["Cold" spots in hypervariable segment 1 of human mitochondrial DNA].
Analysis of distribution of mutations in hypervariable segment 1 (HVS1) of mitochondrial DNA (mtDNA) in data set of more than 37,000 individuals, representing different regions of the world, allowed one to estimate the mutation processes intensity and peculiarity of mtDNA "cold" spots distribution. Results of analysis of structure-function organization and variability of the mtDNA fragment under study revealed that decrease of variability is characteristic for HVS1 sequences with probable functional importance. Analysis of distribution of "cold" spots CAT in secondary structures testified against the correlation between "cold" spot location and mtDNA structure type.
Maliarchuk
B A
BA
D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*
D004272:DNA, Mitochondrial