Population Fitness and Genetic Load of Single Nucleotide Polymorphisms Affecting mRNA splicing
نویسندگان
چکیده
Deleterious genetic variants can be evaluated as quantitative traits using information theory-based sequence analysis of recognition sites. To assess the effect of such variants, fitness and genetic load of SNPs which alter binding site affinity are derived from changes in individual information and allele frequencies. Human SNPs that alter mRNA splicing are partitioned according to their genetic load. SNPs with high genetic loads (>0.5) are common in the genome and, in many instances, predicted effects are supported by gene expression studies.
منابع مشابه
Single Nucleotide Polymorphisms and Association Studies: A Few Critical Points
Uncovering DNA sequence variations that correlate with phenotypic changes, e.g., diseases, is the aim of sequence variation studies. Common types sequence variations are Single nucleotide polymorphism (SNP, pronounced snip).SNPs are the third-generation molecular marker. SNP represents a DNA sequence variant of a single base pair with the minor allele occurring in more than 1% of a given popula...
متن کاملApplication of single-nucleotide polymorphism (SNP) as a molecular marker in the study of genetic diversity of aquatic populations
Genetic diversity is one of the important and essential characteristics of any population for its survival. The study of genetic variation in different populations of aquatic organisms is of particular importance in order to protect, stabilize and manage their stocks. Based on studies conducted in recent years, molecular markers have proven that they can be used as indicators of the genetic div...
متن کاملNo association between single nucleotide polymorphisms in pre-mirnas and the risk of gastric cancer in Chinese population
Objective(s): Accumulating evidence has demonstrated that miRNAs contribute to various genetic and epigenetic modifications in the pathogenesis of gastric cancer (GC). Recent studies focused on the four single nucleotide polymorphisms (SNPs) of pre-miRNAs including rs11614913, rs3746444, rs2910164, and rs2292832. It was suggested that these four SNPs were significantly associated with the risk ...
متن کاملFREQUENCY OF C3435 MDR1 AND A6896G CYP3A5 SINGLE NUCLEOTIDE POLYMORPHISM IN AN IRANIAN POPULATION AND COMPARISON WITH OTHER ETHNIC GROUPS
ABSTRACT Background: It is well recognized that different patients respond in different ways to medications. The inter-individual variations are greater than the intera- individual variations, a finding consistent with the notion that inheritance is a determinant of drug responses. The recent identification of genetic polymorphisms in drug-metabolizing enzymes and drug transporters led to the ...
متن کاملInvestigation of Splicing Quantitative Trait Loci in Arabidopsis thaliana
The alteration of alternative splicing patterns has an effect on the quantification of functional proteins, leading to phenotype variation. The splicing quantitative trait locus (sQTL) is one of the main genetic elements affecting splicing patterns. Here, we report the results of genome-wide sQTLs across 141 strains of Arabidopsis thaliana with publicly available next generation sequencing data...
متن کامل