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Spectrum of spontaneous HPRT mutations in TK6 human lymphoblasts
Author(s) -
Giver Cynthia R.,
Nelson Stephen L.,
Grosovsky Andrew J.
Publication year - 1993
Publication title -
environmental and molecular mutagenesis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 87
eISSN - 1098-2280
pISSN - 0893-6692
DOI - 10.1002/em.2850220305
Subject(s) - hypoxanthine guanine phosphoribosyltransferase , mutant , biology , genetics , exon , microbiology and biotechnology , mutation , gene duplication , transition (genetics) , lymphoblast , coding region , gene , cell culture
Abstract The occurrence of deletions, coding sequence alterations, and intronic changes leading to aberrant splicing has been characterized among 33 spontaneous HPRT − mutants in TK6 human lymphoblasts. Deletions detectable by multiplex PCR amplification accounted for 45% (15/33) of the mutant collection. Base substitutions represented 30% (10/33) of the total, and were predominated by changes at G:C base pairs. The remaining mutants were distributed among frameshifts (9%, 3/33), small deletions (6%, 2/33), and compound alterations (9%, 3/33). Five mutants (15%) demonstrated aberrant splicing of the hprt transcript. A cluster of 4 deletion/insertion events was identified in hprt exon 6. A nearly perfect 13 bp duplication differed from the original sequence only by an A:T to G:C transition, which was observed as a unique alteration in another HPRT − mutant. A model involving correction of a mismatch in a secondary structure formed by the duplicated sequence may account for these results. © 1993 Wiley‐Liss, Inc.