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

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, dysfun...

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Detalles Bibliográficos
Autores principales: Bögershausen, N, Bruford, E, Wollnik, B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3597981/
https://www.ncbi.nlm.nih.gov/pubmed/23130995
http://dx.doi.org/10.1111/cge.12050
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author Bögershausen, N
Bruford, E
Wollnik, B
author_facet Bögershausen, N
Bruford, E
Wollnik, B
author_sort Bögershausen, N
collection PubMed
description 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 INTEREST: The authors declare no conflict of interest
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spelling pubmed-35979812013-03-19 Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases Bögershausen, N Bruford, E Wollnik, B Clin Genet Reviews 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 INTEREST: The authors declare no conflict of interest Blackwell Publishing Ltd 2013-03 2012-11-27 /pmc/articles/PMC3597981/ /pubmed/23130995 http://dx.doi.org/10.1111/cge.12050 Text en © 2013 John Wiley & Sons A/S http://creativecommons.org/licenses/by/2.5/ Re-use of this article is permitted in accordance with the Creative Commons Deed, Attribution 2.5, which does not permit commercial exploitation.
spellingShingle Reviews
Bögershausen, N
Bruford, E
Wollnik, B
Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases
title Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases
title_full Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases
title_fullStr Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases
title_full_unstemmed Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases
title_short Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases
title_sort skirting the pitfalls: a clear-cut nomenclature for h3k4 methyltransferases
topic Reviews
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3597981/
https://www.ncbi.nlm.nih.gov/pubmed/23130995
http://dx.doi.org/10.1111/cge.12050
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