The Journal of Experimental Medicine
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© The Rockefeller University Press, 0022-1007/1997/8/413/ $5.00
The Journal of Experimental Medicine, Volume 186, Number 3, August 4, 1997 413-419

Articles

B Lymphocytes of Xeroderma Pigmentosum or Cockayne Syndrome Patients with Inherited Defects in Nucleotide Excision Repair Are Fully Capable of Somatic Hypermutation of Immunoglobulin Genes

Nayun Kim*, Karen Kage{ddagger}, Fumihiko Matsuda§, Marie-Paule Lefranc||, and Ursula Storb{ddagger}

From the * Departments of Biochemistry and Molecular Biology; {ddagger} Departments of Molecular Genetics and Cell Biology, University of Chicago, Chicago, Illinois, 60637; § Center for Molecular Biology and Genetics, Kyoto University, Japan; || Laboratoire d'Immuno Génétique Moléculaire, Centre National de la Recherche Scientifique, UMR 5535, Université Montpellier, France

Recent experiments have strongly suggested that the process of somatic mutation is linked to transcription initiation. It was postulated that a mutator factor loads onto the RNA polymerase and, during elongation, causes transcriptional arrest that activates DNA repair, thus occasionally causing errors in the DNA sequence. We report the analysis of the role of one of the known DNA repair systems, nucleotide excision repair (NER), in somatic mutation. Epstein–Barrvirus-transformed B cells from patients with defects in NER (XP-B, XP-D, XP-V, and CS-A) were studied. Their heavy and light chain genes show a high frequency of point mutations in the variable (V), but not in the constant (C) regions. This suggests that these B cells can undergo somatic hypermutation despite significant defects in NER. Thus, it is doubtful that NER is an essential part of the mechanism of somatic hypermutation of Ig genes. As an aside, NER seems also not involved in Ig gene switch recombination.

Address correspondence to Ursula Storb, Department of Molecular Genetics and Cell Biology, University of Chicago, 920 East 58th Street, Chicago, Illinois 60637. Phone: 773-702-4440; FAX: 773-702-3172; E-mail: stor{at}midway.uchicago.edu

1 Abbreviations used in this paper: C, constant; CPD, cyclobutane pyrimidine dimers; CS, Cockayne syndrome; J, joining; NER, nucleotide excision repair; RACE, rapid amplification of cDNA ends; V, variable; XP, xeroderma pigmentogum.


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