ATP‐binding Cassette (ABC) Transporter Supergene Family: Genetics and Evolution

Abstract

The adenosine triphosphate (ATP)‐binding cassette (ABC) genes encode transporters that are expressed on the cell membrane or organelle membranes and are involved in the export of substances out of the cell or the movement of compounds inside the cell. Many ABC genes are mutated in human diseases or have a role in drug resistance to cancer chemotherapy.

Keywords: ATP‐binding cassette; drug resistance; genetic disease; cystic fibrosis; transport; evolution

References

Allikmets R (2000) Simple and complex ABCR: genetic predisposition to retinal disease. American Journal of Human Genetics 67: 793–799.

Annilo T, Chen ZQ, Shulenin S et al. (2006) Evolution of the vertebrate ABC gene family: analysis of gene birth and death. Genomics 88: 1–11.

Borst P, Evers R, Kool M and Wijnholds J (2000) A family of drug transporters: the multidrug resistance‐associated proteins. Journal of the National Cancer Institute 92: 1295–1302.

Dean M and Allikmets R (1995) Evolution of ATP‐binding cassette transporter genes. Current Opinion in Genetics & Development 5: 779–785.

Dean M, Rzhetsky A and Allikmets R (2001) The human ATP‐binding cassette (ABC) transporter superfamily. Genome Research 11: 1156–1166.

Gottesman MM, Fojo T and Bates SE (2002) Multidrug resistance in cancer: role of ATP‐dependent transporters. Nature Reviews. Cancer 2: 48–58.

Higgins CF (1992) ABC transporters: from micro‐organisms to man. Annual Reviews in Cell Biology 8: 67–113.

Hvorup RN, Goetz BA, Niederer M et al. (2007) Asymmetry in the Structure of the ABC Transporter Binding Protein Complex BtuCD‐BtuF. Science 317(5843): 1387–1390.

Kolaczkowski M and Goffeau A (1997) Active efflux by multidrug transporters as one of the strategies to evade chemotherapy and novel practical implications of yeast pleiotropic drug resistance. Pharmacology and Therapeutics 76: 219–242.

Lewis RA, Shroyer NF, Singh N et al. (1999) Genotype/phenotype analysis of a photoreceptor‐specific ATP‐binding cassette transporter gene, ABCR, in Stargardt disease. American Journal of Human Genetics 64: 422–434.

Miyake K, Mickley L, Litman T et al. (1999) Molecular cloning of cDNAs which are highly overexpressed in mitoxantrone‐resistant cells: demonstration of homology to ABC transport genes. Cancer Research 59: 8–13.

Pier GB, Grout M, Zaidi T et al. (1998) Salmonella typhi uses CFTR to enter intestinal epithelial cells. Nature 393: 79–82.

Shulenin S, Nogee LM, Annilo T et al. (2004) ABCA3 gene mutations in newborns with fatal surfactant deficiency. The New England Journal of Medicine 350: 1296–1303.

Further Reading

Ambudkar SV and Gottesman MM (1998) ABC transporters: biochemical, cellular, and molecular aspects. Methods in Enzymology 292: 1–853.

Annilo T, Chen ZQ, Shulenin S et al. (2006) Evolution of the vertebrate ABC gene family: analysis of gene birth and death. Genomics 88: 1–11.

Dean M and Annilo T (2005) Evolution of the ATP‐binding cassette (ABC) transporter superfamily in vertebrates. Annual Review of Genomics and Human Genetics 6: 123–142.

Decottignies A and Goffeau A (1997) Complete inventory of the yeast ABC proteins. Nature Genetics 15: 137–145.

Hodson ME and Geddes DM (2000) Cystic Fibrosis. New York: Oxford University Press.

Li G, Shi P and Wang Y (2007) Evolutionary dynamics of the ABCA chromosome 17q24 cluster genes in vertebrates. Genomics 89: 385–391.

Web Links

ATP‐binding cassette, sub‐family A (ABC1), member 4 (ABCA4); LocusID: 24. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=24

ATP‐binding cassette, sub‐family A (ABC1), member 4 (ABCA4); MIM number: 601691. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?601691

ATP‐binding cassette, sub‐family B (MDR/TAP), member 1 (ABCB1); LocusID: 5243. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=5243

ATP‐binding cassette, sub‐family B (MDR/TAP), member 1 (ABCB1); MIM number: 171050. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?171050

ATP‐binding cassette, sub‐family C (CFTR/MRP), member 4 (CFTR); LocusID: 1080. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=1080

ATP‐binding cassette, sub‐family C (CFTR/MRP), member 4 (CFTR); MIM number: 602421. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?602421

ATP‐binding cassette, sub‐family D (ALD), member 1 (ABCD1); LocusID: 215. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=215

ATP‐binding cassette, sub‐family D (ALD), member 1 (ABCD1); MIM number: 300100. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?300100

ATP‐binding cassette, sub‐family G (WHITE), member 5 (sterolin 1) (ABCG5); LocusID: 64240. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=64240

ATP‐binding cassette, sub‐family G (WHITE), member 5 (sterolin 1) (ABCG5); MIM number: 605459. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?605459

HGNC ABC Gene Family Nomenclature. HUGO gene nomenclature committe page on ABC genes http://www.genenames.org/genefamily.html

48 Human ATP‐Binding Cassette Transporters. Part of a transporter gene website with links to other websites, review articles and information http://nutrigene.4t.com/humanabc.htm

Monograph. The Human ATP‐Binding cassette (ABC) transporter superfamily. This is an online monograph on ABC genes with links to other databases and references http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.view.ShowTOC&rid=mono_001.TOC&depth=2

Online Mendelian Inheritance in Man (OMIM) http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM

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How to Cite close
Dean, Michael(Jul 2008) ATP‐binding Cassette (ABC) Transporter Supergene Family: Genetics and Evolution. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0006132.pub2]