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Please use this identifier to cite or link to this item: http://repository.li.mahidol.ac.th/dspace/handle/123456789/57686
Title: Defective functions of HNF1A variants on BCL2L1 transactivation and beta-cell growth
Authors: Jatuporn Sujjitjoon
Chutima Charoensuk
Thanita Thanyaphon
Suwattanee Kooptiwut
Prapaporn Jungtrakoon Thamtarana
Watip Tangjittipokin
Nalinee Chongjaroen
Chutima Chanprasert
Zuroida Abubakar
Sorravis Lapbenjakul
Pa thai Yenchitsomanus
Nattachet Plengvidhya
Faculty of Medicine, Siriraj Hospital, Mahidol University
Keywords: Biochemistry, Genetics and Molecular Biology
Issue Date: 27-Aug-2020
Citation: Biochemical and Biophysical Research Communications. Vol.529, No.3 (2020), 826-833
Abstract: © 2020 Elsevier Inc. Maturity-onset diabetes of the young type 3 (MODY3) is caused by mutations in a gene encoding transcription factor hepatocyte nuclear factor 1-alpha (HNF1A). Although the roles of HNF1A in regulation of hepatic and pancreatic genes to maintain glucose homeostasis were investigated, the functions of HNF1A are not completely elucidated. To better understand the functions of HNF1A, we characterized mutations of HNF1A in Thai MODY3 patients and studied the functions of wild-type HNF1A and variant proteins. We demonstrate for the first time that HNF1A upregulates transactivation of an anti-apoptotic gene BCL2 Like 1 (BCL2L1) and that all the identified HNF1A variants including p.D80V, p.R203C, p.P475L, and p.G554fsX556, reduce this ability. The four HNF1A variants impair HNF1A function in promoting INS-1 cell transition from G1 to S phase of cell cycle, which thereby retard cell growth. This finding indicates the role of HNF1A in beta-cell viability by upregulation of anti-apoptotic gene expression and also reaffirms its role in beta-cell growth through cell cycle control.
URI: http://repository.li.mahidol.ac.th/dspace/handle/123456789/57686
metadata.dc.identifier.url: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85087945072&origin=inward
ISSN: 10902104
0006291X
Appears in Collections:Scopus 2020

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