Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia.

J. A. Hubacek, K. E. Berge, J. C. Cohen, H. H. Hobbs

Research output: Contribution to journalArticle

126 Citations (Scopus)

Abstract

Sitosterolemia is an autosomal recessive disorder caused by mutations in two adjacent genes encoding coordinately regulated ATP binding cassette (ABC) half transporters (ABCG5 and ABCG8). In this paper we describe three novel mutations causing sitosterolemia: 1) a frameshift mutation (c.336-337insA) in ABCG5 that results in premature termination of the protein at amino acid 197; 2) a missense mutation that changes a conserved residue c.1311C>G; N437K) in ABCG5 and 3) a splice site mutation in ABCG8 (IVS1-2A>G). This study expands the spectrum of the ABCG5 and ABCG8 mutations that cause sitosterolemia. Nine nonsynonymous polymorphisms are also reported: I523V, C600Y, Q604E, and M622V in ABCG5; and D19H, Y54C, T400K, A632V, and Y641F in ABCG8.

Original languageEnglish (US)
Pages (from-to)359-360
Number of pages2
JournalHuman Mutation
Volume18
Issue number4
StatePublished - Oct 2001

Fingerprint

Carrier Proteins
Adenosine Triphosphate
Mutation
RNA Splice Sites
Frameshift Mutation
ATP-Binding Cassette Transporters
Missense Mutation
Amino Acids
Sitosterolemia
Genes
Proteins

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia. / Hubacek, J. A.; Berge, K. E.; Cohen, J. C.; Hobbs, H. H.

In: Human Mutation, Vol. 18, No. 4, 10.2001, p. 359-360.

Research output: Contribution to journalArticle

@article{9169d06d9e21414bbb05bca6e3db8e88,
title = "Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia.",
abstract = "Sitosterolemia is an autosomal recessive disorder caused by mutations in two adjacent genes encoding coordinately regulated ATP binding cassette (ABC) half transporters (ABCG5 and ABCG8). In this paper we describe three novel mutations causing sitosterolemia: 1) a frameshift mutation (c.336-337insA) in ABCG5 that results in premature termination of the protein at amino acid 197; 2) a missense mutation that changes a conserved residue c.1311C>G; N437K) in ABCG5 and 3) a splice site mutation in ABCG8 (IVS1-2A>G). This study expands the spectrum of the ABCG5 and ABCG8 mutations that cause sitosterolemia. Nine nonsynonymous polymorphisms are also reported: I523V, C600Y, Q604E, and M622V in ABCG5; and D19H, Y54C, T400K, A632V, and Y641F in ABCG8.",
author = "Hubacek, {J. A.} and Berge, {K. E.} and Cohen, {J. C.} and Hobbs, {H. H.}",
year = "2001",
month = "10",
language = "English (US)",
volume = "18",
pages = "359--360",
journal = "Human Mutation",
issn = "1059-7794",
publisher = "Wiley-Liss Inc.",
number = "4",

}

TY - JOUR

T1 - Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia.

AU - Hubacek, J. A.

AU - Berge, K. E.

AU - Cohen, J. C.

AU - Hobbs, H. H.

PY - 2001/10

Y1 - 2001/10

N2 - Sitosterolemia is an autosomal recessive disorder caused by mutations in two adjacent genes encoding coordinately regulated ATP binding cassette (ABC) half transporters (ABCG5 and ABCG8). In this paper we describe three novel mutations causing sitosterolemia: 1) a frameshift mutation (c.336-337insA) in ABCG5 that results in premature termination of the protein at amino acid 197; 2) a missense mutation that changes a conserved residue c.1311C>G; N437K) in ABCG5 and 3) a splice site mutation in ABCG8 (IVS1-2A>G). This study expands the spectrum of the ABCG5 and ABCG8 mutations that cause sitosterolemia. Nine nonsynonymous polymorphisms are also reported: I523V, C600Y, Q604E, and M622V in ABCG5; and D19H, Y54C, T400K, A632V, and Y641F in ABCG8.

AB - Sitosterolemia is an autosomal recessive disorder caused by mutations in two adjacent genes encoding coordinately regulated ATP binding cassette (ABC) half transporters (ABCG5 and ABCG8). In this paper we describe three novel mutations causing sitosterolemia: 1) a frameshift mutation (c.336-337insA) in ABCG5 that results in premature termination of the protein at amino acid 197; 2) a missense mutation that changes a conserved residue c.1311C>G; N437K) in ABCG5 and 3) a splice site mutation in ABCG8 (IVS1-2A>G). This study expands the spectrum of the ABCG5 and ABCG8 mutations that cause sitosterolemia. Nine nonsynonymous polymorphisms are also reported: I523V, C600Y, Q604E, and M622V in ABCG5; and D19H, Y54C, T400K, A632V, and Y641F in ABCG8.

UR - http://www.scopus.com/inward/record.url?scp=0035491250&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0035491250&partnerID=8YFLogxK

M3 - Article

C2 - 11668628

AN - SCOPUS:0035491250

VL - 18

SP - 359

EP - 360

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 4

ER -