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

Abstract

Estimates 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 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 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.

Measuring the impact of European colonization on Native American populations in Southern Brazil and Uruguay: Evidence from mtDNA

“…However, such a hypothesis is unlikely due to the short evolutionary time since the arrival of Europeans in South America (∼0.5 kya). Even when the fastest mutation rates (eg, Madrigal et al, ) are considered, it would be unlikely that new mutations arising in mtDNA of Admixed populations would be sufficient to explain the very different genetic diversity pattern between Native and Admixed populations. In addition, coalescence analysis in Network indicated that much more than 500 years was needed for the observed existing diversity in Admixed populations to arise.…”

A systematic review of post-marital residence patterns in prehistoric hunter-gatherers

“…Researchers typically measure mtDNA haplotypes by sequencing a hypervariable region of the mitochondrial genome that is prone to mutation. The high rate of mutations in this region means that occasionally individuals with matrilines that join within a few prior generations (or even one prior generationsiblings or mother and offspring) have different haplotypes (62,63). The high mutation rate also occurs within individuals due to unrepaired or incorrectly repaired DNA damage and during DNA replication in cell division over the life span, producing diversity in mtDNA haplotypes within individuals (64,65).…”

Effect of Recent Historical Events on Migration and Isonymic Stratification among the Rama Amerindians from Nicaragua

“…Isonymic models have been applied to wide ranging studies covering small groups, such as those found in households and villages, to large populations representing entire countries or even continents (Colantonio et al 2003;Darlu et al 2012). The integration of genealogical information with genetic studies has recently been recognized as an important source of information on mutational, cultural, and historical components of human communities which cannot be gleaned from molecular data alone (Larmuseau et al 2013;Madrigal et al 2012). In addition to carrying genealogical data, Gallo and a few scattered hamlets along the river.…”

“…The integration of genealogical information with genetic studies has recently been recognized as an important source of information on mutational, cultural, and historical components of human communities which cannot be gleaned from molecular data alone (Larmuseau et al 2013;Madrigal et al 2012). In addition to carrying genealogical data, surnames retain information regarding social and economic conditions relevant to numerous disciplines (Darlu et al 2012).…”