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dc.creatorCastri, Loredana
dc.creatorBarrantes Mesén, Ramiro
dc.creatorPereira Reyes, Reinaldo
dc.creatorLuiselli, Donata
dc.creatorPettener, Davide
dc.creatorBarbujani, Guido
dc.creatorMadrigal, Lorena
dc.creatorMeléndez Obando, Mauricio O.
dc.creatorVillegas Palma, Ramón
dc.creatorRaventós Vorst, Henriette
dc.date.accessioned2014-03-04T20:27:07Z
dc.date.available2014-03-04T20:27:07Z
dc.date.issued2012-07
dc.identifier.citationhttp://onlinelibrary.wiley.com/doi/10.1002/ajpa.22052/abstractes
dc.identifier.issn0002-9483
dc.identifier.otheressn: 1096-8644
dc.identifier.urihttp://hdl.handle.net/10669/9233
dc.descriptionartículo (arbitrado). Universidad de Costa Rica, Centro de Investigación en Biología Celular y Molecular, 2012es
dc.description.abstractEstimates of mutation rates for the noncoding hypervariable Region I (HVR-I) of mitochondrial DNA (mtDNA) 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 paper we analyzed 19 deep-rooting pedigrees in a population of mixed origin in Costa Rica. We calculated two estimates of the HVRI 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 three-fold 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.es
dc.description.sponsorshipUniversidad de Costa Ricaes
dc.language.isoen_USes
dc.publisherAmerican Journal of Physical Anthropology 2012 July ; 148(3): 327–333.es
dc.subjectADN mitocondriales
dc.subjectGenéticaes
dc.subjectMutaciónes
dc.subjectGenealogíaes
dc.titleHigh mitochondrial mutation rates estimated from deep-rooting Costa Rican pedigreeses
dc.typeinfo:eu-repo/semantics/articlees
dc.typeArtículo científicoes
dc.identifier.doi10.1002/ajpa.22052
dc.description.procedenceUCR::Vicerrectoría de Investigación::Unidades de Investigación::Ciencias Básicas::Centro de Investigación en Biología Celular y Molecular (CIBCM)es


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