Generation and characterization of Ccdc28b mutant mice links the Bardet-Biedl associated gene with mild social behavioral phenotypes

Matías Fabregat, Sofía Niño-Rivero, Sabrina Pose, Magdalena CárdenasRodríguez, Mariana Bresque, Karina Hernández, Victoria Prieto-Echagüe, Geraldine Schlapp, Martina Crispo, Patricia Lagos, Natalia Lago Perez, Carlos Escande, Florencia Irigoín*, Jose L. Badano

*Autor corresponent d’aquest treball

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CCDC28B (coiled-coil domain-containing protein 28B) was identified as a modifier in the ciliopathy Bardet-Biedl syndrome (BBS). Our previous work in cells and zebrafish showed that CCDC28B plays a role regulating cilia length in a mechanism that is not completely understood. Here we report the generation of a Ccdc28b mutant mouse using CRISPR/ Cas9 (Ccdc28b mut). Depletion of CCDC28B resulted in a mild phenotype. Ccdc28b mut animals i) do not present clear structural cilia affectation, although we did observe mild defects in cilia density and cilia length in some tissues, ii) reproduce normally, and iii) do not develop retinal degeneration or obesity, two hallmark features of reported BBS murine models. In contrast, Ccdc28b mut mice did show clear social interaction defects as well as stereotypical behaviors. This finding is indeed relevant regarding CCDC28B as a modifier of BBS since behavioral phenotypes have been documented in BBS. Overall, this work reports a novel mouse model that will be key to continue evaluating genetic interactions in BBS, deciphering the contribution of CCDC28B to modulate the presentation of BBS phenotypes. In addition, our data underscores a novel link between CCDC28B and behavioral defects, providing a novel opportunity to further our understanding of the genetic, cellular, and molecular basis of these complex phenotypes.
Idioma originalEnglish
Número d’articlee1009896
Nombre de pàgines24
RevistaPloS Genetics
Estat de la publicacióPublicada - 2 de juny 2022


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