title: Two new genes from the human ATP-binding cassette transporter superfamily, ABCC11 and ABCC12, tandemly duplicated on chromosome 16q12.
abstract: Several years ago, we initiated a long-term project of cloning new human ATP-binding cassette (ABC) transporters and linking them to various disease phenotypes. As one of the results of this project, we present two new members of the human ABCC subfamily, ABCC11 and ABCC12. These two new human ABC transporters were fully characterized and mapped to the human chromosome 16q12. With the addition of these two genes, the complete human ABCC subfamily has 12 identified members (ABCC1-12), nine from the multidrug resistance-like subgroup, two from the sulfonylurea receptor subgroup, and the CFTR gene. Phylogenetic analysis determined that ABCC11 and ABCC12 are derived by duplication, and are most closely related to the ABCC5 gene. Genetic variation in some ABCC subfamily members is associated with human inherited diseases, including cystic fibrosis (CFTR/ABCC7), Dubin-Johnson syndrome (ABCC2), pseudoxanthoma elasticum (ABCC6) and familial persistent hyperinsulinemic hypoglycemia of infancy (ABCC8). Since ABCC11 and ABCC12 were mapped to a region harboring gene(s) for paroxysmal kinesigenic choreoathetosis, the two genes represent positional candidates for this disorder.
authors.affiliation: Department of Biotechnology, Institute of Molecular and Cell Biology, Tartu University, Tartu, Estonia.
authors.forename: J
authors.initials: J
authors.lastname: Tammur
authors.forename: C
authors.initials: C
authors.lastname: Prades
authors.forename: I
authors.initials: I
authors.lastname: Arnould
authors.forename: A
authors.initials: A
authors.lastname: Rzhetsky
authors.forename: A
authors.initials: A
authors.lastname: Hutchinson
authors.forename: M
authors.initials: M
authors.lastname: Adachi
authors.forename: J D
authors.initials: JD
authors.lastname: Schuetz
authors.forename: K J
authors.initials: KJ
authors.lastname: Swoboda
authors.forename: L J
authors.initials: LJ
authors.lastname: Ptácek
authors.forename: M
authors.initials: M
authors.lastname: Rosier
authors.forename: M
authors.initials: M
authors.lastname: Dean
authors.forename: R
authors.initials: R
authors.lastname: Allikmets
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D002460:Cell Line; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16; D003001:Cloning, Molecular; D006801:Humans; D008969:Molecular Sequence Data; D000089762:Multidrug Resistance-Associated Protein 2; D010802:Phylogeny
chemical_list: C435500:ABCC11 protein, human; C435501:ABCC12 protein, human; C000715087:ABCC2 protein, human; D018528:ATP-Binding Cassette Transporters; D000089762:Multidrug Resistance-Associated Protein 2