Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model.

ABSTRACT: The multiple genetic approaches available for molecular diagnosis of human diseases have made possible to identify an increasing number of pathogenic genetic changes, particularly with the advent of next generation sequencing (NGS) technologies. However, the main challenge lies in the interpretation of their functional impact, which has resulted in the widespread use of animal models. We describe here the functional modelling of seven BBS loci variants, most of them novel, in zebrafish embryos to validate their in silico prediction of pathogenicity. We show that target knockdown (KD) of known BBS (BBS1, BB5 or BBS6) loci leads to developmental defects commonly associated with ciliopathies, as previously described. These KD pleiotropic phenotypes were rescued by co-injecting human wild type

SUBMITTER: Castro-Sanchez S 

PROVIDER: S-EPMC6736949 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature