First report of a genetic polymorphism of the cytochrome P450 3A43 (CYP3A43) gene: identification of a loss-of-function variant.

Christelle Cauffiez, Jean Marc Lo-Guidice, Dany Chevalier, Delphine Allorge, Rima Hamdan, Michel Lhermitte, Jean Jacques Lafitte, Jean Frédéric Colombel, Christian Libersa, Franck Broly

Research output: Contribution to journalArticlepeer-review

23 Scopus citations

Abstract

In the present study, we report the first investigation of polymorphisms in the human CYP3A43 gene. A screening for sequence variations in the 5'-flanking and protein coding regions of the CYP3A43 gene was performed by a Polymerase Chain Reaction - Single Strand Conformational Polymorphism (PCR-SSCP) strategy, using DNA samples from 48 unrelated French individuals. Three polymorphisms in the coding region were identified, comprising two nucleotide substitutions, one silent (c.1047C>T) and one missense mutation (c.1018C>G/P340A), and a frame shift mutation (c.74delA), leading to a premature stop codon and, presumably, to a severely truncated protein. In order to evaluate the extent of the frame shift mutation in a larger population, 352 individuals were further genotyped. Thirty-four samples (4.83%) were found to be heterozygous and one homozygous (0.14%) for the nucleotide deletion, which suggests that, although the potential significance of this polymorphism remains to be further evaluated, some individuals are deficient for CYP3A43 activity.

Original languageEnglish
Pages (from-to)101
Number of pages1
JournalHuman Mutation
Volume23
Issue number1
DOIs
StatePublished - Jan 2004
Externally publishedYes

Fingerprint

Dive into the research topics of 'First report of a genetic polymorphism of the cytochrome P450 3A43 (CYP3A43) gene: identification of a loss-of-function variant.'. Together they form a unique fingerprint.

Cite this