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

Authors

  • N Bögershausen,

    1. Institute of Human Genetics
    2. Center for Molecular Medicine Cologne (CMMC)
    3. Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany
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  • E Bruford,

    1. HUGO Gene Nomenclature Committee (HGNC), European Bioinformatics Institute (EMBL-EBI), Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, UK
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  • B Wollnik

    Corresponding author
    1. Institute of Human Genetics
    2. Center for Molecular Medicine Cologne (CMMC)
    3. Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany
    • Corresponding author: Prof. Bernd

      Wollnik, MD, Institute of Human

      Genetics and Center for Molecular

      Medicine Cologne (CMMC), University

      Medical Faculty, University of Cologne,

      Kerpener Str. 34, 50931 Cologne, Germany.

      Tel.: +49 221 478 86817;

      fax: +49 221 478 86812;

      e-mail: bwollnik@uni-koeln.de

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  • The authors declare no conflict of interest

Abstract

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).

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