Human Mutations in Arl3, a Small GTPase Involved in Lipidated Cargo Delivery to the Cilia, Cause Retinal Dystrophy

Amanda M Travis; Jillian N Pearring

doi:10.1007/978-3-031-27681-1_41

Human Mutations in Arl3, a Small GTPase Involved in Lipidated Cargo Delivery to the Cilia, Cause Retinal Dystrophy

Adv Exp Med Biol. 2023:1415:283-288. doi: 10.1007/978-3-031-27681-1_41.

Authors

Amanda M Travis¹, Jillian N Pearring^{2

3}

Affiliations

¹ Department of Ophthalmology and Visual Science, University of Michigan, Ann Arbor, MI, USA.
² Department of Ophthalmology and Visual Science, University of Michigan, Ann Arbor, MI, USA. [email protected].
³ Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, MI, USA. [email protected].

PMID: 37440046
DOI: 10.1007/978-3-031-27681-1_41

Abstract

Photoreceptors are highly polarized sensory neurons. Precise localization of signaling molecules within the ciliary outer segment is critical for photoreceptor function and viability. The small GTPase Arl3 plays a particularly important role in photoreceptors as it regulates outer segment enrichment of lipidated proteins essential for the visual response: transducin-α, transducin-γ, PDEα, PDE β, and Grk1. Recently, mutations in Arl3 have been identified in human patients with nonsyndromic autosomal recessive and dominant inherited retinal degenerations as well as syndromic Joubert syndrome including retinal dystrophy.

Keywords: Arl13B; Arl3; Photoreceptors; RP2; Retinal dystrophy.

MeSH terms

ADP-Ribosylation Factors / genetics
Cilia / genetics
Cilia / metabolism
Humans
Monomeric GTP-Binding Proteins* / metabolism
Mutation
Retinal Dystrophies* / genetics
Transducin / metabolism

Substances

Monomeric GTP-Binding Proteins
Transducin
ADP-Ribosylation Factors