672 results found
    1. Evolutionary Biology

    Decreased recent adaptation at human mendelian disease genes as a possible consequence of interference between advantageous and deleterious variants

    Chenlu Di et al.
    Harmful genetic variants at mendelian disease genes slow down adaptation, by interfering with the spread of adaptive variants in a population.
    1. Cell Biology
    2. Developmental Biology

    Human embryo polarization requires PLC signaling to mediate trophectoderm specification

    Meng Zhu et al.
    Functional analyses of in vitro fertilized, preimplanation human embryos reveal that the first lineage segregation depends on cell polarization signaling that is regulated by Phospholipase C (PLC) activity.
    1. Genetics and Genomics

    The transcription factor Xrp1 is required for PERK-mediated antioxidant gene induction in Drosophila

    Brian Brown et al.
    The transcription factor Xrp1 mediates a previously unrecognized branch of stress-response signaling, specifically as a downstream effector of eIF2alpha kinases.
    1. Genetics and Genomics

    Utility of polygenic embryo screening for disease depends on the selection strategy

    Todd Lencz et al.
    Preimplantation screening of embryos using polygenic risk scores may substantially reduce risk for a given complex disease, but this effect depends on several quantifiable factors and raises significant ethical issues.
    1. Evolutionary Biology
    2. Genetics and Genomics

    A modified fluctuation assay reveals a natural mutator phenotype that drives mutation spectrum variation within Saccharomyces cerevisiae

    Pengyao Jiang et al.
    Certain mutational signatures vary in their contribution to genetic variation across the yeast phylogeny due to genetically encoded natural mutator phenotypes whose activity can be directly measured in the lab.
    1. Genetics and Genomics
    2. Microbiology and Infectious Disease

    Variation in human herpesvirus 6B telomeric integration, excision, and transmission between tissues and individuals

    Michael L Wood et al.
    Human herpesvirus 6B can transition between telomere-integrated and free viral forms, and frequent telomere-loop-driven partial or complete viral genome excision events create mosaicism in germline carriers of inherited chromosomally integrated HHV-6B.
    1. Evolutionary Biology
    2. Genetics and Genomics

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

    Stephanie M Yan et al.
    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. Developmental Biology

    Y chromosome functions in mammalian spermatogenesis

    Jeremie Subrini, James Turner
    The mammalian Y chromosome has become specialised for male fertility, but exact functions of individual Y genes remain poorly understood, a knowledge gap that new approaches can bridge.
    1. Evolutionary Biology

    Quantifying the relationship between genetic diversity and population size suggests natural selection cannot explain Lewontin’s Paradox

    Vince Buffalo
    Quantifying the relationship between census sizes and genetic diversity estimates provides insights into whether natural selection can explain the narrow range of diversity between species.

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