Abstract
Hepatocyte nuclear factor 1β (HNF1β) is a transcription factor that plays a key role in the development and function of the liver, pancreas, and kidney. HNF1β plays a key role in early vertebrate development and the morphogenesis of these organs. In humans, heterozygous mutations in the HNF1B gene can result in organ dysplasia, making it the most common cause of developmental renal diseases, including renal cysts, renal malformations, and familial hypoplastic glomerular cystic kidney disease. Pathogenic variants in the HNF1B gene are known to cause various diseases, including maturity-onset diabetes of the young and developmental renal diseases. This study presents the backbone resonance assignments of HNF1β POUS and POUHD domains, which are highly conserved domains required for the recognition of double-stranded DNA. Our data will be useful for NMR studies to verify the altered structures and functions of mutant HNF1B proteins that can induce developmental renal diseases, including renal cysts, renal malformations, and familial hypoplastic glomerular cystic kidney disease. This study will provide the structural basis for future studies to elucidate the molecular mechanisms underlying how mutations in HNF1β cause diseases.
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Assignments have been deposited at the Biological Magnetic Resonance Bank (BMRB) under ID 26339 and 26,340.
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Funding
This study was supported by MEXT/JSPS KAKENHI (23K05720 to T.K.) and the Research Development Fund of Yokohama City University to T.K.
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S.H. and T.K. wrote the main manuscript text and prepared all figures and table. All authors reviewed the manuscript.
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Hokazono, S., Imagawa, E., Hirano, D. et al. 1H, 13C and 15N backbone resonance assignments of hepatocyte nuclear factor-1-beta (HNF1β) POUS and POUHD. Biomol NMR Assign 18, 59–63 (2024). https://doi.org/10.1007/s12104-024-10168-4
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DOI: https://doi.org/10.1007/s12104-024-10168-4