Ontology highlight
ABSTRACT:
SUBMITTER: Rachel RA
PROVIDER: S-EPMC4459394 | biostudies-literature | 2015 Jul
REPOSITORIES: biostudies-literature
Rachel Rivka A RA Yamamoto Erin A EA Dewanjee Mrinal K MK May-Simera Helen L HL Sergeev Yuri V YV Hackett Alice N AN Pohida Katherine K Munasinghe Jeeva J Gotoh Norimoto N Wickstead Bill B Fariss Robert N RN Dong Lijin L Li Tiansen T Swaroop Anand A
Human molecular genetics 20150409 13
Distinct mutations in the centrosomal-cilia protein CEP290 lead to diverse clinical findings in syndromic ciliopathies. We show that CEP290 localizes to the transition zone in ciliated cells, precisely to the region of Y-linkers between central microtubules and plasma membrane. To create models of CEP290-associated ciliopathy syndromes, we generated Cep290(ko/ko) and Cep290(gt/gt) mice that produce no or a truncated CEP290 protein, respectively. Cep290(ko/ko) mice exhibit early vision loss and d ...[more]