9 results found
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    In vivo Firre and Dxz4 deletion elucidates roles for autosomal gene regulation

    Daniel Andergassen et al.
    The X-linked loci Firre and Dxz4 are involved in autosomal gene regulation rather than XCI biology.
    1. Chromosomes and Gene Expression

    NuRD and CAF-1-mediated silencing of the D4Z4 array is modulated by DUX4-induced MBD3L proteins

    Amy E Campbell et al.
    CRISPR/Cas9 engineered locus-specific proteomics leads to the identification of NuRD, CAF-1, and MBD3L2 as regulators of the early embryonic transcription factor DUX4.
    1. Genetics and Genomics

    A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy

    Qing Feng et al.
    Expression of the disease gene DUX4 inhibits RNA quality control in skeletal muscle, thereby stabilizing thousands of aberrant RNAs, including its own transcript.
    1. Cell Biology
    2. Chromosomes and Gene Expression

    Alpha-satellite RNA transcripts are repressed by centromere–nucleolus associations

    Leah Bury et al.
    Single molecule FISH analysis defines the behavior of centromere-derived alpha-satellite transcripts in intact human cells and reveals a critical role for centromere-nucleolar contacts in repressing alpha-satellite transcription.
    1. Evolutionary Biology
    2. Genetics and Genomics

    A common 1.6 mb Y-chromosomal inversion predisposes to subsequent deletions and severe spermatogenic failure in humans

    Pille Hallast et al.
    In addition to its academic merits, characterizing the genetic determinants of male (in)fertility and identifying clinically actionable genetic variants can lead to improved diagnosis or even treatment of such conditions.
    1. Cell Biology

    The membrane-associated proteins FCHo and SGIP are allosteric activators of the AP2 clathrin adaptor complex

    Gunther Hollopeter et al.
    Endocytosis is triggered by membrane-associated proteins that transform the clathrin adaptor into an active complex.
    1. Evolutionary Biology
    2. Genetics and Genomics

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

    Sasha A Langley et al.
    Genomic polymorphism across centromeric regions of humans is organized into large-scale haplotypes with great diversity, including entire Neanderthal centromeres.
    1. Developmental Biology

    Cellular interpretation of the long-range gradient of Four-jointed activity in the Drosophila wing

    Rosalind Hale et al.
    Opposing gradients of Fat and Dachsous phosphorylation are sufficient to explain the observed pattern of Fat-Dachsous planar polarisation across the Drosophila wing.
    1. Cell Biology

    Ret function in muscle stem cells points to tyrosine kinase inhibitor therapy for facioscapulohumeral muscular dystrophy

    Louise A Moyle et al.
    Rescue of DUX4-induced muscle pathology by the RET inhibitor Sunitinib reveals the therapeutic potential for treatment of Facioscapulohumeral muscular dystrophy using tyrosine kinase inhibitors.

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