The role of SMARCB1/INI1 in development of rhabdoid tumor.

The role of SMARCB1/INI1 in development of rhabdoid tumor.
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DOI:
10.4161/cbt.8.5.8019
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发表时间:
2009-03
影响因子:
3.6
通讯作者:
Biegel JA
Biegel JA
中科院分区:
医学3区
文献类型:
--
作者:
Roberts CW;Biegel JA

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横纹肌样瘤中突变基因的直系同源物首先在酵母中进行了研究,并在筛选不能发酵蔗糖的突变体时被鉴定出来。因此它被命名为蔗糖非发酵基因 5 (SNF5),随后被发现是 SWI/SNF 染色质重塑复合体的成员。该基因的人类直系同源物在筛选能够与人类免疫缺陷病毒整合酶蛋白相互作用的蛋白质时被鉴定出来,并被命名为 INtegrase Interactor 1 (INI1)。研究哺乳动物版本 Swi/Snf 复合物的研究人员认为,其功能可能与酵母复合物有所不同,因此建议将该复合物重命名为 Brg1/Brm 相关因子复合物,或 BAF 复合物。因此,基于其表观分子质量为 47 Kd,横纹肌样瘤基因被命名为 BAF47。最近,遗传命名委员会将 SWI/SNF 相关、基质相关、肌动蛋白依赖性染色质调节因子、B 亚科、成员 1 命名为 SMARCB1。这些名称中的每一个都在文献中广泛使用,我们自己将该基因称为 SNF5 (CWMR) 或 INI1 (JAB)。为了简化沟通,我们选择在这里使用官方 SMARCB1 术语。
The ortholog of the gene mutated in rhabdoid tumors was first studied in yeast where it was identified in a screen for mutants incapable of fermenting sucrose. It was thus given the name Sucrose Non-Fermenting gene number 5 (SNF5) and was subsequently found to be a member of the SWI/SNF chromatin remodeling complex. The human ortholog of the gene was identified in a screen for proteins capable of interacting with the integrase protein of the human immunodeficiency virus and was given the name INtegrase Interactor 1 (INI1). Investigators studying a mammalian version of the Swi/Snf complex felt that its function may have diverged somewhat from the yeast complex and thus proposed renaming the complex the Brg1/Brm Associated Factors complex, or BAF complex. The rhabdoid tumor gene was thus given the name BAF47 based upon its apparent molecular mass of 47 Kd. Most recently, the genetic nomenclature committee bestowed the name SMARCB1 for SWI/SNF related, Matrix associated, Actin dependent Regulator of Chromatin, subfamily B, member 1. Each of these names has been used extensively in the literature and we ourselves have referred to the gene as either SNF5 (CWMR) or INI1 (JAB). In an effort to simplify communication, we have chosen to use the official SMARCB1 nomenclature here.
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