Allelic Frequency in Human SNPs Predicts the Rate of Non-Synonymous Nucleotide Substitutions between Human and Chimpanzee Genes

Hippokratis Kiaris,Athanasios G Papavassiliou

doi:10.4236/aa.2014.41007

Abstract

The combination of comparative genomics and population genetics may provide important clues regarding human evolution. We have hypothesized that the divergence between various human and chimpanzee orthologs will be reflected in the variability of single nucleotide polymorphisms (SNPs) that are localized in the vicinity of the corresponding loci in different human populations. Consistently with this notion, more diverged genes between humans and chimpanzees are more likely to be associated with human speciation and are anticipated to contain SNPs with reduced variability between different human populations. In order to test this hypothesis, we have compared the rate of non synonymous nucleotide substitutions (Ka) between 255 chimpanzee and human orthologs with the average deviation in the allelic frequencies of corresponding closely linked SNPs in two distinct human populations: The Yoruba people in Ibadan, Nigeria (YRI) and US residents with ancestry from Northern and Western Europe, collected in 1980 by the Centre d’Etude du Polymorphisme Humain (CEU). We found a significant (p

Highlights

The genetic details of human speciation and the identification of the array of the genes with the most important role in the divergence of humans and chimpanzees from their common evolutionary ancestor, represents an intriguing problem in modern biology because of its obvious importance in the study of human evolution (Disotell, 2006; Raaum et al, 2005)
The recent completion of the human and the chimpanzee genome projects and the advancement of the emerging field of comparative genomics provided investigators with tremendous tools to study these processes and phenomena and offered unique opportunities to answer questions related to human speciation (The Chimpanzee Sequencing and Analysis Consortium, 2005)
Ka values from 255 randomly selected human-chimpanzee orthologs were obtained from previously reported studies (The Chimpanzee Sequencing and Analysis Consortium, 2005)

Summary

Introduction

The genetic details of human speciation and the identification of the array of the genes with the most important role in the divergence of humans and chimpanzees from their common evolutionary ancestor, represents an intriguing problem in modern biology because of its obvious importance in the study of human evolution (Disotell, 2006; Raaum et al, 2005). In addition it possesses important implications in biomedicine since it aims to identify genes intrinsically related to human behavior, physiology and pathology (Fisher & Marcus, 2006; Premack, 2007). The later refer to changes in the primary sequences of genes that result in differences in the corresponding amino-acids and in the resulting protein products

Methods

Results

Conclusion