Roles for ELMOD2 and Rootletin in ciliogenesis

Turn, Rachel E; Linnert, Joshua; Gigante, Eduardo D.; Wolfrum, Uwe; Caspary, Tamara; Kahn, Richard

doi:10.1091/mbc.e20-10-0635

Cited by 21 publications

(60 citation statements)

References 138 publications

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“…ELMOD2 localizes to the basal body, and our study showed ELMOD3 localizes to cilium (Turn et al, 2021). Taking into account the fact that RPI-2 and ELMD-1 are GAPs, and loss of these two GAP proteins likely result in the overactivation of their target G proteins, how does WDR-31 function with these GAP proteins?…”

Section: Functional Redundancy Between Wdr-31 Elmd-1 and Rpi-2mentioning

confidence: 81%

WDR31 is a novel ciliopathy protein displaying functional redundancy with GTPase-activating proteins ELMOD and RP2 in recruiting BBSome to cilium

Cevik

AlAbdi

Peng

et al. 2021

Preprint

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The term “ciliopathy” refers to a group of over 35 rare disorders characterized by defective cilia and many overlapping clinical features, such as hydrocephalus, cerebellar vermis hypoplasia, polydactyly, and retinopathy. Even though many genes have been implicated in ciliopathies, the genetic pathogenesis in certain cases remains still undisclosed. Here, we identified a homozygous truncating variant in WDR31 in a patient with a typical ciliopathy phenotype encompassing congenital hydrocephalus, polydactyly, and renal agenesis. WDR31 is an evolutionarily conserved protein that localizes to the cilium and cilia-related compartment. Analysis from zebrafish supports the role of WDR31 in regulating the cilia morphology. The CRISPR/Cas9 knock-in (p.Arg261del) C. elegans model of the patient variant (p.Arg268*) reproduced several cilia-related defects observed in wdr-31 null mutants. Mechanistic analysis from C. elegans revealed that WDR-31 functions redundantly with ELDM-1 (ELMOD protein) and RPI-2 (RP2) to regulate the IFT trafficking through controlling the cilia entry of the BBSome. This work revealed WDR31 as a new ciliopathy protein that regulates IFT and BBSome trafficking.

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Section: Functional Redundancy Between Wdr-31 Elmd-1 and Rpi-2mentioning

confidence: 81%

WDR31 is a novel ciliopathy protein displaying functional redundancy with GTPase-activating proteins ELMOD and RP2 in recruiting BBSome to cilium

Cevik

AlAbdi

Peng

et al. 2021

Preprint

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“…The copyright holder for this preprint this version posted June 11, 2021. ; https://doi.org/10.1101/2021.06.10.445528 doi: bioRxiv preprint Furthermore, the ciliary roles of these two GAP proteins might be independent of their GAP activities, and consistent with this idea, the recent study showed the ciliary roles of ELMOD2 are partially independent of its GAP activity (Turn et al, 2021). However, a variety of evidence suggests that WDR31 and ELMOD3 do not form a complex.…”

Section: Functional Redundancy Between Wdr-31 Elmd-1 and Rpi-2mentioning

confidence: 88%

Functional redundancy of WDR31 with GTPase-activating proteins ELMOD and RP2 in regulating IFT trains via BBSome

Cevik

AlAbdi

Peng

et al. 2021

Preprint

View full text Add to dashboard Cite

The term ciliopathy refers to a group of over 35 rare disorders characterized by defective cilia and many overlapping clinical features, such as hydrocephalus, cerebellar vermis hypoplasia, polydactyly, and retinopathy. Even though many genes have been implicated in ciliopathies, the genetic pathogenesis in certain cases remains still undisclosed. Here, we identified a homozygous truncating variant in WDR31 in a patient with a typical ciliopathy phenotype encompassing congenital hydrocephalus, polydactyly and renal agenesis. WDR31 is an evolutionarily conserved protein that localizes to the cilium and cilia-related compartment. Analysis from zebrafish supports the role of WDR31 in regulating the cilia morphology. The CRISPR/Cas9 knock-in (p.Arg261del) C. elegans model of the patient variant (p.Arg268*) reproduced several cilia-related defects observed in wdr-31 null mutants. Mechanistic analysis from C. elegans revealed that WDR-31 functions redundantly with ELDM-1 (ELMOD protein) and RPI-2 (RP2) to regulate the IFT trafficking through controlling the cilia entry of the BBSome. This work revealed WDR31 as a new ciliopathy protein that regulates IFT and BBSome trafficking.

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“…One is to interact with the centrosome and function in the control of ciliogenesis and control of the number and timing of cilia [113]. Another is the maintenance of retinal receptor cell.…”

Section: Rootlets-roles In Basal Body Positioningmentioning

confidence: 99%

Using Paramecium as a Model for Ciliopathies

Valentine

Houten

2021

Genes

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Paramecium has served as a model organism for the studies of many aspects of genetics and cell biology: non-Mendelian inheritance, genome duplication, genome rearrangements, and exocytosis, to name a few. However, the large number and patterning of cilia that cover its surface have inspired extraordinary ultrastructural work. Its swimming patterns inspired exquisite electrophysiological studies that led to a description of the bioelectric control of ciliary motion. A genetic dissection of swimming behavior moved the field toward the genes and gene products underlying ciliary function. With the advent of molecular technologies, it became clear that there was not only great conservation of ciliary structure but also of the genes coding for ciliary structure and function. It is this conservation and the legacy of past research that allow us to use Paramecium as a model for cilia and ciliary diseases called ciliopathies. However, there would be no compelling reason to study Paramecium as this model if there were no new insights into cilia and ciliopathies to be gained. In this review, we present studies that we believe will do this. For example, while the literature continues to state that immotile cilia are sensory and motile cilia are not, we will provide evidence that Paramecium cilia are clearly sensory. Other examples show that while a Paramecium protein is highly conserved it takes a different interacting partner or conducts a different ion than expected. Perhaps these exceptions will provoke new ideas about mammalian systems.

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Roles for ELMOD2 and Rootletin in ciliogenesis

Cited by 21 publications

References 138 publications

WDR31 is a novel ciliopathy protein displaying functional redundancy with GTPase-activating proteins ELMOD and RP2 in recruiting BBSome to cilium

WDR31 is a novel ciliopathy protein displaying functional redundancy with GTPase-activating proteins ELMOD and RP2 in recruiting BBSome to cilium

Functional redundancy of WDR31 with GTPase-activating proteins ELMOD and RP2 in regulating IFT trains via BBSome

Using Paramecium as a Model for Ciliopathies

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