38 results found
    1. Chromosomes and Gene Expression

    Trisomy 21 consistently activates the interferon response

    Kelly D Sullivan et al.
    Hyperactive interferon signaling is a hallmark of trisomy 21 and may contribute to many of the comorbidities associated with Down syndrome.
    1. Genetics and Genomics

    A non-mosaic transchromosomic mouse model of Down syndrome carrying the long arm of human chromosome 21

    Yasuhiro Kazuki et al.
    TcMAC21 is an appropriate “next gen” mouse model for DS research, and provides a proof of concept of using artificial chromosomes to generate non-mosaic humanized animal models of chromosome disorders.
    1. Developmental Biology

    Genetic dissection of Down syndrome-associated congenital heart defects using a new mouse mapping panel

    Eva Lana-Elola et al.
    A panel of seven new mouse strains with chromosomal duplications is used to identify a minimal genetic region required in three copies to cause congenital heart defects typical of human Down syndrome.
    1. Neuroscience

    Genomic mosaicism with increased amyloid precursor protein (APP) gene copy number in single neurons from sporadic Alzheimer's disease brains

    Diane M Bushman et al.
    Somatically derived genomic mosaicism in the form of increased DNA content and APP copy number in single neurons plausibly has a function in sporadic Alzheimer’s disease and points to functions for single-neuron gene copy number changes.
    1. Cell Biology
    2. Chromosomes and Gene Expression

    Chromosome mis-segregation and cytokinesis failure in trisomic human cells

    Joshua M Nicholson et al.
    Aneuploidy can cause chromosome mis-segregation and specific cellular phenotypes driven by expression of genes on the extra chromosome.
    1. Chromosomes and Gene Expression

    Successful transmission and transcriptional deployment of a human chromosome via mouse male meiosis

    Christina Ernst et al.
    Transmission of an entire human chromosome through the mouse male germline reveals an unexpectedly high tolerance of aneuploidy during male meiosis and results in accurate transcriptional deployment despite massive epigenetic remodeling during spermatogenesis.
    1. Chromosomes and Gene Expression

    The kinetochore prevents centromere-proximal crossover recombination during meiosis

    Nadine Vincenten et al.
    The meiotic DNA recombination landscape is locally influenced by the kinetochore to minimize potentially deleterious pericentromeric crossover recombination.
    1. Computational and Systems Biology
    2. Immunology and Inflammation

    The kinase DYRK1A reciprocally regulates the differentiation of Th17 and regulatory T cells

    Bernard Khor et al.
    A chemical biology approach has identified the kinase DYRK1A as a new regulator of the inflammatory response.
    1. Cell Biology
    2. Genetics and Genomics

    Micronuclei-based model system reveals functional consequences of chromothripsis in human cells

    Maja Kneissig et al.
    A method to generate human cells with massive chromosomal aberrations on a specific chromosome allows analysis of their consequences.

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