Abstract
Over 1,300 conserved non-coding sequences were identified that appear to have undergone dramatic human-specific changes in selective pressures; these are enriched in recent segmental duplications, suggesting a recent change in selective constraint following duplication.
Highlights
Gene regulation is considered one of the driving forces of evolution
By analyzing the genomic distribution and nucleotide variation of these fast-evolving conserved noncoding (CNC) sequences, we find that significant numbers of them are found in the most recent segmental duplications, and single nucleotide polymorphisms (SNPs) within them are associated with changes in gene expression
Searching for fast-evolving conserved noncoding sequences We have selected 304,291 of the most conserved noncoding sequences of at least 100 base pairs in length to look for evidence of accelerated substitution rate in the human lineage, by comparing the orthologous sequences of CNC sequences between human and chimpanzee
Summary
Gene regulation is considered one of the driving forces of evolution. protein-coding DNA sequences and RNA genes have been subject to recent evolutionary events in the human lineage, it has been hypothesized that the large phenotypic divergence between humans and chimpanzees has been driven mainly by changes in gene regulation rather than altered protein-coding gene sequences. Comparative analysis of vertebrate genomes has revealed an abundance of evolutionarily conserved but noncoding sequences. These conserved noncoding (CNC) sequences may well harbor critical regulatory variants that have driven recent human evolution. Http://genomebiology.com/2007/8/6/R118 particular, it was proposed a few decades ago that the phenotypic divergence between human and chimpanzees is largely due to changes in gene regulation rather than changes in the protein-coding sequences of genes [2]. Studies of nucleotide variation have revealed strong selective constraints on CNC sequences in human populations [8], and so there is little doubt that a large number of them have a functional role. A small fraction of the CNC sequences can be associated with transcriptional regulation (most of the most highly conserved examples of CNC sequences appear to be enhancers of early development genes [5,9]), there remains a large number of CNC sequences with unexplained function
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