BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36 contributes to intraflagellar transport turnaround involving ICK/CILK1

Satoda, Yuuki; Noguchi, Tatsuro; Fujii, Taiju; Taniguchi, Aoi; Katoh, Yohei; Nakayama, Kazuhisa

doi:10.1091/mbc.e22-03-0089

Cited by 11 publications

(6 citation statements)

References 93 publications

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“…mCherry-IFT52(WT) (Figure 5D), as described previously in control RPE1 cells (Nakamura et al, 2020;Noguchi et al, 2021;Satoda et al, 2022). By contrast, the level of EGFP-ICK at the tip was significantly reduced in IFT52-KO cells expressing mCherry-fused IFT52(Δ139-162) or IFT52(A199T) (Figure 5, E and F; also see Figure 5H).…”

Section: Anterograde Protein Trafficking Toward the Ciliary Tip Is Co...supporting

confidence: 82%

Molecular basis underlying the ciliary defects caused by IFT52 variations found in skeletal ciliopathies

Ishida

Tasaki

Katoh

et al. 2022

MBoC

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Section: Anterograde Protein Trafficking Toward the Ciliary Tip Is Co...supporting

confidence: 82%

Molecular basis underlying the ciliary defects caused by IFT52 variations found in skeletal ciliopathies

Ishida

Tasaki

Katoh

et al. 2022

MBoC

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“…Consistent with the fact that TBC1D32 is not associated with the intraflagellar transport module, we did not detect abnormal IFT88 distribution in TBC1D32 fibroblasts. Interestingly though, IFT88 pooling was reported in the fibroblasts of a TBC1D32 -associated OFD type IX patient ( 19 ) and in a TBC1D32 -knockout hTERT-RPE1 cell line ( 49 ). Furthermore, murine tbc1d32 –/– and zebrafish morphant models displayed curled axonemes enveloped by dilated ciliary membranes ( 10 ), in contrast with the elongated ciliary defect we report in the Xenopus -knockdown model and in TBC1D32 patient cells.…”

Section: Discussionmentioning

confidence: 99%

TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa

Bocquet,

Borday,

Erkilic

et al. 2023

JCI Insight

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Retinitis pigmentosa (RP) is the most common inherited retinal disease (IRD) and is characterized by photoreceptor degeneration and progressive vision loss. We report 4 patients presenting with RP from 3 unrelated families with variants in TBC1D32 , which to date has never been associated with an IRD. To validate TBC1D32 as a putative RP causative gene, we combined Xenopus in vivo approaches and human induced pluripotent stem cell–derived (iPSC-derived) retinal models. Our data showed that TBC1D32 was expressed during retinal development and that it played an important role in retinal pigment epithelium (RPE) differentiation. Furthermore, we identified a role for TBC1D32 in ciliogenesis of the RPE. We demonstrated elongated ciliary defects that resulted in disrupted apical tight junctions, loss of functionality (delayed retinoid cycling and altered secretion balance), and the onset of an epithelial-mesenchymal transition–like phenotype. Last, our results suggested photoreceptor differentiation defects, including connecting cilium anomalies, that resulted in impaired trafficking to the outer segment in cones and rods in TBC1D32 iPSC-derived retinal organoids. Overall, our data highlight a critical role for TBC1D32 in the retina and demonstrate that TBC1D32 mutations lead to RP. We thus identify TBC1D32 as an IRD-causative gene.

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“…FAM149B1 is expressed in most cell types of the human body, and it interacts with numerous other cellular proteins involved in transport of amino acids, protein folding, or methylation of RNA. A previous report implicated FAM149B1 in the trafficking of specific proteins during cilium assembly ( 56 ). This regulatory role in protein trafficking might also be relevant for the transport of factors needed for DMV formation.…”

Section: Discussionmentioning

confidence: 87%

Identification of host dependency factors involved in SARS-CoV-2 replication organelle formation through proteomics and ultrastructural analysis

Pahmeier,

Lavacca,

Goellner

et al. 2023

J Virol

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Positive-strand RNA viruses subvert the cellular endomembrane system for the generation of distinct compartments termed replication organelles (ROs) that harbor the site where viral RNAs are generated. In this study, we corroborate that the SARS-CoV-2 non-structural proteins 3 and 4 (nsp3 and nsp4) suffice to remodel the endoplasmic reticulum to form double-membrane vesicles similar to ROs observed in viral infection. Cellular membrane alterations induced by nsp3/4 expression were evaluated through electron tomography and confocal microscopy, and nsp3/4-associated host factors were identified using mass spectrometry. The role of these host factors in virus infection was determined using gene silencing, identifying several host proteins involved in the SARS-CoV-2 replication cycle. Combining the gene silencing approach with ultrastructural analysis of nsp3/4-expressing cells, we found that the host dependency factors FAM149B1, CCAR2, and ZC3HAV1 play a role in the formation of double-membrane vesicles in a replication-independent manner. IMPORTANCE Remodeling of the cellular endomembrane system by viruses allows for efficient and coordinated replication of the viral genome in distinct subcellular compartments termed replication organelles. As a critical step in the viral life cycle, replication organelle formation is an attractive target for therapeutic intervention, but factors central to this process are only partially understood. In this study, we corroborate that two viral proteins, nsp3 and nsp4, are the major drivers of membrane remodeling in SARS-CoV-2 infection. We further report a number of host cell factors interacting with these viral proteins and supporting the viral replication cycle, some of them by contributing to the formation of the SARS-CoV-2 replication organelle.

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BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36 contributes to intraflagellar transport turnaround involving ICK/CILK1

Cited by 11 publications

References 93 publications

Molecular basis underlying the ciliary defects caused by IFT52 variations found in skeletal ciliopathies

Molecular basis underlying the ciliary defects caused by IFT52 variations found in skeletal ciliopathies

TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa

Identification of host dependency factors involved in SARS-CoV-2 replication organelle formation through proteomics and ultrastructural analysis

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