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Titolo:
Two new genes from the human ATP-binding cassette transporter superfamily,ABCC11 and ABCC12, tandemly duplicated on chromosome 16q12
Autore:
Tammur, J; Prades, C; Arnould, I; Rzhetsky, A; Hutchinson, A; Adachi, M; Schuetz, JD; Swoboda, KJ; Ptacek, LJ; Rosier, M; Dean, M; Allikmets, R;
Indirizzi:
Columbia Univ, Dept Ophthalmol, New York, NY 10032 USA Columbia Univ New York NY USA 10032 pt Ophthalmol, New York, NY 10032 USA Univ Tartu, Inst Mol & Cell Biol, Dept Biotechnol, EE-50090 Tartu, EstoniaUniv Tartu Tartu Estonia EE-50090 pt Biotechnol, EE-50090 Tartu, Estonia Aventis Pharma, Funct Genom Dept, Paris, France Aventis Pharma Paris France tis Pharma, Funct Genom Dept, Paris, France Columbia Univ, Columbia Genome Ctr, New York, NY 10032 USA Columbia Univ New York NY USA 10032 ia Genome Ctr, New York, NY 10032 USA St Jude Childrens Hosp, Dept Pharmacol Sci, Memphis, TN 38105 USA St Jude Childrens Hosp Memphis TN USA 38105 ol Sci, Memphis, TN 38105 USA Univ Utah, Sch Med, Dept Neurol, Salt Lake City, UT USA Univ Utah Salt Lake City UT USA Med, Dept Neurol, Salt Lake City, UT USA Univ Utah, Sch Med, Dept Pediat, Salt Lake City, UT USA Univ Utah Salt Lake City UT USA Med, Dept Pediat, Salt Lake City, UT USA Univ Utah, Sch Med, Dept Human Genet, Salt Lake City, UT USA Univ Utah Salt Lake City UT USA Dept Human Genet, Salt Lake City, UT USA Univ Utah, Sch Med, Howard Hughes Med Inst, Salt Lake City, UT USA Univ Utah Salt Lake City UT USA Hughes Med Inst, Salt Lake City, UT USA NCI, Lab Genom Divers, FCRDC, Frederick, MD USA NCI Frederick MD USANCI, Lab Genom Divers, FCRDC, Frederick, MD USA Columbia Univ, Dept Pathol, New York, NY 10032 USA Columbia Univ New YorkNY USA 10032 , Dept Pathol, New York, NY 10032 USA
Titolo Testata:
GENE
fascicolo: 1, volume: 273, anno: 2001,
pagine: 89 - 96
SICI:
0378-1119(20010725)273:1<89:TNGFTH>2.0.ZU;2-Z
Fonte:
ISI
Lingua:
ENG
Soggetto:
PAROXYSMAL KINESIGENIC DYSKINESIA; CAUSE PSEUDOXANTHOMA ELASTICUM; MULTIDRUG-RESISTANCE PROTEIN; INFANTILE CONVULSIONS; CYSTIC-FIBROSIS; MUTATIONS; 9-(2-PHOSPHONYLMETHOXYETHYL)ADENINE; LINKAGE; FAMILY; LOCUS;
Keywords:
ATP-binding cassette transporters; mapping; paroxysmal kinesigenic choreoathetosis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
30
Recensione:
Indirizzi per estratti:
Indirizzo: Allikmets, R Columbia Univ, Dept Ophthalmol, Eye Res Addit,Room 715,630 W 168th St, NewYork, NY 10032 USA Columbia Univ Eye Res Addit,Room 715,630 W 168th St New York NY USA 10032
Citazione:
J. Tammur et al., "Two new genes from the human ATP-binding cassette transporter superfamily,ABCC11 and ABCC12, tandemly duplicated on chromosome 16q12", GENE, 273(1), 2001, pp. 89-96

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 hyperinsulinemichypoglycemia 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. (C) 2001 Elsevier Science B.V. All rights reserved.

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Documento generato il 01/04/20 alle ore 02:22:03