title: Somatic hypermutation of Ig genes in patients with xeroderma pigmentosum (XP-D).
abstract: Antibody diversification by somatic hypermutation occurs by the introduction of nucleotide substitutions in and around the rearranged Ig V gene segments. Several characteristics of the process suggest that the introduction of mutations is linked to Ig gene transcription. Since there is a connection between mutation and repair with indications that both processes might show linkage to transcription, we asked whether defects in a component of the transcription factor TFIIH which lead to an inability to carry out nucleotide excision repair also affect somatic hypermutation. A PCR strategy was devised that required small samples of peripheral blood and enabled us to monitor hypermutation of a single, abundantly used VH gene. However, the results showed that in xeroderma pigmentosum patients (complementation group D), somatic hypermutaton appears to take place unaffected as regard both extent and distribution.
authors.affiliation: MRC Laboratory of Molecular Biology, Cambridge, UK.
authors.forename: S D
authors.initials: SD
authors.lastname: Wagner
authors.forename: J G
authors.initials: JG
authors.lastname: Elvin
authors.forename: P
authors.initials: P
authors.lastname: Norris
authors.forename: J M
authors.initials: JM
authors.lastname: McGregor
authors.forename: M S
authors.initials: MS
authors.lastname: Neuberger
mesh_terms: D005803:Genes, Immunoglobulin / Q000235:genetics*; D006801:Humans; D007136:Immunoglobulins / Q000276:immunology; D009154:Mutation / Q000276:immunology*; D016133:Polymerase Chain Reaction; D014983:Xeroderma Pigmentosum / Q000235:genetics* / Q000276:immunology*
chemical_list: D007136:Immunoglobulins