title: Conformational mutation in human mtDNA detected by direct sequencing of enzymatically amplified DNA.
abstract: Restriction enzyme analysis of 241 human mtDNAs revealed polymorphism in the electrophoretic mobility of a fragment corresponding to part of the ND4 gene. Enzymatic amplification and direct sequencing of this fragment demonstrates that a single T--C transition correlates with the faster mobility exhibited by the fragment in seven mtDNAs from Papua New Guinea. The enhanced mobility caused by this transition could result from disrupting an AT-rich region near the middle of the fragment that might make it curve. An analogous mutation at an adjacent position in a European mtDNA causes a similar but more pronounced alteration in mobility. The seven New Guineans with this substitution are all from the Eastern Highlands Province and constitute one clade in a genealogical tree based upon restriction analysis. The additional information provided by sequencing allows refinement of the genealogical tree but does not require modification of higher order branching structure.
authors.affiliation: Department of Biochemistry, University of California, Berkeley 94720.
authors.forename: L
authors.initials: L
authors.lastname: Vigilant
authors.forename: M
authors.initials: M
authors.lastname: Stoneking
authors.forename: A C
authors.initials: AC
authors.lastname: Wilson
mesh_terms: D001483:Base Sequence; D004262:DNA Restriction Enzymes / Q000378:metabolism; D004272:DNA, Mitochondrial / Q000032:analysis*; D005784:Gene Amplification; D009154:Mutation; D009690:Nucleic Acid Conformation; D011110:Polymorphism, Genetic
chemical_list: D004272:DNA, Mitochondrial; D004262:DNA Restriction Enzymes