title: Monomorphism of human cytochrome c.
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.
authors.affiliation: Magnetic Resonance Center, University of Florence, 50019 Sesto Fiorentino, Italy. ivanobertini@cerm.unifi.it
authors.forename: Ivano
authors.initials: I
authors.lastname: Bertini
authors.forename: Eva
authors.initials: E
authors.lastname: Grassi
authors.forename: Claudio
authors.initials: C
authors.lastname: Luchinat
authors.forename: Alessandro
authors.initials: A
authors.lastname: Quattrone
authors.forename: Edoardo
authors.initials: E
authors.lastname: Saccenti
mesh_terms: D000483:Alleles; D000818:Animals; D001483:Base Sequence; D017124:Conserved Sequence; D045304:Cytochromes c / Q000235:genetics*; D017931:DNA Primers / Q000235:genetics; D030561:Databases, Nucleic Acid; D014644:Genetic Variation; D005828:Genetics, Population; D023281:Genomics; D006801:Humans; D010802:Phylogeny; D020641:Polymorphism, Single Nucleotide; D011323:Primates / Q000235:genetics
chemical_list: D017931:DNA Primers; D045304:Cytochromes c