Maturity-Onset Diabetes of the Young Due to a Mutation in the Hepatocyte Nuclear Factor-4α Binding Site in the Promoter of the Hepatocyte Nuclear Factor-1α Gene
Maturity-Onset Diabetes of the Young Due to a Mutation in the Hepatocyte Nuclear Factor-4α Binding Site in the Promoter of the Hepatocyte Nuclear Factor-1α Gene
复制标题
肝细胞核因子 1α 基因启动子中肝细胞核因子 4α 结合位点突变导致青少年发病的糖尿病
作者：
Claudia Gragnoli;T. Lindner;B. Cockburn;P. Kaisaki;Fabio Gragnoli;Gino Marozzi;G. Bell
Recent studies have shown that mutations in the transcription factor hepatocyte nuclear factor (HNF)-1α are the cause of one form of maturity-onset diabetes of the young (MODY3). These studies have identified mutations in the mRNA and protein coding regions of this gene that result in the synthesis of an abnormal mRNA or protein. Here, we report an Italian family in which an A→C substitution at nucleotide -58 of the promoter region of the HNF-1α gene cosegregates with MODY. This mutation is located in a highly conserved region of the promoter and disrupts the binding site for the transcription factor HNF-4α, mutations in the gene encoding HNF-4α being another cause of MODY (MODY1). This result demonstrates that decreased levels of HNF-1α per se can cause MODY. Moreover, it indicates that both the promoter and coding regions of the HNF-1α gene should be screened for mutations in subjects thought to have MODY because of mutations in this gene.
影响因子：
158.5
作者：
FROGUEL, P;ZOUALI, H;COHEN, D
通讯作者：
COHEN, D