Susan Dutcher

Professor of Genetics, Professor of Cell Biology and Physiology, Interim Director of the McDonnell Genome Institute

    • 7346 Citations
    1981 …2020

    Research output per year

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    Research interests

    In the last few years, knowledge about the role of cilia in human biology has grown exponentially. Defects in cilia are connected to developmental defects as well as adult disorders including obesity and diabetes. Using the alga, Chlamydomonas, we have studied the maturation of basal bodies, the gating of proteins into the cilium, genetic interactions of intraflagellar transport proteins, ciliary motility, and signaling through the ciliary membrane proteins using genetics, cell biology and comparative genomics. These studies have lead to better understanding of the role of cilia in polycystic kidney disease and primary ciliary dyskinesia. Recently, we have examined the role of cilia genes in cancer.

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    Research Output

    Asymmetries in the cilia of Chlamydomonas

    Dutcher, S. K., Feb 17 2020, In : Philosophical Transactions of the Royal Society B: Biological Sciences. 375, 1792, 20190153.

    Research output: Contribution to journalReview article

    Open Access
  • 2 Scopus citations

    CCDC61/VFL3 Is a Paralog of SAS6 and Promotes Ciliary Functions

    Ochi, T., Quarantotti, V., Lin, H., Jullien, J., Rosa e Silva, I., Boselli, F., Barnabas, D. D., Johnson, C. M., McLaughlin, S. H., Freund, S. M. V., Blackford, A. N., Kimata, Y., Goldstein, R. E., Jackson, S. P., Blundell, T. L., Dutcher, S. K., Gergely, F. & van Breugel, M., Jan 1 2020, (Accepted/In press) In : Structure.

    Research output: Contribution to journalArticle

    Open Access
  • Cytoplasmic “ciliary inclusions” in isolation are not sufficient for the diagnosis of primary ciliary dyskinesia

    Vece, T. J., Sagel, S. D., Zariwala, M. A., Sullivan, K. M., Burns, K. A., Dutcher, S. K., Yusupov, R., Leigh, M. W. & Knowles, M. R., Jan 1 2020, In : Pediatric Pulmonology. 55, 1, p. 130-135 6 p.

    Research output: Contribution to journalArticle

  • 1 Scopus citations

    Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale

    TOPMed Lipids Working Group & NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Sep 1 2020, In : Nature Genetics. 52, 9, p. 969-983 15 p.

    Research output: Contribution to journalArticle