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Mutation in hepatocyte nuclear factor–1β gene (TCF2) associated with MODY

Mutation in hepatocyte nuclear factor–1β gene (TCF2) associated with MODY © 1997 Nature Publishing Group http://www.nature.com/naturegenetics correspon~ce Mutation in hepatocyte nuclear factor-1 ~ gene (TCF2) associated with MODY .............................................................................................................................................................................................................................................. utations in genes encoding the func­ Table 1 • Mutations and DNA polymorph isms in human TCF2 and PCBD genes tionally related liver-enriched, but not liver-restricted, transcription factors Location Nucleotide change Frequency hepatocyte nuclear factor-1 (HNF-1a.) MODY Non-diabetic and HNF-4a. are associated with maturity­ (n =57) (n =53) onset diabetes of the young (MODY), a A. TCF2 (HNF-1~) monogenic form of diabetes mellitus char­ Exon 2 codon 177 CGA (Argh TGA (OP) C- 0.99, T- O.Q1 C -1.00, T- 0.00 acterized by autosomal-dominant inheri­ Exon 7 codon 463 GCC (AiahGCT (Ala) C- 0.99, T- O.Q1 C- 0.98, T- O.o2 tance, onset usually before 25 years of age lntron 8 nt 48 Insertion C c- 0.12 c- 0.17 and abnormal glucose-stimulated insulin lntron 8 nt -22 C-tT C- 0.71, T- 0.29 C - 0.68, T- 0.32 1 2 secretion • . HNF-1a. and HNF-4a. are B. PCBD (DCoH) members of a complex transcriptional reg­ Exon 4 nt 9306 A- 0.82, G- 0.18 A- 0.80, G - 0.20 ulatory network that includes other home­ The partial sequence of the human HNF-1 p http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Nature Genetics Springer Journals

Mutation in hepatocyte nuclear factor–1β gene (TCF2) associated with MODY

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References (13)

Publisher
Springer Journals
Copyright
Copyright © 1997 by Nature Publishing Group
Subject
Biomedicine; Biomedicine, general; Human Genetics; Cancer Research; Agriculture; Gene Function; Animal Genetics and Genomics
ISSN
1061-4036
eISSN
1546-1718
DOI
10.1038/ng1297-384
Publisher site
See Article on Publisher Site

Abstract

© 1997 Nature Publishing Group http://www.nature.com/naturegenetics correspon~ce Mutation in hepatocyte nuclear factor-1 ~ gene (TCF2) associated with MODY .............................................................................................................................................................................................................................................. utations in genes encoding the func­ Table 1 • Mutations and DNA polymorph isms in human TCF2 and PCBD genes tionally related liver-enriched, but not liver-restricted, transcription factors Location Nucleotide change Frequency hepatocyte nuclear factor-1 (HNF-1a.) MODY Non-diabetic and HNF-4a. are associated with maturity­ (n =57) (n =53) onset diabetes of the young (MODY), a A. TCF2 (HNF-1~) monogenic form of diabetes mellitus char­ Exon 2 codon 177 CGA (Argh TGA (OP) C- 0.99, T- O.Q1 C -1.00, T- 0.00 acterized by autosomal-dominant inheri­ Exon 7 codon 463 GCC (AiahGCT (Ala) C- 0.99, T- O.Q1 C- 0.98, T- O.o2 tance, onset usually before 25 years of age lntron 8 nt 48 Insertion C c- 0.12 c- 0.17 and abnormal glucose-stimulated insulin lntron 8 nt -22 C-tT C- 0.71, T- 0.29 C - 0.68, T- 0.32 1 2 secretion • . HNF-1a. and HNF-4a. are B. PCBD (DCoH) members of a complex transcriptional reg­ Exon 4 nt 9306 A- 0.82, G- 0.18 A- 0.80, G - 0.20 ulatory network that includes other home­ The partial sequence of the human HNF-1 p

Journal

Nature Genetics – Springer Journals

Published: Dec 1, 1997

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