title: Evolution of ABC transporters by gene duplication and their role in human disease.
abstract: The ATP-binding cassette (ABC) transporter genes represent the largest family of transporters and these genes are abundant in the genome of all vertebrates. Through analysis of the genome sequence databases we have characterized the full complement of ABC genes from several mammals and other vertebrates. Multiple gene duplication and deletion events were identified in ABC genes in different lineages indicating that the process of gene evolution is still ongoing. Gene duplication resulting in either gene birth or gene death plays a major role in the evolution of the vertebrate ABC genes. The understanding of this mechanism is important in the context of human health because these ABC genes are associated with human disease, involving nearly all organ systems of the body. In addition, ABC genes play an important role in the development of drug resistance in cancer cells. Future genetic, functional, and evolutionary studies of ABC transporters will provide important insight into human and animal biology.
authors.affiliation: Laboratory of Experimental Immunology, Human Genetics Section, Cancer and Inflammation Program, National Cancer Institute at Frederick, Frederick, MD 21702, USA.
authors.forename: Karobi
authors.initials: K
authors.lastname: Moitra
authors.forename: Michael
authors.initials: M
authors.lastname: Dean
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics* / Q000378:metabolism*; D000818:Animals; D004194:Disease; D019143:Evolution, Molecular; D020440:Gene Duplication; D006801:Humans
chemical_list: D018528:ATP-Binding Cassette Transporters