Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency
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DOI：
10.1038/11905
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发表时间：
1999-08-01
期刊：
影响因子：
30.8
通讯作者：
Hayden, MR
中科院分区：
文献类型：
--
作者：
Brooks-Wilson, A;Marcil, M;Hayden, MR
基因在控制高密度脂蛋白（HDL）胆固醇（HDL-C）水平中起主要作用。在这里，我们已经确定了两个丹吉尔病（TD）的家庭，确认9 q31连锁和完善的疾病基因位点，以有限的基因组区域包含的基因编码的ATP结合盒转运蛋白（ABC 1）。常见的HDL缺乏症（FHA）是低HDL水平的更常见原因。在独立连锁和减数分裂重组的基础上，我们将FHA基因定位在与TD基因相同的基因组区域，在TD和FHA中均检测到ABC 1的突变，表明TD和FHA是等位的。这表明ABC 1编码的蛋白质是影响细胞内胆固醇转运的关键守门人，因此我们将其命名为胆固醇流出调节蛋白（CERP）。
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). Familiar 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).