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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Blackwell Publishing Ltd
2013
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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 |
format | Online Article Text |
id | pubmed-3597981 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Blackwell Publishing Ltd |
record_format | MEDLINE/PubMed |
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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