Monomorphism of human cytochrome c

Genomics. 2006 Nov;88(5):669-72. doi: 10.1016/j.ygeno.2006.07.010. Epub 2006 Aug 24.

Abstract

Cytochrome c (Cyt c) has key roles in both mitochondrial electron transfer and apoptosis onset and is therefore likely undergoing a strong selective pressure against amino acid variation. Nevertheless, a phylogenetically fast amino acid replacement rate in the Cyt c of species of the anthropoid primate lineage was recently reported. We therefore looked for the presence of nonsynonymous single nucleotide polymorphisms (nsSNPs) in the human Cyt c (HGNC approved gene symbol: CYCS), which, given its cellular constraints, could have important functional consequences, and found a large number of putative nsSNPs reported in the dbSNP database. We then subjected these putative SNPs to experimental validation by sequencing the Cyt c gene in a panel of 95 individuals assumed as a standard reference of the human population diversity. Surprisingly, none of the putative SNPs survived experimental validation. We conclude that non-rare allelic variants of the Cyt c protein are absent in the human populations analyzed in this study.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Animals
  • Base Sequence
  • Conserved Sequence
  • Cytochromes c / genetics*
  • DNA Primers / genetics
  • Databases, Nucleic Acid
  • Genetic Variation
  • Genetics, Population
  • Genomics
  • Humans
  • Phylogeny
  • Polymorphism, Single Nucleotide
  • Primates / genetics

Substances

  • DNA Primers
  • Cytochromes c