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Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases

机译:避开陷阱:H3K4甲基转移酶的明确命名法

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摘要

To unravel the system of epigenetic control of transcriptional regulation is a fascinating and important scientific pursuit. Surprisingly, recent successes in gene identification using high-throughput sequencing strategies showed that, despite their ubiquitous role in transcriptional control, dysfunction of chromatin-modifying enzymes can cause very specific human developmental phenotypes. An intriguing example is the identification of de novo dominant mutations in MLL2 as a cause of Kabuki syndrome, a well-known congenital syndrome that is associated with a very recognizable facial gestalt. However, the existing confusion in the nomenclature of the human and mouse MLL gene family impedes correct interpretation of scientific findings for these genes and their encoded proteins. This Review aims to point out this nomenclature pitfall, to explain its historical background, and to promote an unequivocal nomenclature system for chromatin-modifying enzymes as proposed by Allis et al. (2007).Conflict of interestThe authors declare no conflict of interest
机译:揭示转录调控的表观遗传控制系统是一项有趣而重要的科学追求。令人惊讶的是,使用高通量测序策略进行基因鉴定的最新成功表明,尽管它们在转录控制中无处不在,但染色质修饰酶的功能障碍仍会引起非常特殊的人类发育表型。一个引人入胜的例子是鉴定出MLL2的从头显性突变是引起歌舞uki综合症的原因,歌舞uki综合症是一种众所周知的先天性综合症,与面部畸形非常相关。但是,人类和小鼠MLL基因家族的命名法存在混淆,妨碍了对这些基因及其编码蛋白的科学发现的正确解释。这篇综述旨在指出这种命名法的陷阱,解释其历史背景,并促进由Allis等人提出的用于染色质修饰酶的明确命名系统。 (2007)。利益冲突作者声明没有利益冲突

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