21 research outputs found

    Ekstasen: Love Poetry by Felix Hausdorff

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    Four poems by the mathematician Felix Hausdorff are presented in English translation, together with their German originals and commentary about Hausdorff’s multidisciplinary achievements

    Sequence divergence of Mus spretus and Mus musculus across a skin cancer susceptibility locus

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    <p>Abstract</p> <p>Background</p> <p><it>Mus spretus </it>diverged from <it>Mus musculus </it>over one million years ago. These mice are genetically and phenotypically divergent. Despite the value of utilizing <it>M. musculus </it>and <it>M. spretus </it>for quantitative trait locus (QTL) mapping, relatively little genomic information on <it>M. spretus </it>exists, and most of the available sequence and polymorphic data is for one strain of <it>M. spretus</it>, Spret/Ei. In previous work, we mapped fifteen loci for skin cancer susceptibility using four different <it>M. spretus </it>by <it>M. musculus </it>F1 backcrosses. One locus, <it>skin tumor susceptibility 5 </it>(<it>Skts5</it>) on chromosome 12, shows strong linkage in one cross.</p> <p>Results</p> <p>To identify potential candidate genes for <it>Skts5</it>, we sequenced 65 named and unnamed genes and coding elements mapping to the peak linkage area in outbred <it>spretus</it>, Spret/EiJ, FVB/NJ, and NIH/Ola. We identified polymorphisms in 62 of 65 genes including 122 amino acid substitutions. To look for polymorphisms consistent with the linkage data, we sequenced exons with amino acid polymorphisms in two additional <it>M. spretus </it>strains and one additional <it>M. musculus </it>strain generating 40.1 kb of sequence data. Eight candidate variants were identified that fit with the linkage data. To determine the degree of variation across <it>M. spretus</it>, we conducted phylogenetic analyses. The relatedness of the <it>M. spretus </it>strains at this locus is consistent with the proximity of region of ascertainment of the ancestral mice.</p> <p>Conclusion</p> <p>Our analyses suggest that, if <it>Skts5 </it>on chromosome 12 is representative of other regions in the genome, then published genomic data for Spret/EiJ are likely to be of high utility for genomic studies in other <it>M. spretus </it>strains.</p

    Transancestral mapping and genetic load in systemic lupus erythematosus

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    Systemic lupus erythematosus (SLE) is an autoimmune disease with marked gender and ethnic disparities. We report a large transancestral association study of SLE using Immunochip genotype data from 27,574 individuals of European (EA), African (AA) and Hispanic Amerindian (HA) ancestry. We identify 58 distinct non-HLA regions in EA, 9 in AA and 16 in HA (∼50% of these regions have multiple independent associations); these include 24 novel SLE regions (P<5 × 10-8), refined association signals in established regions, extended associations to additional ancestries, and a disentangled complex HLA multigenic effect. The risk allele count (genetic load) exhibits an accelerating pattern of SLE risk, leading us to posit a cumulative hit hypothesis for autoimmune disease. Comparing results across the three ancestries identifies both ancestry-dependent and ancestry-independent contributions to SLE risk. Our results are consistent with the unique and complex histories of the populations sampled, and collectively help clarify the genetic architecture and ethnic disparities in SLE.info:eu-repo/semantics/publishedVersio

    Transancestral mapping and genetic load in systemic lupus erythematosus

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    Systemic lupus erythematosus (SLE) is an autoimmune disease with marked gender and ethnic disparities. We report a large transancestral association study of SLE using Immunochip genotype data from 27,574 individuals of European (EA), African (AA) and Hispanic Amerindian (HA) ancestry. We identify 58 distinct non-HLA regions in EA, 9 in AA and 16 in HA (B50% of these regions have multiple independent associations); these include 24 novel SLE regions (Po5 10 8), refined association signals in established regions, extended associations to additional ancestries, and a disentangled complex HLA multigenic effect. The risk allele count (genetic load) exhibits an accelerating pattern of SLE risk, leading us to posit a cumulative hit hypothesis for autoimmune disease. Comparing results across the three ancestries identifies both ancestry-dependent and ancestry-independent contributions to SLE risk. Our results are consistent with the unique and complex histories of the populations sampled, and collectively help clarify the genetic architecture and ethnic disparities in SL

    Lupus in the Mid-20th Century

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