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Molecular scanning of the betacellulin gene for mutations in type 2 diabetic patients
- Source :
- Diabetes Research and Clinical Practice. 68:188-192
- Publication Year :
- 2005
- Publisher :
- Elsevier BV, 2005.
-
Abstract
- Betacellulin (BTC), a member of the epidermal growth factor (EGF) family, is an important factor in the growth and/or differentiation of pancreatic β cells. In this point of view, we determined the transcriptional start site of the human BTC gene and screened the protein-coding region for mutations. The transcriptional start site was located 347 bp upstream from the translational initiation codon. After screening the protein coding exons (exons 1–5), we identified two novel missense mutations, Cys (TGC) to Gly (GGC) at codon 7 ( C7G ) and Leu (TTG) to Met (ATG) at codon 124 ( L124M ), and a single nucleotide substitution (− 31c/t ) in the intron 2. The C7G was located in the signal peptide and the L124M in the transmembrane domain and this Leu at codon 124 was conserved among human, bovine, rat, and mouse. The frequencies of these variants, however, were similar between type 2 diabetic patients ( n = 228) and non-diabetic control subjects ( n = 170). These data suggest that genetic variations in the protein-coding region of the human BTC gene are unlikely to be a major contributor to development of type 2 diabetes.
- Subjects :
- Male
Signal peptide
Endocrinology, Diabetes and Metabolism
Molecular Sequence Data
Glycine
Mutation, Missense
Biology
Polymorphism, Single Nucleotide
Cytosine
Exon
Methionine
Endocrinology
Start codon
Leucine
Epidermal growth factor
Internal Medicine
Humans
Missense mutation
Cysteine
Genetic Testing
Betacellulin
Gene
Aged
Genetics
Base Sequence
Intron
Genetic Variation
General Medicine
Middle Aged
Molecular biology
Amino Acid Substitution
Diabetes Mellitus, Type 2
Mutation
Intercellular Signaling Peptides and Proteins
Female
Transcription Initiation Site
Thymine
Subjects
Details
- ISSN :
- 01688227
- Volume :
- 68
- Database :
- OpenAIRE
- Journal :
- Diabetes Research and Clinical Practice
- Accession number :
- edsair.doi.dedup.....5396c9ec085a0cfec3f3bd65528c9520