AUTHOR=Álvarez-Satta María , Lago-Docampo Mauro , Bea-Mascato Brais , Solarat Carlos , Castro-Sánchez Sheila , Christensen Søren T. , Valverde Diana 

TITLE=ALMS1 Regulates TGF-β Signaling and Morphology of Primary Cilia

JOURNAL=Frontiers in Cell and Developmental Biology

VOLUME=Volume 9 - 2021

YEAR=2021

URL=https://www.frontiersin.org/journals/cell-and-developmental-biology/articles/10.3389/fcell.2021.623829

DOI=10.3389/fcell.2021.623829

ISSN=2296-634X

ABSTRACT=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. 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.