title: Both size and GC-content of minimal introns are selected in human populations.
abstract: BACKGROUND
  We previously have studied the insertion and deletion polymorphism by sequencing no more than one hundred introns in a mixed human population and found that the minimal introns tended to maintain length at an optimal size. Here we analyzed re-sequenced 179 individual genomes (from African, European, and Asian populations) from the data released by the 1000 Genome Project to study the size dynamics of minimal introns.
  
  
  RESULTS
  We not only confirmed that minimal introns in human populations are selected but also found two major effects in minimal intron evolution: (i) Size-effect: minimal introns longer than an optimal size (87 nt) tend to have a higher ratio of deletion to insertion than those that are shorter than the optimal size; (ii) GC-effect: minimal introns with lower GC content tend to be more frequently deleted than those with higher GC content. The GC-effect results in a higher GC content in minimal introns than their flanking exons as opposed to larger introns (≥125 nt) that always have a lower GC content than that of their flanking exons. We also observed that the two effects are distinguishable but not completely separable within and between populations.
  
  
  CONCLUSIONS
  We validated the unique mutation dynamics of minimal introns in keeping their near-optimal size and GC content, and our observations suggest potentially important functions of human minimal introns in transcript processing and gene regulation.
authors: CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, People's Republic of China.
authors: Dapeng
authors: D
authors: Wang
authors: Jun
authors: J
authors: Yu
mesh_terms: D001482:Base Composition / Q000235:genetics*; D020029:Base Pairing / Q000235:genetics*; D001483:Base Sequence; D019143:Evolution, Molecular; D005828:Genetics, Population; D006801:Humans; D054643:INDEL Mutation; D007438:Introns / Q000235:genetics*; D012641:Selection, Genetic