmed by genetic linkage analysis. Of the 4 genes, which are present in a centromeric region of chromosome 1, ASH1L was proposed as causative through functional mRNA knock-down and chromatin-immunoprecipitation studies in human erythroid progenitor cells. Our data suggest a putative role for ASH1L (Trithorax protein) in the regulation of globin genes.