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    1. Microbiology and Infectious Disease

    Rare missense variants in the human cytosolic antibody receptor preserve antiviral function

    Jingwei Zeng et al.
    Studying the impact of natural variation on a key immune gene highlights how focusing on a single wild-type sequence overlooks that rare variants cause the most disease.
    1. Genetics and Genomics
    2. Neuroscience

    Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay

    Myungjin Kim et al.
    A genetic mutation that impairs autophagic flux leads to neurodegeneration and can cause ataxia and developmental delay in children.
    1. Genetics and Genomics
    2. Cancer Biology

    Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer

    Young Seok Ju et al.
    Identifying 1,907 mitochondrial somatic mutations from 1,675 tumor tissues provides new insights into the causes and effects of the mitochondrial genome mutations found in human cancers.
    1. Cancer Biology
    2. Structural Biology and Molecular Biophysics

    Zinc shapes the folding landscape of p53 and establishes a pathway for reactivating structurally diverse cancer mutants

    Adam R Blanden et al.
    p53 folding is critically dependent on zinc, and a synthetic metallochaperone rescues tumorigenic mutations that reduce p53's zinc affinity as well as thermodynamic stability.
    1. Cancer Biology
    2. Computational and Systems Biology

    Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome

    Amanda B Abildgaard et al.
    Biophysical modeling, performed in silico, can predict the abundance, metabolic stability, and function of MLH1 inside living cells.
    1. Genetics and Genomics

    An incoherent feedforward loop facilitates adaptive tuning of gene expression

    Jungeui Hong et al.
    The architecture of a gene regulatory network determines the effect of evolutionary changes in transcription factor binding.
    1. Genetics and Genomics
    2. Medicine

    Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study

    Chiara Fallerini et al.
    In the context of susceptibility to severe COVID-19, the observations of a study provide the basis for a personalized interferon-based therapy in patients with rare TLR7 variants.
    1. Medicine

    Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes

    Lorenzo Alamo et al.
    Mapping the locations of hypertrophic cardiomyopathy gene variants onto the three-dimensional structures of contractile proteins revealed that these disrupt protein interactions are critical for normal cardiac relaxation and efficient energy usage.
    1. Neuroscience

    Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice

    Laura Dean Heckman et al.
    Transgenic mice with Rett-causing mutations in MeCP2 reveal that a basic cluster in the C-terminus of the protein binds DNA and that both the methyl-CpG binding domain and the transcriptional repression domain are necessary to elicit toxicity in MECP2 duplication syndrome.
    1. Evolutionary Biology
    2. Genetics and Genomics

    A natural variant of the essential host gene MMS21 restricts the parasitic 2-micron plasmid in Saccharomyces cerevisiae

    Michelle Hays et al.
    A novel assay to measure 2-micron stability together with a survey of natural variation among Saccharomyces cerevisiae strains reveals novel means by which yeasts can combat the parasitic 2-micron plasmids.