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人类脂肪酸转运蛋白1(SLC27A1;FATP-1)的互补DNA及基因:结构、染色体定位与表达

The human fatty acid transport protein-1 (SLC27A1; FATP-1) cDNA and gene: organization, chromosomal localization, and expression.

作者信息

Martin G, Nemoto M, Gelman L, Geffroy S, Najib J, Fruchart J C, Roevens P, de Martinville B, Deeb S, Auwerx J

机构信息

Département d'Athérosclérose, INSERM U 325, Lille, F-59019, France.

出版信息

Genomics. 2000 Jun 15;66(3):296-304. doi: 10.1006/geno.2000.6191.

DOI:10.1006/geno.2000.6191
PMID:10873384
Abstract

Uptake of fatty acids into cells is a controlled process in part regulated by fatty acid transport proteins (FATPs), which facilitate the transport of fatty acids across the cell membrane. In this study the structure of the human FATP-1 (HGMW-approved symbol SLC27A1) cDNA and gene was determined, and the expression of its mRNA in human was characterized. Muscle and adipose tissue have the highest levels of FATP-1 mRNA, small intestine has intermediate levels, and FATP-1 mRNA is barely detectable in liver. The human FATP-1 gene has 12 exons and extends over more than 13 kb of genomic DNA. The FATP gene maps to chromosome 19p13.1 by fluorescence in situ hybridization, a region previously suggested to be implicated in the determination of small dense low-density lipoprotein (LDL). Knowledge of the gene structure and chromosomal localization will allow screening for FATP mutations in humans with metabolic disorders, whereas knowledge of its expression pattern and factors regulating its expression could be of importance in understanding its biology.

摘要

脂肪酸进入细胞的过程是一个受调控的过程,部分受脂肪酸转运蛋白(FATP)调控,FATP可促进脂肪酸跨细胞膜的转运。在本研究中,确定了人FATP-1(HGMW批准符号SLC27A1)cDNA和基因的结构,并对其mRNA在人体内的表达进行了表征。肌肉和脂肪组织中FATP-1 mRNA水平最高,小肠中水平中等,而肝脏中几乎检测不到FATP-1 mRNA。人FATP-1基因有12个外显子,跨越超过13kb的基因组DNA。通过荧光原位杂交,FATP基因定位于染色体19p13.1,该区域先前被认为与小而密低密度脂蛋白(LDL)的测定有关。了解该基因的结构和染色体定位将有助于筛查患有代谢紊乱的人类中的FATP突变,而了解其表达模式和调节其表达的因素对于理解其生物学特性可能具有重要意义。

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