NDLI: The histone methyltransferase MMSET regulates class switch recombination.

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The histone methyltransferase MMSET regulates class switch recombination.

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The histone methyltransferase MMSET regulates class switch recombination.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Wu, Xiaosheng Yu, Kefei Liu, Tongzheng Jelinek, Diane F. Pei, Huadong Lou, Zhenkun
Description	Country affiliation: United States Author Affiliation: Pei H ( Division of Oncology Research, Mayo Clinic, Rochester, MN 55905, USA.)
Abstract	Wolf-Hirschhorn syndrome (WHS) is a genetic disease with characteristic facial features and developmental disorders. Of interest, loss of the MMSET gene (also known as WHSC1) is considered to be responsible for the core phenotypes of this disease. Patients with WHS also display Ab deficiency, although the underlying cause of this deficiency is unclear. Recent studies suggest that the histone methyltransferase activity of MMSET plays an important role in the DNA damage response by facilitating the recruitment of 53BP1 to sites of DNA damage. We hypothesize that MMSET also regulates class switch recombination (CSR) through its effect on 53BP1. In this study, we show that MMSET indeed plays an important role in CSR through its histone methyltransferase activity. Knocking down MMSET expression impaired 53BP1 recruitment as well as the germline transcription of the Igh switch regions, resulting in defective CSR but no effect on cell growth and viability. These results suggest that defective CSR caused by MMSET deficiency could be a cause of Ab deficiency in WHS patients.
ISSN	00221767
e-ISSN	15506606
DOI	10.4049/jimmunol.1201811
Journal	The Journal of Immunology
Issue Number	2
Volume Number	190
Language	English
Publisher	The American Association of Immunologists
Publisher Date	2013-01-15
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Histone-lysine N-methyltransferase Metabolism Immunoglobulin Class Switching Genetics Repressor Proteins V(d)j Recombination Cell Line Gene Expression Regulation Genetic Loci Histones Immunoglobulin Heavy Chains Intracellular Signaling Peptides And Proteins Methylation Protein Binding Transcription, Genetic Wolf-hirschhorn Syndrome Research Support, N.i.h., Extramural Research Support, Non-u.s. Gov't Discipline Immunology
Content Type	Text
Resource Type	Article
Subject	Immunology and Allergy Immunology

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