8 research outputs found

    An account of conserved functions and how biologists use them to integrate cell and evolutionary biology

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    In this paper, we characterize a type of functional explanation that addresses why a homologous trait that originated deep in the evolutionary history of a clade is observed to have remained widespread and largely unchanged across many lineages in the clade. We argue this type of explanation is provided when evolutionary biologists attribute conserved functions to traits, both phenotypic and genetic. The concept of conserved function applies broadly to many biological domains, but we illustrate its importance in particular using examples at the intersection of evolution and cell biology. We also show how the study of conserved functions serves to integrate knowledge of both a trait’s evolutionary history of natural selection and its causal effects on fitness, but in an overlooked way that does not rely on positive selection. Moreover, we show how conserved function provides a novel basis for addressing several objections against evolutionary functions raised by Robert Cummins

    Genetic variation at the SLC23A1 locus is associated with circulating concentrations of L-ascorbic acid (vitamin C): evidence from 5 independent studies with >15,000 participants

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    BACKGROUND L-Ascorbic acid is an essential part of the human diet and has been associated with a wide range of chronic complex diseases, including cardiovascular outcomes. To date, there are no confirmed genetic correlates of circulating concentrations of L-ascorbic acid. OBJECTIVE We aimed to confirm the existence of an association between common variation at the SLC23A1 gene locus and circulating concentrations of L-ascorbic acid. Design: We used a 2-stage design, which included a discovery cohort (the British Women's Heart and Health Study), a series of follow-up cohorts, and meta-analysis (totaling 15,087 participants) to assess the relation between variation at SLC23A1 and circulating concentrations of L-ascorbic acid. RESULTS In the discovery cohort, variation at rs33972313 was associated with a reduction in circulating concentrations of L-ascorbic acid (-4.15 {micro}mol/L; 95% CI: -0.49, -7.81 {micro}mol/L; P = 0.03 reduction per minor allele). Pooled analysis of the relation between rs33972313 and circulating L-ascorbic acid across all studies confirmed this and showed that each additional rare allele was associated with a reduction in circulating concentrations of L-ascorbic acid of -5.98 {micro}mol/L (95% CI: -8.23, -3.73 {micro}mol/L; P = 2.0 x 10-7 per minor allele). CONCLUSIONS A genetic variant (rs33972313) in the SLC23A1 vitamin C active transporter locus was identified that is reliably associated with circulating concentrations of L-ascorbic acid in the general population. This finding has implications more generally for the epidemiologic investigation of relations between circulating L-ascorbic acid and health outcomes

    Unravelling the Neural Basis of Spatial Delusions After Stroke

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    Brainhack: Developing a culture of open, inclusive, community-driven neuroscience

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    Brainhack is an innovative meeting format that promotes scientific collaboration and education in an open, inclusive environment. This NeuroView describes the myriad benefits for participants and the research community and how Brainhacks complement conventional formats to augment scientific progress
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