31 research outputs found

    A Comparative Osteometric Analysis of Ohio Hopewell Canid Remains

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    The topic of prehistoric dogs has seldom been explored in Ohio Hopewell archaeology. Paucity of information, unreliable data, and occasionally irreverent attitudes concerning canid remains in antiquity demonstrate the significance of new approaches to comparative osteometric studies. The purpose of this paper is to describe the canid remains from Site 40, located in Pickaway County, Ohio, and compare them metrically to the four canid specimens from Brown’s Bottom #1, located in Ross County, Ohio, all of which are curated at SUNY Geneseo. Additionally, to maximize the contrast, a comparison is made with the wolf/dog skeleton from the Philo II, Fort Ancient culture site, located in Muskingum County, Ohio, which is also curated at SUNY Geneseo. Precise reconstruction of the fragmented remains of the Site 40 canid, especially those of the cranium, was achieved according to MRM5 standards, facilitating osteometric analysis. The principal osteometric data which are explored statistically are derived from 44 specific measurements as explicitly outlined by WM G. Haag (1948), and others. Data collected from the Site 40 canid remains is expected to align with the Brown’s Bottom #1 canid specimens. If analyses at the magnitude of human remains is conducted, the symbiotic nature of domestic canids’ cooperation with Ohio Hopewell people will be clarified. The interpretation of these data may generate a more holistic understanding of domestic dogs in Ohio Hopewell culture and the Eastern Woodlands in general

    Finishing the euchromatic sequence of the human genome

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    The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

    26th Annual Computational Neuroscience Meeting (CNS*2017): Part 3 - Meeting Abstracts - Antwerp, Belgium. 15–20 July 2017

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    This work was produced as part of the activities of FAPESP Research,\ud Disseminations and Innovation Center for Neuromathematics (grant\ud 2013/07699-0, S. Paulo Research Foundation). NLK is supported by a\ud FAPESP postdoctoral fellowship (grant 2016/03855-5). ACR is partially\ud supported by a CNPq fellowship (grant 306251/2014-0)

    Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

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    Background Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure. Methods We generated a progression score on the basis of principal component analysis of prospectively acquired longitudinal changes in motor, cognitive, and imaging measures in the 218 indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008–11). We generated a parallel progression score using data from 1773 previously genotyped participants from the European Huntington's Disease Network REGISTRY study of Huntington's disease mutation carriers (data collected 2003–13). We did a genome-wide association analyses in terms of progression for 216 TRACK-HD participants and 1773 REGISTRY participants, then a meta-analysis of these results was undertaken. Findings Longitudinal motor, cognitive, and imaging scores were correlated with each other in TRACK-HD participants, justifying use of a single, cross-domain measure of disease progression in both studies. The TRACK-HD and REGISTRY progression measures were correlated with each other (r=0·674), and with age at onset (TRACK-HD, r=0·315; REGISTRY, r=0·234). The meta-analysis of progression in TRACK-HD and REGISTRY gave a genome-wide significant signal (p=1·12 × 10−10) on chromosome 5 spanning three genes: MSH3, DHFR, and MTRNR2L2. The genes in this locus were associated with progression in TRACK-HD (MSH3 p=2·94 × 10−8 DHFR p=8·37 × 10−7 MTRNR2L2 p=2·15 × 10−9) and to a lesser extent in REGISTRY (MSH3 p=9·36 × 10−4 DHFR p=8·45 × 10−4 MTRNR2L2 p=1·20 × 10−3). The lead single nucleotide polymorphism (SNP) in TRACK-HD (rs557874766) was genome-wide significant in the meta-analysis (p=1·58 × 10−8), and encodes an aminoacid change (Pro67Ala) in MSH3. In TRACK-HD, each copy of the minor allele at this SNP was associated with a 0·4 units per year (95% CI 0·16–0·66) reduction in the rate of change of the Unified Huntington's Disease Rating Scale (UHDRS) Total Motor Score, and a reduction of 0·12 units per year (95% CI 0·06–0·18) in the rate of change of UHDRS Total Functional Capacity score. These associations remained significant after adjusting for age of onset. Interpretation The multidomain progression measure in TRACK-HD was associated with a functional variant that was genome-wide significant in our meta-analysis. The association in only 216 participants implies that the progression measure is a sensitive reflection of disease burden, that the effect size at this locus is large, or both. Knockout of Msh3 reduces somatic expansion in Huntington's disease mouse models, suggesting this mechanism as an area for future therapeutic investigation

    Probing solution behaviour of metallosupramolecular complexes using pyrene fluorescence

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    A new method for assessing the topology of metallosupramolecular assemblies using pyrene-appended ligands is reported. Two potentially tetradentate ligands containing one (L1) and two (L2) terminal pyrene moieties were synthesised and their complexes with Cu+ and Cd2+ were characterised. Photophysical measurements demonstrate that in [Cu2(L1)2]2+, [CdL1]2+ and [Cu2(L2)2]2+ the emission spectra are dominated by monomeric emission but in the cadmium complex of L2 (where the pyrene units are in close proximity) a quenching of the luminescence coupled with weak emission at 540 nm is indicative of excimer formation
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