Alternative titles; symbols
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 7q21.12 | {Colchicine resistance} | 120080 | 3 | ABCB1 | 171050 |
A number sign (#) is used with this entry because mutation in the ABCB1 gene (171050) has been found to cause colchicine resistance.
Chamla et al. (1980) described variants of human cells with altered colchicine sensitivity. These cell lines showed cross-resistance to daunomycin, emetine, vinblastine, and vincristine, and collateral sensitivity to xylocaine. Colchicine-resistant mutants of Chinese hamster ovary (CHO) cells have been found to have a change in the entry of drugs into cells, altered binding of colchicine to its intracellular target, or an altered tubulin. Chamla and Begueret (1982) showed that the 'defect' was one of decreased permeability to the drug.
Chamla, Y., Begueret, J. Colchicine resistance in human cell lines: pleiotropic phenotype and decreased membrane permeability. Hum. Genet. 61: 73-75, 1982. [PubMed: 7129432] [Full Text: https://doi.org/10.1007/BF00291339]
Chamla, Y., Roumy, M., Lassegues, M., Battin, J. Altered sensitivity to colchicine and PHA in human cultured cells. Hum. Genet. 53: 249-253, 1980. [PubMed: 7188928] [Full Text: https://doi.org/10.1007/BF00273506]