1,208 results found
    1. Genetics and Genomics

    Large, three-generation human families reveal post-zygotic mosaicism and variability in germline mutation accumulation

    Thomas A Sasani et al.
    Rates of germline mutation accumulation are highly variable across families of similar genetic ancestry, and post-zygotic mosaicism is a substantial source of de novo mutations.
    1. Evolutionary Biology
    2. Genetics and Genomics

    Testis single-cell RNA-seq reveals the dynamics of de novo gene transcription and germline mutational bias in Drosophila

    Evan Witt et al.
    Single-cell RNA-sequencing and germline substitutions provide novel insights into how testis is a hotspot for evolutionary innovation of genes, expression, and mutation at the single-cell level.
    1. Stem Cells and Regenerative Medicine

    Ovaries absent links dLsd1 to HP1a for local H3K4 demethylation required for heterochromatic gene silencing

    Fu Yang et al.
    A Drosophila fertility gene is identified that acts as a linker between HP1a and local H3K4 demethylation during HP1a-mediated gene silencing that is required for ovary development and transposon silencing..
    1. Immunology and Inflammation
    2. Physics of Living Systems

    Role of framework mutations and antibody flexibility in the evolution of broadly neutralizing antibodies

    Victor Ovchinnikov et al.
    Computer simulations of the evolution of broadly neutralizing antibodies against HIV suggest that non-traditional pathways involving framework mutations which lead initially to increased antibody flexibility do occur, but can be avoided by appropriate vaccine design.
    1. Genetics and Genomics

    One-step efficient generation of dual-function conditional knockout and geno-tagging alleles in zebrafish

    Wenyuan Li et al.
    Conditional gene knockout in combination with fluorescent labeling of different alleles can be achieved with high efficiency in zebrafish through NHEJ-mediated targeted insertion using a CRISPR/Cas system.
    1. Genetics and Genomics

    Whole-genome sequencing analysis of semi-supercentenarians

    Paolo Garagnani et al.
    Genetic variants located in DNA repair genes and a reduced burden of somatic mutations protect the oldest living persons from age-related diseases, allowing an healthy aging phenotype.
    1. Chromosomes and Gene Expression

    A tudor domain protein, SIMR-1, promotes siRNA production at piRNA-targeted mRNAs in C. elegans

    Kevin I Manage et al.
    SIMR-1 acts downstream of the piRNA pathway to promote siRNA amplification by the Mutator complex and localizes to perinuclear foci distinct from Mutator foci, P granules and Z granules.
    1. Cancer Biology

    Use of signals of positive and negative selection to distinguish cancer genes and passenger genes

    László Bányai et al.
    In contrast with earlier conclusions, negative selection has a major role in cancer evolution.
    1. Cancer Biology
    2. Genetics and Genomics

    Abnormal oxidative metabolism in a quiet genomic background underlies clear cell papillary renal cell carcinoma

    Jianing Xu et al.
    A distinct class of kidney tumors is characterized not by patterns of somatic mutations, but by a distinct metabolism.
    1. Developmental Biology
    2. Structural Biology and Molecular Biophysics

    Engineering a conserved RNA regulatory protein repurposes its biological function in vivo

    Vandita D Bhat et al.
    Motif length plays a critical role in the specification of biological function within a conserved family of RNA-binding proteins.

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