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    Poised chromatin in non-coding DNA enhancers sensitizes genes to aberrant activation, causing genetic disorders. This study reveals enhancer poising as a key mechanism underlying gain-of-function mutations and disease susceptibility.

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    Area of Science:

    • Genetics
    • Developmental Biology
    • Molecular Biology

    Background:

    • Single nucleotide variants in enhancers, non-coding DNA elements regulating transcription, can cause genetic disorders through aberrant gene activation.
    • The precise mechanisms driving ectopic gene activation by gain-of-function enhancer mutations are not fully understood.

    Purpose of the Study:

    • To investigate the role of enhancer poising in mediating aberrant gene activation by gain-of-function mutations.
    • To elucidate the mechanism by which enhancer variants lead to genetic disorders like polydactyly.

    Main Methods:

    • Utilized the ZRS enhancer of Sonic hedgehog (Shh) as a model system in mice.
    • Analyzed chromatin accessibility and histone modifications associated with enhancer activity.
    • Investigated the impact of disabling pioneer transcription factor binding on enhancer function and limb development.
    • Examined other disease-associated enhancers and predicted/validated enhancer activity in silico and in vivo.

    Main Results:

    • Demonstrated that poised chromatin at the ZRS sensitizes Shh to aberrant activation in the anterior limb bud, causing polydactyly.
    • Showed that over 20 independent ZRS variants cause Shh misexpression and limb malformations by exploiting this poised state.
    • Disabling pioneer transcription factor binding to the ZRS prevented aberrant activation and rescued limb malformations.
    • Identified enhancer poising as a common feature of disease-associated enhancers and predicted novel enhancer activities for autism-associated variants.

    Conclusions:

    • Spatial enhancer poising creates susceptibility to non-coding mutations, providing a mechanistic explanation for genetic disorders.
    • Enhancer poising is a critical factor in the pathogenicity of gain-of-function non-coding variants.
    • This mechanism offers insights into the etiology of various genetic disorders, including limb malformations and autism.