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

By E. Ruiz‐Pesini, D. Mishmar, Marty C. Brandon, Vincent Procaccio, Douglas C. Wallace. Science, 2004

818 citations recorded by the source corpus.

Subfields: Clinical Biochemistry, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/b02f1a164c91647b502be658d3c0e9e4c1f57f2c

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In Clinical Biochemistry

In Molecular Biology

Citations in the corpus

METABOLIC ADAPTATION IN INDIGENOUS SIBERIAN POPULATIONS (2005, background): “Mishmar et al. (2003) and Ruiz-Pesini et al. (2004) examined global variation in mtDNA genes associated with uncoupling of oxidative phosphorylation (e.g., ATP6).”
Mitochondrial mutations in cancer (2006, background): “…encoded complex IV polypeptides in prostate cancer (Herrmann et al., 2003; Krieg et al., 2004) and because European mtDNAs lack common COI polymorphisms, thus minimizing possible confusion between ancient variants and cancer-related mutations (Mishmar et al., 2003; Ruiz-Pesini et al., 2004).”
Mitochondrial DNA genetics and the heteroplasmy conundrum in evolution and disease. (2013, background): “(From Ruiz-Pesini et al. 2004; reproduced, with permission, from the author and the American Association for the Advancement of Science # 2004.)”
MITOMAP: a human mitochondrial genome database—2004 update (2004, background): “Today, these same variants are known to affect human longevity and predisposition to neurodegenerative diseases such as Alzheimer’s disease (AD) and Parkinson’s disease (PD) (3).”
Towards the understanding of post-glacial spread of human mitochondrial DNA haplogroups in Europe and beyond: a phylogeographic approach (2004, background): “…older " branches of the human mtDNA tree contain relatively less nonsynonymous substitutions than the " younger " ones, which can be interpreted by inferring the action of purifying selection on the mtDNA (Moilanen et al. 2003; Moilanen and Majamaa 2003; Elson et al. 2004; Ruiz-Pesini et al. 2004).”
A Mitochondrial Paradigm of Metabolic and Degenerative Diseases, Aging, and Cancer: A Dawn for Evolutionary Medicine (2005, background): “Although mice heterozygous for the Mn- SOD mutation live to old age, they have a chronically reduced liver mitochondrial membrane potential, reduced state III respiration equivalent to that of an old animal, and a striking rise in mitochondrial lipid peroxidation by middle age that drops to below th”
An enhanced MITOMAP with a global mtDNA mutational phylogeny (2006, background): “However, other haplogroups are protective against Alzheimer Disease (15–17) and Parkinson Disease (17–19) and are associated with increased longevity (8,20–24).”
Mitochondrial DNA as a marker of molecular diversity: a reappraisal (2009, background): “In human, finally, several recent articles have interpreted spatial and altitudinal mitochondrial variations in terms of local adaptation (e.g. Ruiz-Pesini et al. 2004) – a controversial point of view, though (Ingman & Gyllensten 2007).”
Mitochondrial DNA and disease (2005, background): “Among the functional characteristics reportedly influenced by mtDNA haplotypes are intelligence quotient (IQ) (72), spermatozoa swiftness (73) and adaptation to cold climates (74).”
Mitochondria take center stage in aging and neurodegeneration (2005, background): “Human mtDNA exhibits region specific variation in indigenous populations.(41) These can be organized into phylogenetic trees.”