Partial characterisation of the human GFAT promoter:: Effect of single nucleotide polymorphisms on promoter function

Partial characterisation of the human GFAT promoter:: Effect of single nucleotide polymorphisms on promoter function
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DOI:
10.1016/j.bbadis.2005.01.007
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发表时间:
2005-04-15
影响因子:
6.2
通讯作者:
Weigert, C
Weigert, C
中科院分区:
生物学2区
文献类型:
--
作者:
Burt, D;Brodbeck, K;Weigert, C

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人谷氨酰胺:果糖-6-磷酸酰胺转移酶(GFAT)基因的5 '侧翼区被表征为功能活性启动子,并且GFAT基因含有多个转录起始位点。一个新的单核苷酸多态性的位置-1412(G到C)的启动子活性的功能性影响和EMSA揭示了核蛋白的特异性结合到这个区域。(c)2005 Elsevier B. V.保留所有权利。
The 5'-flanking region of the human glutamine: fructose-6-phosphate amidotransferase (GFAT) gene was characterised as a functional active promoter and the GFAT gene contained multiple transcription start sites. A novel single nucleotide polymorphism identified at position-1412 (G to C) had a functional effect on promoter activity and EMSA revealed specific binding of nuclear proteins to this region. (c) 2005 Elsevier B.V. All rights reserved.