1st International and 10th National Iranian Conference on Bioinformatics

Comparison of spatial distribution patterns of SNPs throughout the evolution

Paper ID : 1460-ICB10

Authors:

Forough Taheri *

Abstract:

Single Nucleotide Polymorphism (SNP) is the most common type of genetic variations which include only substitution of one basepair within the DNA sequence. Associations have been found between SNPs and many illnesses in human; while the severity of illness and how the body responds to the treatments are also associated with variations caused by the SNPs. Around 4 to 5 million SNP incidents have been found in human genome which are detected using bioinformatics tools and various methods such as SNP microarrays.
Previous Studies have shown that SNPs are not monotonously distributed along the DNA or do not follow a normal distribution pattern. SNPs are in fact clustered, while the density of those clusters is higher in X chromosome than the Autosomal chromosomes. around 25.4% of SNPs have at least a neighboring SNP within 25 bp. The proportion of adjacent SNPs increase sharply as we move towards the shorter mutual distances. do the mutation hotspots or the SNP clusters change their location on the genome through the evolution process? and is there pattern for this movement?
Advanced and high throughput methods of genome sequencing have made much more data available regarding SNPs on various species. The present study aims to investigate the spatial distribution of SNPs in genomes of few selected species and tries to explore the SNP hotspot movement patterns and the differences of their distribution throughout the evolution process. As we find the spatial distribution of SNPs which somehow shows the mutational hotspots, this possibility may arise that significant patterns for SNP cluster movements through chromosomes of various parts of the genome emerge. This could in turn lead to exploration of new evolutionary trends and its potential association between the spatial concentration of SNPs within various genotypes and their physical phenotypes observed through the evolution process of species.

Keywords:

Single Nucleotide Polymorphism, spatial distribution, mutation hotspot, evolution pattern

Status : Paper Accepted (Poster Presentation)