A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs
Abstract
Nonsense SNPs introduce premature termination codons into genes and can result in the absence of a gene product or in a truncated and potentially harmful protein, so they are often considered disadvantageous and are associated with disease susceptibility. As such, we might expect the disrupted allel …
Keywords
Evolution
National Center for Biotechnology Information
NCBI
NLM
MEDLINE
humans
pubmed abstract
nih
national institutes of health
national library of medicine
research support
non-u.s. gov't
codon
Molecular*
Genotype
Polymorphism
chromosome mapping
carrier proteins / genetics
dna primers
single nucleotide*
homozygote
heterozygote
dna / genetics
chris tyler-smith
pmid:19200524
pmc2668024
doi:10.1016/j.ajhg.2009.01.008
bryndis yngvadottir
yali xue
actinin / genetics
caspase 12 / genetics
nonsense / genetics*
frameshift mutation
nerve tissue proteins / genetics
open reading frames / genetics
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