Examination of Signatures of Recent Positive Selection on Genes Involved in Human Sialic Acid Biology

G3 : Genes - Genomes - Genetics
Jiyun M MoonAntonis Rokas

Abstract

Sialic acids are nine carbon sugars ubiquitously found on the surfaces of vertebrate cells and are involved in various immune response-related processes. In humans, at least 58 genes spanning diverse functions, from biosynthesis and activation to recycling and degradation, are involved in sialic acid biology. Because of their role in immunity, sialic acid biology genes have been hypothesized to exhibit elevated rates of evolutionary change. Consistent with this hypothesis, several genes involved in sialic acid biology have experienced higher rates of non-synonymous substitutions in the human lineage than their counterparts in other great apes, perhaps in response to ancient pathogens that infected hominins millions of years ago (paleopathogens). To test whether sialic acid biology genes have also experienced more recent positive selection during the evolution of the modern human lineage, reflecting adaptation to contemporary cosmopolitan or geographically-restricted pathogens, we examined whether their protein-coding regions showed evidence of recent hard and soft selective sweeps. This examination involved the calculation of four measures that quantify changes in allele frequency spectra, extent of population differentiation, ...Continue Reading

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Citations

Jun 20, 2019·G3 : Genes - Genomes - Genetics·Jiyun M MoonAntonis Rokas

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Software Mentioned

Selscan
SLiM
coin
tabix
Ensembl
R
PopGenome
R package PopGenome
VCFtools
BioMart

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