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

A. Brooks-Wilson; M. Marcil; S. M. Clee; L. H. Zhang; K. Roomp; M. van Dam; L. Yu; C. Brewer; J. A. Collins; H. O. Molhuizen; O. Loubser; B. F. Ouelette; K. Fichter; K. J. Ashbourne-Excoffon; C. W. Sensen; S. Scherer; S. Mott; M. Denis; D. Martindale; J. Frohlich; K. Morgan; B. Koop; S. Pimstone; J. J. Kastelein; J. Genest; M. R. Hayden

doi:https://doi.org/10.1038/11905

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

A. Brooks-Wilson, M. Marcil, S. M. Clee, L. H. Zhang, K. Roomp, M. van Dam, L. Yu, C. Brewer, J. A. Collins, H. O. Molhuizen, O. Loubser, B. F. Ouelette, K. Fichter, K. J. Ashbourne-Excoffon, C. W. Sensen, S. Scherer, S. Mott, M. Denis, D. Martindale, J. FrohlichK. Morgan, B. Koop, S. Pimstone, J. J. Kastelein, J. Genest, M. R. Hayden

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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
Issue number	4
DOIs	https://doi.org/10.1038/11905
Publication status	Published - 1999

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Brooks-Wilson, A., Marcil, M., Clee, S. M., Zhang, L. H., Roomp, K., van Dam, M., Yu, L., Brewer, C., Collins, J. A., Molhuizen, H. O., Loubser, O., Ouelette, B. F., Fichter, K., Ashbourne-Excoffon, K. J., Sensen, C. W., Scherer, S., Mott, S., Denis, M., Martindale, D., ... Hayden, M. R. (1999). Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nature Genetics, 22(4), 336-345. https://doi.org/10.1038/11905

@article{520e2efe94e342399960ce145cd1e055,

title = "Mutations in ABC1 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 = "A. Brooks-Wilson and M. Marcil and Clee, {S. M.} and Zhang, {L. H.} and K. Roomp and {van Dam}, M. and L. Yu and C. Brewer and Collins, {J. A.} and Molhuizen, {H. O.} and O. Loubser and Ouelette, {B. F.} and K. Fichter and Ashbourne-Excoffon, {K. J.} and Sensen, {C. W.} and S. Scherer and S. Mott and M. Denis and D. Martindale and J. Frohlich and K. Morgan and B. Koop and S. Pimstone and Kastelein, {J. J.} and J. Genest and Hayden, {M. R.}",

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doi = "https://doi.org/10.1038/11905",

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Brooks-Wilson, A, Marcil, M, Clee, SM, Zhang, LH, Roomp, K, van Dam, M, Yu, L, Brewer, C, Collins, JA, Molhuizen, HO, Loubser, O, Ouelette, BF, Fichter, K, Ashbourne-Excoffon, KJ, Sensen, CW, Scherer, S, Mott, S, Denis, M, Martindale, D, Frohlich, J, Morgan, K, Koop, B, Pimstone, S, Kastelein, JJ, Genest, J & Hayden, MR 1999, 'Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency', Nature Genetics, vol. 22, no. 4, pp. 336-345. https://doi.org/10.1038/11905

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

AU - Brooks-Wilson, A.

AU - Marcil, M.

AU - Clee, S. M.

AU - Zhang, L. H.

AU - Roomp, K.

AU - van Dam, M.

AU - Yu, L.

AU - Brewer, C.

AU - Collins, J. A.

AU - Molhuizen, H. O.

AU - Loubser, O.

AU - Ouelette, B. F.

AU - Fichter, K.

AU - Ashbourne-Excoffon, K. J.

AU - Sensen, C. W.

AU - Scherer, S.

AU - Mott, S.

AU - Denis, M.

AU - Martindale, D.

AU - Frohlich, J.

AU - Morgan, K.

AU - Koop, B.

AU - Pimstone, S.

AU - Kastelein, J. J.

AU - Genest, J.

AU - Hayden, M. 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 - https://doi.org/10.1038/11905

DO - https://doi.org/10.1038/11905

M3 - Article

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SN - 1061-4036

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