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Helgason A Pálsson S Lalueza-Fox C Ghosh S Sigurdardóttir S Baker A Hrafnkelsson B Arnadóttir L Thorsteinsdóttir U Stefánsson K 《Journal of molecular evolution》2007,65(1):92-102
One of the key problems in the study of ancient DNA is that of authenticating sequences obtained from PCR amplifications of
highly degraded samples. Contamination of ancient samples and postmortem damage to endogenous DNA templates are the major
obstacles facing researchers in this task. In particular, the authentication of sequences obtained from ancient human remains
is thought by many to be rather challenging. We propose a novel approach, based on the c statistic, that can be employed to help identify the sequence motif of an endogenous template, based on a sample of sequences
that reflect the nucleotide composition of individual template molecules obtained from ancient tissues (such as cloned products
from a PCR amplification). The c statistic exploits as information the most common form of postmortem damage observed among clone sequences in ancient DNA
studies, namely, lesion-induced substitutions caused by cytosine deamination events. Analyses of simulated sets of templates
with miscoding lesions and real sets of clone sequences from the literature indicate that the c-based approach is highly effective in identifying endogenous sequence motifs, even when they are not present among the sampled
clones. The proposed approach is likely to be of general use to researchers working with DNA from ancient tissues, particularly
from human remains, where authentication of results has been most challenging.
[Reviewing
Editor: Dr. Magnus Nordborg] 相似文献
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Helgason A Hrafnkelsson B Gulcher JR Ward R Stefánsson K 《American journal of human genetics》2003,72(6):1370-1388
Historical inferences from genetic data increasingly depend on assumptions about the genealogical process that shapes the frequencies of alleles over time. Yet little is known about the structure of human genealogies over long periods of time and how they depart from expectations of standard demographic models, such as that attributed to Wright and Fisher. To obtain such information and to examine the recent evolutionary history of mtDNA and Y-chromosome haplotypes in the Icelandic gene pool, we traced the matrilineal and patrilineal ancestry of all 131,060 Icelanders born after 1972 back to two cohorts of ancestors, one born between 1848 and 1892 and the other between 1798 and 1742. This populationwide coalescent analysis of Icelandic genealogies revealed highly positively skewed distributions of descendants to ancestors, with the vast majority of potential ancestors contributing one or no descendants and a minority of ancestors contributing large numbers of descendants. The expansion and loss of matrilines and patrilines has caused considerable fluctuation in the frequencies of mtDNA and Y-chromosome haplotypes, despite a rapid population expansion in Iceland during the past 300 years. Contrary to a widespread assumption, the rate of evolution caused by this lineage-sorting process was markedly faster in matrilines (mtDNA) than in patrilines (Y chromosomes). The primary cause is a 10% shorter matrilineal generation interval. Variance in the number of offspring produced within each generation was not an important differentiating factor. We observed an intergenerational correlation in offspring number and in the length of generation intervals in the matrilineal and patrilineal genealogies, which was stronger in matrilines and thus contributes to their faster evolutionary rate. These findings may have implications for coalescent date estimates based on mtDNA and Y chromosomes. 相似文献
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Paul N. Frater Birgir Hrafnkelsson Bjarki Th. Elvarsson Gunnar Stefansson 《Journal of fish biology》2019,95(2):401-410
This study assesses spatiotemporal and sex-specific growth of Atlantic cod Gadus morhua in Icelandic waters. We use a Bayesian approach which lends itself to fitting and comparing nested models such as these. We then compare fitted parameters of these models to potential explanatory variables using a redundancy analysis (RDA) to look for drivers of growth in G. morhua. Results indicate that models that incorporate differences in growth among time, space and sex are the best-fitting models according to deviance information criterion (DIC). Results from RDA indicate that capelin Mallotus villosus recruitment and biomass is highly correlated with deviations in the von Bertalannfy growth parameter k and that L∞ is correlated with G. morhua landings in the model that uses year to account for time-varying growth and estimated G. morhua recruitment in the model that uses cohort to account for time-varying growth. 相似文献
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