ABCMdb

PMID: 15864128

Hulot JS, Villard E, Maguy A, Morel V, Mir L, Tostivint I, William-Faltaos D, Fernandez C, Hatem S, Deray G, Komajda M, Leblond V, Lechat P
A mutation in the drug transporter gene ABCC2 associated with impaired methotrexate elimination.
Pharmacogenet Genomics. 2005 May;15(5):277-85., [PubMed]

Sentences

No. Mutations Sentence Comment

60 ABCC2 p.Arg768Trp ABCC2 p.Arg412Gly Mutations (R412G and a positive control mutation R768W) were inserted into the wild-type pcDNA3.1/ MRP2 by using the QuickChange site-directed mutagenesis kit (Stratagene, La Jolla, California, USA). Login to comment 101 ABCC2 p.Arg412Gly Mutation identification Direct sequencing of PCR-amplified ABCC2 exon 10 led to the identification of a heterozygous A > G substitution at position 1271 (Genbank accession number NM_000392) replacing an arginine with a glycine at position 412 of the MRP2 protein sequence (Fig. 3a). Login to comment 110 ABCC2 p.Arg412Gly (b) Results of a restriction-fragment-length polymorphism assay for the detection of the R412G mutation in wild-type subjects (lane 1) and in the index case (lane 2). Login to comment 112 ABCC2 p.Arg412Gly The R412G mutation is indicated by a black arrow. The 17 transmembrane helices (TM) are represented by numbered black boxes. Login to comment 144 ABCC2 p.Arg412Gly To date, more than 15 ABCC2 gene mutations have been reported in Dubin-Johnson syndrome patients [5-7,34,35], but the mutation (R412G) found in our patient was new. Login to comment 154 ABCC2 p.Arg412Gly Finally, the R412G mutation was present in the heterozygous state in our Dubin-Johnson syndrome patient, suggesting a co-dominant expression of the mutated allele. Login to comment