An ATP-binding cassette gene (ABCG5) from the ABCG (White) gene subfamily maps to human chromosome 2p21 in the region of the Sitosterolemia locus

被引：19

作者：

Shulenin, S

Schriml, LM

Remaley, AT

Fojo, S

Brewer, B

Allikmets, R

Dean, M

机构：

[1] NCI Frederick, Lab Genom Divers, Frederick, MD 21702 USA

[2] NHLBI, Bethesda, MD 20892 USA

[3] Columbia Univ, Dept Ophthalmol, New York, NY 10027 USA

[4] Columbia Univ, Dept Pathol, New York, NY 10027 USA

来源：

CYTOGENETICS AND CELL GENETICS | 2001年 / 92卷 / 3-4期

关键词：

D O I：

10.1159/000056903

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

We characterized a new human ATP-binding cassette (ABC) transporter gene that is highly expressed in the liver. The gene, ABCG5, contains 13 exons and encodes a 651 amino acid protein. The predicted protein is closely related to the Drosophila white gene and a human gene, ABCG1, which is induced by cholesterol. This subfamily of genes all have a single ATP-binding domain at the N-terminus and a single C-terminal set of transmembrane segments. ABCG5 maps to human chromosome 2p21, between the markers D2S117 and D2S119. The abundant expression of this gene in the liver suggests that the protein product has an important role in transport of specific molecule(s) into or out of this tissue. Copyright (C) 2001 S. Karger AG, Basel.

引用

页码：204 / 208

页数：5

共 17 条

[1] Characterization of the human ABC superfamily: Isolation and mapping of 21 new genes using the expressed sequence tags database [J].

Allikmets, R ;

Gerrard, B ;

Hutchinson, A ;

Dean, M .

HUMAN MOLECULAR GENETICS, 1996, 5 (10) :1649-1655

[2] Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters [J].

Berge, KE ;

Tian, H ;

Graf, GA ;

Yu, LQ ;

Grishin, NV ;

Schultz, J ;

Kwiterovich, P ;

Shan, B ;

Barnes, R ;

Hobbs, HH .

SCIENCE, 2000, 290 (5497) :1771-1775

[3] The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease [J].

Bodzioch, M ;

Orsó, E ;

Klucken, T ;

Langmann, T ;

Böttcher, L ;

Diederich, W ;

Drobnik, W ;

Barlage, S ;

Büchler, C ;

Porsch-Özcürümez, M ;

Kaminski, WE ;

Hahmann, HW ;

Oette, K ;

Rothe, G ;

Aslanidis, C ;

Lackner, KJ ;

Schmitz, G .

NATURE GENETICS, 1999, 22 (04) :347-351

[4] Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency [J].

Brooks-Wilson, A ;

Marcil, M ;

Clee, SM ;

Zhang, LH ;

Roomp, K ;

van Dam, M ;

Yu, L ;

Brewer, C ;

Collins, JA ;

Molhuizen, HOF ;

Loubser, O ;

Ouelette, BFF ;

Fichter, K ;

Ashbourne-Excoffon, KJD ;

Sensen, CW ;

Scherer, S ;

Mott, S ;

Denis, M ;

Martindale, D ;

Frohlich, J ;

Morgan, K ;

Koop, B ;

Pimstone, S ;

Kastelein, JJP ;

Genest, J ;

Hayden, MR .

NATURE GENETICS, 1999, 22 (04) :336-345

[5]

DEAN M, 1995, CURR OPIN GENE DEV, V5, P79

[6] Complete inventory of the yeast ABC proteins [J].

Decottignies, A ;

Goffeau, A .

NATURE GENETICS, 1997, 15 (02) :137-145

[7] The sister of P-glycoprotein represents the canalicular bile salt export pump of mammalian liver [J].

Gerloff, T ;

Stieger, B ;

Hagenbuch, B ;

Madon, J ;

Landmann, L ;

Roth, J ;

Hofmann, AF ;

Meier, PJ .

JOURNAL OF BIOLOGICAL CHEMISTRY, 1998, 273 (16) :10046-10050

[8] ABCG1 (ABC8), the human homolog of the Drosophila white gene, is a regulator of macrophage cholesterol and phospholipid transport [J].

Klucken, J ;

Büchler, C ;

Orsó, E ;

Kaminski, WE ;

Porsch-Özcürümez, M ;

Liebisch, C ;

Kapinsky, M ;

Diederich, W ;

Drobnik, W ;

Dean, M ;

Allikmets, R ;

Schmitz, G .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2000, 97 (02) :817-822

[9] Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption [J].

Lee, MH ;

Lu, K ;

Hazard, S ;

Yu, HW ;

Shulenin, S ;

Hidaka, H ;

Kojima, H ;

Allikmets, R ;

Sakuma, N ;

Pegoraro, R ;

Srivastava, AK ;

Salen, G ;

Dean, M ;

Patel, SB .

NATURE GENETICS, 2001, 27 (01) :79-83

[10]

MICHAELIS S, 1995, COLD SPRING HARBOR S

← 1 2 →