ALMS1 Regulates TGF-β Signaling and Morphology of Primary Cilia

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  • María Álvarez-Satta
  • Mauro Lago-Docampo
  • Brais Bea-Mascato
  • Carlos Solarat
  • Sheila Castro-Sánchez
  • Christensen, Søren Tvorup
  • Diana Valverde

In this study, we aimed to evaluate the role of ALMS1 in the morphology of primary cilia and regulation of cellular signaling using a knockdown model of the hTERT-RPE1 cell line. ALMS1 depletion resulted in the formation of longer cilia, which often displayed altered morphology as evidenced by extensive twisting and bending of the axoneme. Transforming growth factor beta/bone morphogenetic protein (TGF-β/BMP) signaling, which is regulated by primary cilia, was similarly affected by ALMS1 depletion as judged by reduced levels of TGFβ-1-mediated activation of SMAD2/3. These results provide novel information on the role of ALMS1 in the function of primary cilia and processing of cellular signaling, which when aberrantly regulated may underlie Alström syndrome.

Original languageEnglish
Article number623829
JournalFrontiers in Cell and Developmental Biology
Number of pages8
Publication statusPublished - 2021

    Research areas

  • ALMS1, Alström syndrome (AS), ciliary length, ciliary morphology, ciliopathies, hTERT RPE-1 cells, primary cilium, TGF-β/BMP signaling

ID: 257601810