Cluap1 is Essential for Ciliogenesis and Photoreceptor Maintenance in the Vertebrate Eye

Lee, Chanjae; Wallingford, John B.; Gross, Jeffrey M.

doi:10.1167/iovs.14-14888

Cited by 29 publications

(20 citation statements)

References 51 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…For example, forward genetic screens have identified mutations in several ciliary proteins, including intraflagellar transport (IFT) proteins such as Ift88, Ift172, Ift57 and Cluap1, that impact photoreceptor survival (Gross et al, 2005; Lee et al, 2014; Tsujikawa and Malicki, 2004). Knockdown of Ift172 results in the loss of photoreceptors as well (Bujakowska et al, 2015).…”

Section: Discussionmentioning

confidence: 99%

Eyes shut homolog is required for maintaining the ciliary pocket and survival of photoreceptors in zebrafish

Liu

et al. 2016

Biology Open

View full text Add to dashboard Cite

Mutations in the extracellular matrix protein eyes shut homolog (EYS) cause photoreceptor degeneration in patients with retinitis pigmentosa 25 (RP25). Functions of EYS remain poorly understood, due in part to the lack of an EYS gene in mouse. We investigated the localization of vertebrate EYS proteins and engineered loss-of-function alleles in zebrafish. Immunostaining indicated that EYS localized near the connecting cilium/transition zone in photoreceptors. EYS also strongly localized to the cone outer segments and weakly to the rod outer segments and cone terminals in primate retinas. Analysis of mutant EYS zebrafish revealed disruption of the ciliary pocket in cone photoreceptors, indicating that EYS is required for maintaining the integrity of the ciliary pocket lumen. Mutant zebrafish exhibited progressive loss of cone and rod photoreceptors. Our results indicate that EYS protein localization is species-dependent and that EYS is required for maintaining ciliary pocket morphology and survival of photoreceptors in zebrafish.

show abstract

Section: Discussionmentioning

confidence: 99%

Eyes shut homolog is required for maintaining the ciliary pocket and survival of photoreceptors in zebrafish

Liu

et al. 2016

Biology Open

View full text Add to dashboard Cite

show abstract

“…Clusterin associated protein 1, aka CLUAP1 , is specifically implicated in intraflagellar transport due to its bidirectional movement along the axoneme 50 . In fact, CLUAP1 is found to at the connecting cilium between the inner and outer segments of retinal photoreceptors 51 .…”

Section: Gene Discoveriesmentioning

confidence: 99%

Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee

Coussa

Solache

Koenekoop

2017

Ophthalmic Genetics

View full text Add to dashboard Cite

This article is dedicated to Irene Hussels-Maumenee, Professor of Human Genetics and Ophthalmology, Johns Hopkins’ Wilmer Eye Institute, Ocular Genetics Fellowship director in 1994–1995. Leber congenital amaurosis (LCA) has almost come full circle, from a profound and molecularly uncharacterized form of congenital retinal blindness to one in which a large number of causative genes and disease pathways are known; and the world’s first human retinal disease to be treated by gene therapy. Dr. Maumenee’s insights, efforts and leadership have contributed significantly to this remarkable scientific journey. In this manuscript, we present a short summary of the known LCA genes, LCA disease subtypes and emerging treatment options. Our manuscript consolidates previous knowledge with current findings in an attempt to provide a more comprehensive understanding of LCA.

show abstract

“…Studies in the mouse and in zebrafish have suggested that another protein, clusterin associated protein 1 (CLUAP1), is also associated with IFT, possibly as part of the IFT-B particle, and may be involved in regulating the transport at the base and tip of the cilia (96,97) . The knockout mouse of this gene has a severe phenotype and dies at embryonic mid-gestation (96) .…”

Section: Intraflagellar Transportmentioning

confidence: 99%

The cilium: a cellular antenna with an influence on obesity risk

et al. 2016

View full text Add to dashboard Cite

Primary cilia are organelles that are present on many different cell types, either transiently or permanently. They play a crucial role in receiving signals from the environment and passing these signals to other parts of the cell. In that way, they are involved in diverse processes such as adipocyte differentiation and olfactory sensation. Mutations in genes coding for ciliary proteins often have pleiotropic effects and lead to clinical conditions, ciliopathies, with multiple symptoms. In this study, we reviewed observations from ciliopathies with obesity as one of the symptoms. It shows that variation in cilia-related genes is itself not a major cause of obesity in the population but may be a part of the multifactorial aetiology of this complex condition. Both common polymorphisms and rare deleterious variants may contribute to the obesity risk. Genotype-phenotype relationships have been noticed. Among the ciliary genes, obesity differs with regard to severity and age of onset, which may relate to the influence of each gene on the balance between pro-and anti-adipogenic processes. Analysis of the function and location of the proteins encoded by these ciliary genes suggests that obesity is more linked to activities at the basal area of the cilium, including initiation of the intraflagellar transport, but less to the intraflagellar transport itself. Regarding the role of cilia, three possible mechanistic processes underlying obesity are described: adipogenesis, neuronal food intake regulation and food odour perception.

show abstract

Cluap1 is Essential for Ciliogenesis and Photoreceptor Maintenance in the Vertebrate Eye

Cited by 29 publications

References 51 publications

Eyes shut homolog is required for maintaining the ciliary pocket and survival of photoreceptors in zebrafish

Eyes shut homolog is required for maintaining the ciliary pocket and survival of photoreceptors in zebrafish

Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee

The cilium: a cellular antenna with an influence on obesity risk

Contact Info

Product

Resources

About