Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome.

ABSTRACT: Townes-Brocks syndrome (TBS) is characterized by a spectrum of malformations in the digits, ears, and kidneys. These anomalies overlap those seen in a growing number of ciliopathies, which are genetic syndromes linked to defects in the formation or function of the primary cilia. TBS is caused by mutations in the gene encoding the transcriptional repressor SALL1 and is associated with the presence of a truncated protein that localizes to the cytoplasm. Here, we provide evidence that SALL1 mutations might cause TBS by means beyond its transcriptional capacity. By using proximity proteomics, we show that truncated SALL1 interacts with factors related to cilia function, including the negative regulators of ciliogenesis CCP110 and CEP97. This most likely contributes to more frequent cilia forma

SUBMITTER: Bozal-Basterra L 

PROVIDER: S-EPMC5985538 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature