Effects of Purifying and Adaptive Selection on Regional Variation in Human mtDNA-Reference-Cited by-同舟云学术

Effects of Purifying and Adaptive Selection on Regional Variation in Human mtDNA

Published:2004-01-09 Issue:5655 Volume:303 Page:223-226
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Ruiz-Pesini Eduardo¹²,Mishmar Dan¹²,Brandon Martin¹²,Procaccio Vincent¹²,Wallace Douglas C.¹²

Affiliation:

1. Center for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, CA 92697-3940, USA.

2. Information & Computer Science, Institute for Genomics & Bioinformatics, University of California, Irvine, CA 92697-3425, USA.

Abstract

A phylogenetic analysis of 1125 global human mitochondrial DNA (mtDNA) sequences permitted positioning of all nucleotide substitutions according to their order of occurrence. The relative frequency and amino acid conservation of internal branch replacement mutations was found to increase from tropical Africa to temperate Europe and arctic northeastern Siberia. Particularly highly conserved amino acid substitutions were found at the roots of multiple mtDNA lineages from higher latitudes. These same lineages correlate with increased propensity for energy deficiency diseases as well as longevity. Thus, specific mtDNA replacement mutations permitted our ancestors to adapt to more northern climates, and these same variants are influencing our health today.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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