Dados Bibliográficos

AUTOR(ES) Ramiro Barrantes , Guido Barbujani , Davide Pettener , Donata Luiselli , L. Madrigal , Rui Pereira , Mauricio Meléndez‐Obando , Ramon Villegas‐Palma , Henriette Raventos , Loredana Castrì (Posthumously)
ANO 2012
TIPO Artigo
PERIÓDICO American Journal of Physical Anthropology
ISSN 0002-9483
E-ISSN 1096-8644
EDITORA Berghahn Journals (United Kingdom)
DOI 10.1002/ajpa.22052
CITAÇÕES 2
ADICIONADO EM 2025-08-18
MD5 7f19c88f2988f3fb1290390cc74efe08

Resumo

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.

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