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The Identification of a 1916 Irish Rebel: New Approach for Estimating Relatedness from Low Coverage Homozygous Genomes

2017-01-30, Fernandes, Daniel, Sirak, Kendra, Novak, Mario, Finarelli, John A., Carlsson, Jeanette E. L., Ferretti, Edmondo, Pinhasi, Ron, Carlsson, Jens, et al.

Thomas Kent was an Irish rebel who was executed by British forces in the aftermath of the Easter Rising armed insurrection of 1916 and buried in a shallow grave on Cork prison’s grounds. In 2015, ninety-nine years after his death, a state funeral was offered to his living family to honor his role in the struggle for Irish independence. However, inaccuracies in record keeping did not allow the bodily remains that supposedly belonged to Kent to be identified with absolute certainty. Using a novel approach based on homozygous single nucleotide polymorphisms, we identified these remains to be those of Kent by comparing his genetic data to that of two known living relatives. As the DNA degradation found on Kent’s DNA, characteristic of ancient DNA, rendered traditional methods of relatedness estimation unusable, we forced all loci homozygous, in a process we refer to as 'forced homozygote approach'. The results were confirmed using simulated data for different relatedness classes. We argue that this method provides a necessary alternative for relatedness estimations, not only in forensic analysis, but also in ancient DNA studies, where reduced amounts of genetic information can limit the application of traditional methods.

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A cross-population analysis of the growth of long bones and the os coxae of three Early Medieval Austrian populations

2005-08, Pinhasi, Ron, Teschler-Nicola, M., Knaus, A., Shaw, P.

Inter-population variability in long-bone and pelvic-bone growth during the Early Medieval period is examined. The materials comprise four archaeological populations: two Slavonic (Gars–Thunau, Zwentendorf, Austria, 10th-century ad), one Avar (Zwölfaxing, Austria, 8th-century ad), and one Anglo-Saxon (Raunds, England, 10th-century ad). Bone measurements are analyzed against dental age estimates in order to assess inter-population differences in growth rates for long-bone and os coxae bone dimensions. Growth curves of the upper and lower extremities of additional archaeological populations and a modern North-American population are also assessed. The expectation was that the greatest differences in growth patterns would be found between the Anglo-Saxon and the Austrian samples, due to their distinct genetic and biocultural background. Minimal differences were expected between the two Slavonic populations, as these were approximately contemporaneous, recovered from geographically close locations, and shared relatively similar archaeological contexts. Growth curves were estimated for each bone dimension by fitting least-squares fourth-order polynomials (which allowed testing of population differences by analysis of covariance), and iteratively estimating Gompertz growth curves. The results showed differences between bones in the extent of inter-population variability, with diaphyseal long-bone growth showing equivalent patterns across the four populations, but significant differences between populations in the growth patterns of distal diaphyseal dimensions of the femur and humerus and the dimensions of the ilium. Varying growth patterns are therefore associated with inter-population differences in absolute dimensions in relation to age as well as variations in growth velocities. Inter-population variability in growth curves in the case of femoral and humeral dimensions were most pronounced during infancy (0–2 years). The most consistent differences in bone growth and related dimensions are between Zwölfaxing and the other samples. No significant differences in growth were detected between the Anglo-Saxon and the Austrian populations.

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Morphological change in cranial shape following the transition to agriculture across western Eurasia

2016-09-13, Cheronet, Olivia, Finarelli, John A., Pinhasi, Ron

The Neolithic transition brought about fundamental social, dietary and behavioural changes in human populations, which, in turn, impacted skeletal morphology. Crania are shaped through diverse genetic, ontogenetic and environmental factors, reflecting various elements of an individual’s life. To determine the transition’s effect on cranial morphology, we investigated its potential impact on the face and vault, two elements potentially responding to different influences. Three datasets from geographically distant regions (Ukraine, Iberia, and the Levant plus Anatolia) were analysed. Craniometric measurements were used to compare the morphology of pre-transition populations with that of agricultural populations. The Neolithic transition corresponds to a statistically significant increase only in cranial breadth of the Ukrainian vaults, while facial morphology shows no consistent transformations, despite expected changes related to the modification of masticatory behaviour. The broadening of Ukrainian vaults may be attributable to dietary and/or social changes. However, the lack of change observed in the other geographical regions and the lack of consistent change in facial morphology are surprising. Although the transition from foraging to farming is a process that took place repeatedly across the globe, different characteristics of transitions seem responsible for idiosyncratic responses in cranial morphology.