GLI1 ACTB-GLI1

将刺猬通路成分基因gli1融合到β-肌动蛋白基因(actb)中被认为是gli1的机制,并通过扩展刺猬通路激活。这些融合已被描述在组织学上独特的软组织肿瘤显示一个周细胞表型。基因融合保留了gli1的DNA结合锌指结构域,用普遍表达的actb基因替换gli1的启动子区域可能导致对gli表达及其下游靶基因的调控异常。
Fusion of the hedgehog pathway component gene GLI1 to the β-actin gene (ACTB) has been described as a mechanism of GLI1,and by extension hedgehog pathway, activation. These fusions have been described in histologically distinctive soft tissue tumours showing a pericytic phenotype. Gene fusions retain the DNA-binding zinc finger domains of GLI1 and it is likely that the replacement of the promoter region of GLI1with that of the ubiquitously expressed ACTB gene leads to deregulation of GLI expression and its downstream target genes.

别名

T(7;12)(P21-22;Q13-15)
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突变位点

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基因序列