title: Molecular basis for population variation: from SNPs to SAPs.
abstract: Single nucleotide polymorphisms (SNPs) are one type of genomic DNA variations in a population. Correspondingly, single amino-acid polymorphisms (SAPs) derived from non-synonymous SNPs represent protein variations in a population. Recently, using proteomic approaches, SAPs in the plasma proteomes of an Asian population were systematically identified for the first time. That study showed that heterozygous and homozygous proteins with various SAPs have different associations with particular traits in the population. Recent discoveries of widespread differences between RNA and DNA sequences indicate that RNA editing is also a source of SAPs--one that is independent of genomic SNPs. Furthermore, we argue that there are de novo SAPs that are not encoded by either DNA or RNA sequences.
authors: Key Laboratory of Systems Biology, Institute of Biochemistry and Cell Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200031, China. wujr@sibs.ac.cn
authors: Jia-Rui
authors: JR
authors: Wu
authors: Rong
authors: R
authors: Zeng
mesh_terms: D019943:Amino Acid Substitution; D005828:Genetics, Population; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D017393:RNA Editing