High mitochondrial mutation rates estimated from deep‐rooting costa rican pedigrees

Bibliographic Data

ID8313016
AuthorsL Madrigal (0000-0003-0788-3558, University of South Florida), Loredana Castri (University of Bologna), Mauricio Melendez‐obando, Ramon Villegas‐palma, Ramiro Barrantes (Universidad de Costa Rica), Henriette Raventós (0000-0001-9423-8308, Universidad de Costa Rica), Henrieta Raventos, Reynaldo Pereira (Universidad de Costa Rica), Donata Luiselli (0000-0003-2105-2478, University of Bologna), Davide Pettener (0000-0003-1068-2466, University of Bologna), Guido Barbujani (0000-0001-7854-6669, University of Ferrara, corresponding author)
Year2012
Volume148
Issue3
Pages327-333
Publication date2012-07-01
Peer ReviewedYes
Open AccessYes
TypeARTICLE
VenueAmerican Journal of Physical Anthropology (JOURNAL)
Journal identifiersISSN: 0002-9483 • E-ISSN: 1096-8644
PublisherWiley (PUBLISHER • GB)
DOI10.1002/ajpa.22052
PMID22460349
PMCIDPMC3377850
OpenAlexW2113067267
LanguageEN
Citations received3
References cited40

Estimates of mutation rates for the noncoding hypervariable Region I (HVR‐I) of mitochondrial DNA vary widely, depending on whether they are inferred from phylogenies (assuming that molecular evolution is clock‐like) or directly from pedigrees. All pedigree‐based studies so far were conducted on populations of European origin. In this article, we analyzed 19 deep‐rooting pedigrees in a population of mixed origin in Costa Rica. We calculated two estimates of the HVR‐I mutation rate, one considering all apparent mutations, and one disregarding changes at sites known to be mutational hot spots and eliminating genealogy branches which might be suspected to include errors, or unrecognized adoptions along the female lines. At the end of this procedure, we still observed a mutation rate equal to 1.24 × 10 −6 , per site per year, i.e., at least threefold as high as estimates derived from phylogenies. Our results confirm that mutation rates observed in pedigrees are much higher than estimated assuming a neutral model of long‐term HVRI evolution. We argue that until the cause of these discrepancies will be fully understood, both lower estimates (i.e., those derived from phylogenetic comparisons) and higher, direct estimates such as those obtained in this study, should be considered when modeling evolutionary and demographic processes. Am J Phys Anthropol 148:327–333, 2012. © 2012 Wiley Periodicals, Inc

Biology · Evolutionary biology · Gene · Mitochondrial DNA · Molecular clock · Mutation · Mutation rate · Pedigree chart · Phylogenetic tree · Population · Recombination · Recombination rate · Demography · Forensic and Genetic Research · Genetic diversity and population structure · Genetics · Genomics and Phylogenetic Studies

Tools

Open DOISci-HubOpen Access