STRUCTURE OF THE HUMAN GENE ENCODING STEROL REGULATORY ELEMENT-BINDING PROTEIN-1 (SREBF1) AND LOCALIZATION OF SREBF1 AND SREBF2 TO CHROMOSOMES 17P11.2 AND 22Q13
STRUCTURE OF THE HUMAN GENE ENCODING STEROL REGULATORY ELEMENT-BINDING PROTEIN-1 (SREBF1) AND LOCALIZATION OF SREBF1 AND SREBF2 TO CHROMOSOMES 17P11.2 AND 22Q13
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DOI：
10.1016/0888-7543(95)80009-b
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发表时间：
1995-02-10
期刊：
影响因子：
4.4
通讯作者：
HOBBS, HH
中科院分区：
文献类型：
--
作者：
HUA, XX;WU, J;HOBBS, HH
甾醇调节元件结合蛋白 1 (SREBP1) 和 SREBP2 是结构相关的蛋白质，通过刺激甾醇调节基因的转录来控制胆固醇稳态，包括编码低密度脂蛋白 (LDL) 受体和 3-羟基-3-甲基戊二酰辅酶 A 合酶的基因。 SREBP1 和 SREBP2 具有 47% 的相同性，并且它们共享一种新颖的结构，包含转录活性 NH2 末端碱性螺旋-环-螺旋-亮氨酸拉链 (bHLH-Zip) 结构域，随后是膜附着结构域。通过甾醇调节的蛋白酶进行切割，将 bHLH-Zip 结构域从膜上释放出来，并使其进入细胞核。 SREBP1 以多种形式存在，可能是 mRNA 5' 和 3' 末端选择性剪接的结果。 SREBP1 (SREBF1) 和 SREBP2 (SREBF2) 的基因尚未进行研究。在本文中，我们描述了人类 SREBF1 基因的克隆和表征。该基因长26 kb，有22个外显子和20个内含子。两个 SREBP1 cDNA 之间不同的 5' 和 3' 序列由离散的外显子编码，证实了它们是由选择性剪接产生的假设。通过分析人-啮齿动物体细胞杂交体和荧光原位杂交，确定了人 SREBF1 和 SREBP2 的染色体位置。 SREBF1 基因定位于 17 号染色体的近端短臂 (17p11.2)，SREBF2 基因定位于 22 号染色体的长臂 (22q13)。 (C) 1995 学术出版社
Sterol regulatory element binding protein-1 (SREBP1) and SREBP2 are structurally related proteins that control cholesterol homeostasis by stimulating transcription of sterol-regulated genes, including those encoding the low-density lipoprotein (LDL) receptor and 3-hydroxy-3-methylglutaryl CoA synthase. SREBP1 and SREBP2 are 47% identical, and they share a novel structure comprising a transcriptionally active NH2-terminal basic helix-loop-helix-leucine zipper (bHLH-Zip) domain followed by a membrane attachment domain. Cleavage by a sterol-regulated protease frees the bHLH-Zip domain from the membrane and allows it to enter the nucleus. SREBP1 exists in several forms, possibly as a result of alternative splicing at both the 5' and the 3' ends of the mRNA. The genes for SREBP1 (SREBF1) and SREBP2 (SREBF2) have not been studied. In this paper we describe the cloning and characterization of the human SREBF1 gene. The gene is 26 kb in length and has 22 exons and 20 introns. The 5' and 3' sequences that differ between the two SREBP1 cDNAs are encoded by discrete exons, confirming the hypothesis that they result from alternative splicing. The chromosomal locations of human SREBF1 and SREBP2 were determined by analysis of human-rodent somatic cell hybrids and fluorescence in situ hybridization. The SREBF1 gene mapped to the proximal short arm of chromosome 17 (17p11.2), and the SREBF2 gene was localized to the long arm of chromosome 22 (22q13). (C) 1995 Academic Press, Inc.