54 results found
    1. Evolutionary Biology
    2. Genetics and Genomics

    The evolutionary history of human spindle genes includes back-and-forth gene flow with Neandertals

    Stéphane Peyrégne, Janet Kelso ... Svante Pääbo
    Analyses of spindle genes with missense changes in modern humans reveal evidence for positive selection since the split with archaic humans and show that modern humans interacted with Neandertals more than once in the past 200,000 years.
    1. Evolutionary Biology
    2. Genetics and Genomics

    Regulatory dissection of the severe COVID-19 risk locus introgressed by Neanderthals

    Evelyn Jagoda, Davide Marnetto ... Terence D Capellini
    Key functional variants, discovered using Massively Parallel Reporter Assay (MPRA) and reporter assays in the context of SARS-CoV-2 infection, support the importance of two critical chemokine receptor genes CCR1 and CCR5 in severe Covid-19 illness.
    1. Evolutionary Biology
    2. Genetics and Genomics

    The lingering effects of Neanderthal introgression on human complex traits

    Xinzhu Wei, Christopher R Robles ... Sriram Sankararaman
    Genetic variants introgressed into modern humans from Neanderthals tend to be depleted in their contribution to heritable trait variation relative to modern human variants consistent with the action of purifying selection.
    1. Evolutionary Biology
    2. Genetics and Genomics

    Haplotypes spanning centromeric regions reveal persistence of large blocks of archaic DNA

    Sasha A Langley, Karen H Miga ... Charles H Langley
    Genomic polymorphism across centromeric regions of humans is organized into large-scale haplotypes with great diversity, including entire Neanderthal centromeres.
    1. Evolutionary Biology
    2. Genetics and Genomics

    Local adaptation and archaic introgression shape global diversity at human structural variant loci

    Stephanie M Yan, Rachel M Sherman ... Rajiv C McCoy
    Graph genotyping of structural variation in diverse human populations reveals functional associations and signatures of local adaptation within poorly resolved regions of the genome.
    1. Evolutionary Biology

    Reduced purine biosynthesis in humans after their divergence from Neandertals

    Vita Stepanova, Kaja Ewa Moczulska ... Svante Pääbo
    Purine biosynthesis is reduced in humans due to a single amino acid substitution in adenylosuccinate lyase that occurred subsequent to the divergence of modern humans from Neandertals.
    1. Evolutionary Biology
    2. Genetics and Genomics

    Balancing selection on genomic deletion polymorphisms in humans

    Alber Aqil, Leo Speidel ... Omer Gokcumen
    The effect of balancing selection on the human genome is greater than previously appreciated, especially affecting large deletion variations.
    1. Computational and Systems Biology
    2. Genetics and Genomics

    Detecting adaptive introgression in human evolution using convolutional neural networks

    Graham Gower, Pablo Iáñez Picazo ... Fernando Racimo
    Convolutional neural networks are an effective tool for detecting archaic adaptive introgression from genomic data.
    1. Evolutionary Biology

    New fossils of Australopithecus sediba reveal a nearly complete lower back

    Scott A Williams, Thomas Cody Prang ... Lee R Berger
    Newly recovered lumbar vertebrae belonging to Malapa Hominin 2, an adult female of the fossil hominin species Australopithecus sediba, demonstrate that this individual was adapted to upright posture and bipedal locomotion but also had adaptations for climbing in trees.

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