Similar Profile of Single Nucleotide Substitution Types in Bacteria and Human Genetic Disease

Authors: Kiewitz, Claudia; Tümmler, Burkhard

Source: Genome Letters, Volume 1, Number 3, September 2002 , pp. 111-114(4)

Publisher: American Scientific Publishers

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Abstract:

The spectrum of single nucleotide substitution types of neutral sequence variants in bacteria (Salmonella , Pseudomonas aeruginosa) was compared with that of disease-causing germline mutations in man (cystic fibrosis transmembrane conductance regulator and factor VIII genes) in order to assess the relative impact of species-specific vs. universal rules on base substitution. The majority of base substitutions (C → T, G → A, T → C, and A → G) presumably derived from the thermodynamically most stable G · T and T · G mismatches followed by A · G, G · A, and G · G mismatches. Despite differences in structural and functional impact of the amino acid alterations, the profile of nucleotide substitution is similar in different phylogenetic lineages leading to the conclusion that single nucleotide substitution is governed by evolutionarily conserved error-correction mechanisms and the geometric selection and thermodynamic stability of the mismatch irrespective of phylogenetic distance and GC content.

Keywords: PSEUDOMONAS AERUGINOSA; SALMONELLA; HUMAN MUTATION; CFTR; FACTOR VIII; SEQUENCE DIVERSITY; SINGLE NUCLEOTIDE SUBSTITUTION; SNP

Document Type: Short communication

DOI: http://dx.doi.org/10.1166/gl.2002.013

Affiliations: 1: Klinische Forschergruppe, OE 6711, Medizinische Hochschule Hannover, D-30623 Hannover, Germany

Publication date: 2002-09-01

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