Segregating site

Segregating sites are positions which show differences (polymorphisms) between related genes in a sequence alignment (are not conserved).[1] Segregating sites include conservative, semi-conservative and non-conservative mutations.

The proportion of segregating sites within a gene is an important statistic in population genetics since it can be used to estimate mutation rate assuming no selection. For example, it is used to calculate the Tajima's D neutral evolution statistic.

A sequence alignment, produced by ClustalO, of mammalian histone proteins.
Sequences are the amino acids for residues 120-180 of the proteins. Residues that are conserved across all sequences are highlighted in grey. Below the protein sequences is a key denoting conserved sequence (*), conservative mutations (:), semi-conservative mutations (.), and non-conservative mutations ( ).[2]

See also

References

  1. ^ Fu, YX (Oct 1995). "Statistical properties of segregating sites". Theoretical Population Biology. 48 (2): 172–97. Bibcode:1995TPBio..48..172F. doi:10.1006/tpbi.1995.1025. PMID 7482370.
  2. ^ "Clustal FAQ #Symbols". Clustal. Retrieved 8 December 2014.
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