48 research outputs found

    Identifying the favored mutation in a positive selective sweep.

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    Most approaches that capture signatures of selective sweeps in population genomics data do not identify the specific mutation favored by selection. We present iSAFE (for "integrated selection of allele favored by evolution"), a method that enables researchers to accurately pinpoint the favored mutation in a large region (∌5 Mbp) by using a statistic derived solely from population genetics signals. iSAFE does not require knowledge of demography, the phenotype under selection, or functional annotations of mutations

    Time domains of hypoxia responses and -omics insights

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    The ability to respond rapidly to changes in oxygen tension is critical for many forms of life. Challenges to oxygen homeostasis, specifically in the contexts of evolutionary biology and biomedicine, provide important insights into mechanisms of hypoxia adaptation and tolerance. Here we synthesize findings across varying time domains of hypoxia in terms of oxygen delivery, ranging from early animal to modern human evolution and examine the potential impacts of environmental and clinical challenges through emerging multi-omics approaches. We discuss how diverse animal species have adapted to hypoxic environments, how humans vary in their responses to hypoxia (i.e., in the context of high-altitude exposure, cardiopulmonary disease, and sleep apnea), and how findings from each of these fields inform the other and lead to promising new directions in basic and clinical hypoxia research

    The 2018 Lake Louise Acute Mountain Sickness Score.

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    Roach, Robert C., Peter H. Hackett, Oswald Oelz, Peter BĂ€rtsch, Andrew M. Luks, Martin J. MacInnis, J. Kenneth Baillie, and The Lake Louise AMS Score Consensus Committee. The 2018 Lake Louise Acute Mountain Sickness Score. High Alt Med Biol 19:1-4, 2018.- The Lake Louise Acute Mountain Sickness (AMS) scoring system has been a useful research tool since first published in 1991. Recent studies have shown that disturbed sleep at altitude, one of the five symptoms scored for AMS, is more likely due to altitude hypoxia per se, and is not closely related to AMS. To address this issue, and also to evaluate the Lake Louise AMS score in light of decades of experience, experts in high altitude research undertook to revise the score. We here present an international consensus statement resulting from online discussions and meetings at the International Society of Mountain Medicine World Congress in Bolzano, Italy, in May 2014 and at the International Hypoxia Symposium in Lake Louise, Canada, in February 2015. The consensus group has revised the score to eliminate disturbed sleep as a questionnaire item, and has updated instructions for use of the score

    Genetic selection by high altitude: Beware of experiments at ambient conditions

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    Germination and short-term storage of Hippophae rhamnoides L. seeds and its ex-situ reintroduction potential assessment under North East Indian conditions

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    Germination efficiency of freshly harvested Hippophae rhamnoides seeds collected from cold desert of Ladakh outside its native place under in vivo glass house condition recorded a highest of 73% germination in soilrite at 22±2°C and 60–70% RH within three weeks at Guwahati, North East India. Germination of seeds was significantly enhancedto a maximum of 90% under in vitro condition in 1/4th Murashige & Skoog (MS) medium supplementedwith 3% sucrose and2% activatedcharcoal within two weeks. Glass house acclimatized healthy seedlings after been introduced to natural climatic conditions of Shillong and Guwahati of North East India showed inadequate survivability. Unlike storage at room temperature which is detrimental for seed viability, low temperature storage under refrigeration and natural climatic condition of Ladakh retains viability for prolonged period

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