ஜர்னல் ஆஃப் புரோட்டியோமிக்ஸ் & பயோ இன்ஃபர்மேடிக்ஸ்
திறந்த அணுகல்

சுருக்கம்

மனித இன்சுலின் ஊக்கி காரணி 1 மரபணுவில் மைக்ரோசாட்லைட்டுகளின் கணக்கீட்டு பகுப்பாய்வு

Allam Appa Rao and Suresh B Mudunuri

Human Insulin Promoter Factor 1 (IPF-1) gene plays an important role in the embryonic development of pancreas and in the transcriptional regulation of insulin production. Mutations in this gene are known to cause pancreatic agenesis and diabetes mellitus. A detailed bioinformatic study of all the known mutations from HGMD database in the IPF-1 gene revealed interesting information. The information of all the experimentally proven mutations were collected and analyzed using bioinformatic tools IMEx, SMART, PSIPRED and software programs developed by us. We tried to find out whether the presence of microsatellites in the IPF-1 gene has any significance in the generation of these mutations. Our analysis revealed that the InsCCG243 (Proline insertion) mutation, known to inhibit the insulin production, is due to microsatellite polymorphism. We analyzed 9 known mutations (excluding the silence mutations) and found out except one (R197H), all the other mutations (C18R, Q59L, Pro63fsdel, D76N, G212R, E224, P239Q, InsCCG243) fall outside the domain region. The mutation falling in the domain region seems to be inducing a change in the secondary structure and resulting in change or absence of protein function. We report that 4 out of these 9 mutations fall inside the microsatellite tracts and thus indicating a positive role of microsatellites in mutagenesis.