PMID: 8450767Jan 1, 1993Paper

Molecular spectrum of background mutation at the hprt locus in human T-lymphocytes

Mutagenesis
S M HouB Andersson

Abstract

The molecular basis of somatic mutation at the hypoxanthine-guanine phosphoribosyl-transferase (hprt) locus in human 6-thioguanine resistant T-cell clones from 17 individuals has been studied by Southern blot analysis, multiplex PCR (polymerase chain reaction) and direct sequencing of PCR amplified hprt cDNAs or genomic DNA. Twenty-three novel mutations were detected, which in addition to previously described mutations provide a background mutational spectrum based on a total of 45 hprt mutations in human T-cells. Twenty T-cell mutants had base substitutions in the coding region leading to 15 missense and five nonsense mutations. In addition to five frameshift mutations caused by four small deletions and one duplication, seven splice mutations, three of them with skipping of exon 8, were detected. Thirteen genomic structural alterations have also been identified; one of these had a genomic exon 1 deletion with a GGCCGG-hexamer in both breakpoints.

Citations

Dec 1, 1995·Toxicology Letters·B LambertS M Hou
Nov 7, 1998·Mutation Research·C R Valentine
Jan 1, 1993·Environmental and Molecular Mutagenesis·C R GiverA J Grosovsky
Jan 1, 1995·Environmental and Molecular Mutagenesis·C R Valentine, R H Heflich
Jan 1, 1995·Environmental and Molecular Mutagenesis·S M HouA M Steen
Jan 1, 1995·Environmental and Molecular Mutagenesis·P R HarbachC S Aaron
Jan 1, 1994·Environmental and Molecular Mutagenesis·J C FuscoeM M Moore
Mar 1, 1996·Medical Hypotheses·J Linsenmeier
Jan 1, 1997·Environmental and Molecular Mutagenesis·A D da Cruz, B W Glickman
Jan 1, 1997·Environmental and Molecular Mutagenesis·D MeydanD Hellgren
Jan 1, 1996·Environmental and Molecular Mutagenesis·A PodlutskyB Lambert

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