51 research outputs found

    Ethnic and mouse strain differences in central corneal thickness and association with pigmentation phenotype

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    The cornea is a transparent structure that permits the refraction of light into the eye. Evidence from a range of studies indicates that central corneal thickness (CCT) is strongly genetically determined. Support for a genetic component comes from data showing significant variation in CCT between different human ethnic groups. Interestingly, these studies also appear to show that skin pigmentation may influence CCT. To validate these observations, we undertook the first analysis of CCT in an oculocutaneous albinism (OCA) and Ugandan cohort, populations with distinct skin pigmentation phenotypes. There was a significant difference in the mean CCT of the OCA, Ugandan and Australian-Caucasian cohorts (Ugandan: 517.3±37 µm; Caucasian: 539.7±32.8 µm, OCA: 563.3±37.2 µm; p<0.001). A meta-analysis of 53 studies investigating the CCT of different ethnic groups was then performed and demonstrated that darker skin pigmentation is associated with a thinner CCT (p<0.001). To further verify these observations, we measured CCT in 13 different inbred mouse strains and found a significant difference between the albino and pigmented strains (p = 0.008). Specific mutations within the melanin synthesis pathway were then investigated in mice for an association with CCT. Significant differences between mutant and wild type strains were seen with the nonagouti (p<0.001), myosin VA (p<0.001), tyrosinase (p = 0.025) and tyrosinase related protein (p = 0.001) genes. These findings provide support for our hypothesis that pigmentation is associated with CCT and identifies pigment-related genes as candidates for developmental determination of a non-pigmented structure.David P. Dimasi, Alex W. Hewitt, Kenneth Kagame, Sam Ruvama, Ludovica Tindyebwa, Bastien Llamas, Kirsty A. Kirk, Paul Mitchell, Kathryn P. Burdon and Jamie E. Crai

    Population and Environmental Correlates of Maize Yields in Mesoamerica: a Test of Boserup’s Hypothesis in the Milpa

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    Using a sample of 40 sources reporting milpa and mucuna-intercropped maize yields in Mesoamerica, we test Boserup’s (1965) prediction that fallow is reduced as a result of growing population density. We further examine direct and indirect effects of population density on yield. We find only mixed support for Boserupian intensification. Fallow periods decrease slightly with increasing population density in this sample, but the relationship is weak. Controlling for other covariates, fallow-unadjusted maize yields first rise then fall with population density. Fallow-adjusted maize yields peak at 390 kg/ha/yr for low population densities (8 persons / km2) and decline to around 280 kg/ha/yr for the highest population densities observed in our dataset. Fallow practices do not appear to mediate the relationship between population density and yield. The multi-level modeling methods we adopt allow for data clustering, accurate estimates of group-level variation, and they generate conditional predictions, all features essential to the comparative study of prehistoric and contemporary agricultural yields

    Search for gravitational waves associated with gamma-ray bursts detected by Fermi and Swift during the LIGO–Virgo run O3b

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    We search for gravitational-wave signals associated with gamma-ray bursts (GRBs) detected by the Fermi and Swift satellites during the second half of the third observing run of Advanced LIGO and Advanced Virgo (2019 November 1 15:00 UTC–2020 March 27 17:00 UTC). We conduct two independent searches: a generic gravitational-wave transients search to analyze 86 GRBs and an analysis to target binary mergers with at least one neutron star as short GRB progenitors for 17 events. We find no significant evidence for gravitational-wave signals associated with any of these GRBs. A weighted binomial test of the combined results finds no evidence for subthreshold gravitational-wave signals associated with this GRB ensemble either. We use several source types and signal morphologies during the searches, resulting in lower bounds on the estimated distance to each GRB. Finally, we constrain the population of low-luminosity short GRBs using results from the first to the third observing runs of Advanced LIGO and Advanced Virgo. The resulting population is in accordance with the local binary neutron star merger rate

    Malaria was a weak selective force in ancient Europeans

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    Malaria, caused by Plasmodium parasites, is thought to be one of the strongest selective forces that has shaped the genome of modern humans and was endemic in Europe until recent times. Due to its eradication around mid-twentieth century, the potential selective history of malaria in European populations is largely unknown. Here, we screen 224 ancient European genomes from the Upper Palaeolithic to the post-Roman period for 22 malaria-resistant alleles in twelve genes described in the literature. None of the most specific mutations for malaria resistance, like those at G6PD, HBB or Duffy blood group, have been detected among the available samples, while many other malaria-resistant alleles existed well before the advent of agriculture. We detected statistically significant differences between ancient and modern populations for the ATP2B4, FCGR2B and ABO genes and we found evidence of selection at IL-10 and ATP2B4 genes. However it is unclear whether malaria is the causative agent, because these genes are also involved in other immunological challenges. These results suggest that the selective force represented by malaria was relatively weak in Europe, a fact that could be associated to a recent historical introduction of the severe malaria pathogen.This research was supported by a grant to C.L.-F. from FEDER and Ministry of Economy and Competitiveness (BFU2015–64699-P) of Spain and by a grant 2014 SGR 464 (GRBIO) from the Departament d’Economia i Coneixement de la Generalitat de Catalunya (Spain) to S.C. We are grateful to Joshua Schraiber and Agnar Helgason for helpful comments and suggestions
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