Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency

Angela Brooks-Wilson, Michel Marcil, Susanne M. Clee, Lin Hua Zhang, Kirsten Roomp, Marjel Van Dam, Lu Yu, Carl Brewer, Jennifer A. Collins, Henri O.F. Molhuizen, Odell Loubser, B. F.Francis Ouelette, Keith Fichter, Katherine J.D. Ashbourne-Excoffon, Christoph W. Sensen, Stephen Scherer, Stephanie Mott, Maxime Denis, Duane Martindale, Jiri FrohlichKenneth Morgan, Ben Koop, Simon Pimstone, John J.P. Kastelein, Jacques Genest, Michael R. Hayden*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

1463 Citations (Scopus)

Abstract

Genes have a major role in the control of high-density lipoprotein (HDL) cholesterol (HDL-C) levels. Here we have identified two Tangier disease (TD) families, confirmed 9q31 linkage and refined the disease locus to a limited genomic region containing the gene encoding the ATP-binding cassette transporter (ABC1). Familial HDL deficiency (FHA) is a more frequent cause of low HDL levels. On the basis of independent linkage and meiotic recombinants, we localized the FHA locus to the same genomic region as the TD locus. Mutations in ABC1 were detected in both TD and FHA, indicating that TD and FHA are allelic. This indicates that the protein encoded by ABC1 is a key gatekeeper influencing intracellular cholesterol transport, hence we have named it cholesterol efflux regulatory protein (CERP).

Original languageEnglish
Pages (from-to)336-345
Number of pages10
JournalNature Genetics
Volume22
Issue number4
DOIs
Publication statusPublished - Aug 1999
Externally publishedYes

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