Bioinformatics Profiling of Missense Mutations
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 32769
Bioinformatics Profiling of Missense Mutations

Authors: I. Nassiri, B. Goliaei, M. Tavassoli

Abstract:

The ability to distinguish missense nucleotide substitutions that contribute to harmful effect from those that do not is a difficult problem usually accomplished through functional in vivo analyses. In this study, instead current biochemical methods, the effects of missense mutations upon protein structure and function were assayed by means of computational methods and information from the databases. For this order, the effects of new missense mutations in exon 5 of PTEN gene upon protein structure and function were examined. The gene coding for PTEN was identified and localized on chromosome region 10q23.3 as the tumor suppressor gene. The utilization of these methods were shown that c.319G>A and c.341T>G missense mutations that were recognized in patients with breast cancer and Cowden disease, could be pathogenic. This method could be use for analysis of missense mutation in others genes.

Keywords: Bioinformatics, missense mutations, PTEN tumorsuppressor gene.

Digital Object Identifier (DOI): doi.org/10.5281/zenodo.1329390

Procedia APA BibTeX Chicago EndNote Harvard JSON MLA RIS XML ISO 690 PDF Downloads 2330

References:


[1] Graf W.D et al (2000) Can Bioinformatics Help Trace the Steps from Gene Mutation to Disease? Neurology 55(3):331-3.
[2] Sunyaev S et al (2001) Prediction of deleterious human alleles. Hum Mol Genet 10(6):591-7.
[3] Steck PA et al (1997) Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers. Nat Genet 15:356-362.
[4] Li J et al (1997) Pten, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer. Science 275:1943- 1947.
[5] Nassiri I et al (2008) Mutational analysis in the MMAC1 gene associated in patients with Juvenile Polyposis syndrome and Cowden Disease. AAJC 7(3):25-30.
[6] Otto L et al (1997) Germline mutations in Pten are present in Bannayan- Zonana Syndrome. Nat Genet 16:333-334.
[7] Stiles B et al (2004) PTENless means more. Dev.Biol 273:175 -184.
[8] Lee J et al (1999) Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association. Cell 99:323-334.
[9] Raftopoulou M et al (2004) Regulation of cell migration by the C2 domain of the tumor suppressor PTEN. Science 303:1179-1181.
[10] http://egp.gs.washington.edu/
[11] http://www.sanger.ac.uk/cosmic/
[12] Bairoch A et al (2005) The Universal Protein Resource (UniProt). Nucleic Acids Res 33:154-9.
[13] Bao L et al (2005) Prediction of the phenotypic effects of nonsynonymous single nucleotide polymorphisms using structural and evolutionary information. Bioinformatics 21:2185-90.
[14] Bardelli A et al (2005) Mutational analysis of gene families in human cancer. Curr Opin Genet Dev 15:5-12.
[15] Altschul SF et al (1990) Basic local alignment search tool. J Mol Biol 215:403-410.
[16] Nassiri I et al (2008) Pharmacogenomic profiling of the PI3K/PTEN pathway in sporadic breast cancer. Iranian journal of Biomedical 13(4):209-214.
[17] http://bioinformatics.org/seqext/index.html
[18] Chow L and Baker S (2006) PTEN function in normal and neoplastic growth. Can Let 241:184-196.
[19] Han S et al (2000) Functional Evaluation of PTEN Missense Mutations Using in Vitro Phosphoinositide Phosphatase Assay. Can Res 60:3147- 3151.
[20] Henikoff S et al (2003) SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 31:3812-4
[21] Karchin R et al (2005) LS-SNP: large-scale annotation of coding nonsynonymous SNPs based on multiple information sources. Bioinformatics 21:2814-20.
[22] Barenboim M et al (2005) Statistical geometry approach to the study of functional effects of human nonsynonymous SNPs. Hum Mutat 26:471- 6.
[23] Yue P et al (2006) Identification and analysis of deleterious human SNPs. J Mol Biol 356:1263-74.