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

Angela Brooks-Wilson; Michel Marcil; Susanne M. Clee; Lin-Hua Zang; Kirsten Roomp; Marjel van Dam; Lu Yu; Carl Brewer; Jennifer A. Collins; Henri OF Molhuizen,; Odell Loubser; B.F. Francis Ouelette; Keith Fichter; Katherine J.D. Ashbourne-Excoffon; Christoph Wilhelm Sensen; Stephen Scherer; Stephanie Mott; Maxime Denis; Duane Martindale; Jiri Frohlich; Kenneth Morgan; Ben Koop; Simon Pimstone; John JP Kastelein; Jacques Genest Jr.; Michael R. Hayden

doi:10.1038/11905

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

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

Research output: Contribution to journal › Article › peer-review

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 language	English
Pages (from-to)	336-345
Journal	Nature Genetics
Volume	22
DOIs	https://doi.org/10.1038/11905
Publication status	Published - 1999

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Human- & Biotechnology

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Brooks-Wilson, A., Marcil, M., Clee, S. M., Zang, L-H., Roomp, K., van Dam, M., Yu, L., Brewer, C., Collins, J. A., Molhuizen, H. OF., Loubser, O., Ouelette, B. F. F., Fichter, K., Ashbourne-Excoffon, K. J. D., Sensen, C. W., Scherer, S., Mott, S., Denis, M., Martindale, D., ... Hayden, M. R. (1999). Mutations in the ABC1 gene in Tangier disease and familial high-density lipoprotein deficiency. Nature Genetics, 22, 336-345. https://doi.org/10.1038/11905

Brooks-Wilson, A, Marcil, M, Clee, SM, Zang, L-H, 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 Jr., J & Hayden, MR 1999, 'Mutations in the ABC1 gene in Tangier disease and familial high-density lipoprotein deficiency', Nature Genetics, vol. 22, pp. 336-345. https://doi.org/10.1038/11905

@article{6b1b313891b748b6bd3b278f08ca6fb5,

title = "Mutations in the ABC1 gene in Tangier disease and familial high-density lipoprotein deficiency",

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).",

author = "Angela Brooks-Wilson and Michel Marcil and Clee, {Susanne M.} and Lin-Hua Zang and Kirsten Roomp and {van Dam}, Marjel and Lu Yu and Carl Brewer and Collins, {Jennifer A.} and Molhuizen,, {Henri OF} and Odell Loubser and Ouelette, {B.F. Francis} and Keith Fichter and Ashbourne-Excoffon, {Katherine J.D.} and Sensen, {Christoph Wilhelm} and Stephen Scherer and Stephanie Mott and Maxime Denis and Duane Martindale and Jiri Frohlich and Kenneth Morgan and Ben Koop and Simon Pimstone and Kastelein, {John JP} and {Genest Jr.}, Jacques and Hayden, {Michael R.}",

year = "1999",

doi = "10.1038/11905",

language = "English",

volume = "22",

pages = "336--345",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Publishing Group",

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TY - JOUR

T1 - Mutations in the ABC1 gene in Tangier disease and familial high-density lipoprotein deficiency

AU - Brooks-Wilson, Angela

AU - Marcil, Michel

AU - Clee, Susanne M.

AU - Zang, Lin-Hua

AU - Roomp, Kirsten

AU - van Dam, Marjel

AU - Yu, Lu

AU - Brewer, Carl

AU - Collins, Jennifer A.

AU - Molhuizen,, Henri OF

AU - Loubser, Odell

AU - Ouelette, B.F. Francis

AU - Fichter, Keith

AU - Ashbourne-Excoffon, Katherine J.D.

AU - Sensen, Christoph Wilhelm

AU - Scherer, Stephen

AU - Mott, Stephanie

AU - Denis, Maxime

AU - Martindale, Duane

AU - Frohlich, Jiri

AU - Morgan, Kenneth

AU - Koop, Ben

AU - Pimstone, Simon

AU - Kastelein, John JP

AU - Genest Jr., Jacques

AU - Hayden, Michael R.

PY - 1999

Y1 - 1999

N2 - 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).

AB - 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).

U2 - 10.1038/11905

DO - 10.1038/11905

M3 - Article

SN - 1061-4036

VL - 22

SP - 336

EP - 345

JO - Nature Genetics

JF - Nature Genetics

ER -

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

Abstract

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