Detection of CYP3A5 allelic variant: a candidate for the polymorphic expression of the protein?

Article Details

Citation

Jounaidi Y, Hyrailles V, Gervot L, Maurel P

Detection of CYP3A5 allelic variant: a candidate for the polymorphic expression of the protein?

Biochem Biophys Res Commun. 1996 Apr 16;221(2):466-70.

PubMed ID
8619878 [ View in PubMed
]
Abstract

In liver samples from 19 Caucasian subjects, the CYP3A5 protein was detected in 74% of individuals (14/19), while the messenger was shown to be expressed in 100% of individuals, assessed by the RT-PCR method. In order to characterise the putative mutation(s) in the messenger, accounting for the absence of protein accumulation, the full coding region of the CYP3A5 cDNA was sequenced for two unrelated individuals, one expressing the protein at a high level and one being defective. A point mutation in exon 11 at position 1280 (C-->A) was found to cosegregate with the absence of protein accumulation in 2 of the 5 defective individuals. This mutation produces a change in the amino acid at position 398 (Thr-->Asn). Whether this mutation affects the stability of the protein or whether it is in linkage desequilibrium with other mutation(s) in the non-coding region of the messenger is not known. The C-->A change at 1280 generates a Tsp509 I site which can be used for routine evaluation of the frequency of this mutation in population studies.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Cytochrome P450 3A5P20815Details