In relation to the article "Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases" by Bogerhausen et al. Response

被引:0
作者
Boegershausen, N. [1 ,2 ,3 ]
Bruford, E. [4 ]
Wollnik, B. [1 ,2 ,3 ]
机构
[1] Univ Cologne, Inst Human Genet, D-50931 Cologne, Germany
[2] Univ Cologne, CMMC, D-50931 Cologne, Germany
[3] Univ Cologne, Cologne Excellence Cluster Cellular Stress Respon, D-50931 Cologne, Germany
[4] European Bioinformat Inst EMBL EBI, HUGO Gene Nomenclature Comm HGNC, Hinxton, Cambs, England
关键词
TRITHORAX-GROUP PROTEIN; HISTONE H3; METHYLATION; ASH1;
D O I
10.1111/cge.12099
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
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).
引用
收藏
页码:296 / 296
页数:1
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