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Showing 1–10 of 10 results
Advanced filters: Author: Marco Osterwalder Clear advanced filters

  • A large-scale mouse study reveals that while existing epigenomic data detect many developmental enhancers, a substantial fraction is missed - highlighting the need for expanded resources to fully annotate enhancers genome-wide.

    • Brandon J. Mannion
    • Stella Tran
    • Len A. Pennacchio
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-11

  • Approximately a quarter of the human genome consists of gene deserts. Here, Abassah-Oppong et al. reveal the biological relevance, embryonic functions and underlying enhancer architecture of a genomic gene desert flanking the Shox2 transcription factor essential for limb, craniofacial and cardiac pacemaker development.

    • Samuel Abassah-Oppong
    • Matteo Zoia
    • Marco Osterwalder
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-24

  • Rajderkar et al. provide a genome-wide compendium of transcriptional enhancers active in human craniofacial development, along with single-cell resources for studies of mammalian craniofacial morphogenesis.

    • Sudha Sunil Rajderkar
    • Kitt Paraiso
    • Axel Visel
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-18

  • An efficient one-step method for re-engineering mouse mutant alleles harboring loxP and FRT sites is reported. It may be applied to the large collection of targeted alleles from the International Knockout Mouse Consortium.

    • Marco Osterwalder
    • Antonella Galli
    • Javier Lopez-Rios
    Research
    Nature Methods
    Volume: 7, P: 893-895

  • This study identifies three conserved shadow enhancers (T3, C, I) regulating notochord expression of Brachyury across vertebrates using genomic data, transgenic assays, and enhancer knockouts, which are critical for vertebrate notochord development.

    • Cassie L. Kemmler
    • Jana Smolikova
    • Alexa Burger
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-18

  • Many key developmental transcriptional regulators are broadly expressed but perform distinct functions in specific tissues. Here they show that ubiquitously expressed PBX factors gain limb bud functionality by interaction with HAND2, uncovering fundamental principles of cooperation between promiscuous and tissue-specific regulators to instruct developmental programs.

    • Marta Losa
    • Iros Barozzi
    • Licia Selleri
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-20

  • Identification of non-coding variants has outstripped our ability to annotate and interpret them. Dickel et al. present a compendium of over 80,000 putative human heart enhancers and demonstrate that two conserved enhancers are required for proper cardiac function in mice.

    • Diane E. Dickel
    • Iros Barozzi
    • Len A. Pennacchio
    ResearchOpen Access
    Nature Communications
    Volume: 7, P: 1-13

  • Stefan Mundlos, Darío Lupiáñez and colleagues investigate CNVs involving the regulatory landscape of IHH (Indian hedgehog), which cause craniosynostosis and synpolydactyly. Using genetic manipulation in mice, they show that Ihh is regulated by at least nine enhancers with individual tissue specificities and that duplications in this region can cause dose-dependent upregulation and also misexpression of Ihh.

    • Anja J Will
    • Giulia Cova
    • Stefan Mundlos
    Research
    Nature Genetics
    Volume: 49, P: 1539-1545