Computational Analysis of Microsatellites in Human Insulin Promoter Factor 1
Gene |
Allam Appa Rao and Suresh B Mudunuri |
International Center for Bioinformatics, Department of Computer science and Systems Engineering, Andhra University
College of Engineering, Visakhapatnam-530003, India |
Corresponding author: |
E-mail: sureshverma@gmail.com |
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Received April 20, 2008; Accepted May 15, 2008; Published May 25, 2008 |
Citation: Allam AR, Suresh BM (2008) Computational Analysis of Microsatellites in Human Insulin Promoter Factor 1 Gene. J Proteomics Bioinform S1: S001-S004. doi:10.4172/jpb.s1000001 |
Copyright: ©2008 Allam AR, etal. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
Abstract |
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. |
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