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https://www.readbyqxmd.com/read/29689227/how-the-ciliary-membrane-is-organized-inside-out-to-communicate-outside-in
#1
REVIEW
Galo Garcia, David R Raleigh, Jeremy F Reiter
Cilia, organelles that move to execute functions like fertilization and signal to execute functions like photoreception and embryonic patterning, are composed of a core of nine-fold doublet microtubules overlain by a membrane. Distinct types of cilia display distinct membrane morphologies, ranging from simple domed cylinders to the highly ornate invaginations and membrane disks of photoreceptor outer segments. Critical for the ability of cilia to signal, both the protein and the lipid compositions of ciliary membranes are different from those of other cellular membranes...
April 23, 2018: Current Biology: CB
https://www.readbyqxmd.com/read/29674126/bbs9-gene-in-nonsyndromic-craniosynostosis-role-of-the-primary-cilium-in-the-aberrant-ossification-of-the-suture-osteogenic-niche
#2
Marta Barba, Lorena Di Pietro, Luca Massimi, Maria Concetta Geloso, Paolo Frassanito, Massimo Caldarelli, Fabrizio Michetti, Stefano Della Longa, Paul A Romitti, Concezio Di Rocco, Alessandro Arcovito, Ornella Parolini, Gianpiero Tamburrini, Camilla Bernardini, Simeon Antonov Boyadjiev, Wanda Lattanzi
Nonsyndromic craniosynostosis (NCS) is the premature ossification of skull sutures, without associated clinical features. Mutations in several genes account for a small number of NCS patients; thus, the molecular etiopathogenesis of NCS remains largely unclear. Our study aimed at characterizing the molecular signaling implicated in the aberrant ossification of sutures in NCS patients. Comparative gene expression profiling of NCS patient sutures identified a fused suture-specific signature, including 17 genes involved in primary cilium signaling and assembly...
April 16, 2018: Bone
https://www.readbyqxmd.com/read/29653013/-progress-of-research-on-bardet-biedl-syndrome
#3
Peng Zeng, Tao Shen
Bardet-Biedl syndrome (BBS) is a rare genetic disease caused by ciliary structure abnormality or dysfunction. To date, more than 21 BBS genes (BBS1 - 21) have been reported to independently cause the disorder. Although the cellular functions of BBS proteins are not yet fully understood, model organisms have revealed that such proteins are involved in ciliary functions and intracellular transport. Among the 21 BBS genes, BBS7 is unique in that its product is a subunit of the BBSome and can directly interact with the BBS chaperonin complex...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29590217/bbs1-is-involved-in-retrograde-trafficking-of-ciliary-gpcrs-in-the-context-of-the-bbsome-complex
#4
Shohei Nozaki, Yohei Katoh, Takuya Kobayashi, Kazuhisa Nakayama
Protein trafficking within cilia is mediated by the intraflagellar transport (IFT) machinery composed of large protein complexes. The BBSome consists of eight BBS proteins encoded by causative genes of Bardet-Biedl syndrome (BBS), and has been implicated in the trafficking of ciliary membrane proteins, including G protein-coupled receptors (GPCRs), by connecting the IFT machinery to cargo GPCRs. Membrane recruitment of the BBSome to promote cargo trafficking has been proposed to be regulated by the Arf-like small GTPase ARL6/BBS3, through its interaction with the BBS1 subunit of the BBSome...
2018: PloS One
https://www.readbyqxmd.com/read/29579578/the-molecular-machines-that-traffic-signaling-receptors-into-and-out-of-cilia
#5
REVIEW
Maxence V Nachury
Cilia are surface-exposed organelles that dynamically concentrate signaling molecules to organize sensory, developmental and homeostatic pathways. Entry and exit of signaling receptors is germane to the processing of signals and the molecular machines for entry and exit have started to emerge. The IFT-A complex and its membrane recruitment factor Tulp3 complex promotes the entry of signaling receptors into cilia while the BBSome and its membrane recruitment factor Arl6GTP ferry activated signaling receptors out of cilia...
March 23, 2018: Current Opinion in Cell Biology
https://www.readbyqxmd.com/read/29483145/bbsome-trains-remove-activated-gpcrs-from-cilia-by-enabling-passage-through-the-transition-zone
#6
Fan Ye, Andrew R Nager, Maxence V Nachury
A diffusion barrier at the transition zone enables the compartmentalization of signaling molecules by cilia. The BBSome and the small guanosine triphosphatase Arl6, which triggers BBSome coat polymerization, are required for the exit of activated signaling receptors from cilia, but how diffusion barriers are crossed when membrane proteins exit cilia remains to be determined. In this study, we found that activation of the ciliary G protein-coupled receptors (GPCRs) Smoothened and SSTR3 drove the Arl6-dependent assembly of large, highly processive, and cargo-laden retrograde BBSome trains...
May 7, 2018: Journal of Cell Biology
https://www.readbyqxmd.com/read/29339469/the-bardet-biedl-syndrome-protein-complex-is-an-adapter-expanding-the-cargo-range-of-intraflagellar-transport-trains-for-ciliary-export
#7
Peiwei Liu, Karl F Lechtreck
Bardet-Biedl syndrome (BBS) is a ciliopathy resulting from defects in the BBSome, a conserved protein complex. BBSome mutations affect ciliary membrane composition, impairing cilia-based signaling. The mechanism by which the BBSome regulates ciliary membrane content remains unknown. Chlamydomonas bbs mutants lack phototaxis and accumulate phospholipase D (PLD) in the ciliary membrane. Single particle imaging revealed that PLD comigrates with BBS4 by intraflagellar transport (IFT) while IFT of PLD is abolished in bbs mutants...
January 30, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29168691/a-recombinant-bbsome-core-complex-and-how-it-interacts-with-ciliary-cargo
#8
Björn Udo Klink, Eldar Zent, Puneet Juneja, Anne Kuhlee, Stefan Raunser, Alfred Wittinghofer
Cilia are small, antenna-like structures on the surface of eukaryotic cells that harbor a unique set of sensory proteins, including GPCRs and other membrane proteins. The transport of these proteins involves the BBSome, an eight-membered protein complex that is recruited to ciliary membranes by the G-protein Arl6. BBSome malfunction leads to Bardet-Biedl syndrome, a ciliopathy with severe consequences. Short ciliary targeting sequences (CTS) have been identified that trigger the transport of ciliary proteins...
November 15, 2017: ELife
https://www.readbyqxmd.com/read/29126234/bardet-biedl-syndrome-8-bbs8-protein-is-crucial-for-the-development-of-outer-segments-in-photoreceptor-neurons
#9
Tanya L Dilan, Ratnesh K Singh, Thamaraiselvi Saravanan, Abigail Moye, Andrew F X Goldberg, Peter Stoilov, Visvanathan Ramamurthy
Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy characterized by developmental abnormalities and vision loss. To date, mutations in 21 genes have been linked to BBS. The products of eight of these BBS genes form a stable octameric complex termed the BBSome. Mutations in BBS8, a component of the BBSome, cause early vision loss, but the role of BBS8 in supporting vision is not known. To understand the mechanisms by which BBS8 supports rod and cone photoreceptor function, we generated animal models lacking BBS8...
January 15, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29049287/bbsome-function-is-required-for-both-the-morphogenesis-and-maintenance-of-the-photoreceptor-outer-segment
#10
Ying Hsu, Janelle E Garrison, Gunhee Kim, Addison R Schmitz, Charles C Searby, Qihong Zhang, Poppy Datta, Darryl Y Nishimura, Seongjin Seo, Val C Sheffield
Genetic mutations disrupting the structure and function of primary cilia cause various inherited retinal diseases in humans. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, pleiotropic ciliopathy characterized by retinal degeneration, obesity, postaxial polydactyly, intellectual disability, and genital and renal abnormalities. To gain insight into the mechanisms of retinal degeneration in BBS, we developed a congenital knockout mouse of Bbs8, as well as conditional mouse models in which function of the BBSome (a protein complex that mediates ciliary trafficking) can be temporally inactivated or restored...
October 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29039417/protein-interaction-perturbation-profiling-at-amino-acid-resolution
#11
Jonathan Woodsmith, Luise Apelt, Victoria Casado-Medrano, Ziya Özkan, Bernd Timmermann, Ulrich Stelzl
The identification of genomic variants in healthy and diseased individuals continues to rapidly outpace our ability to functionally annotate these variants. Techniques that both systematically assay the functional consequences of nucleotide-resolution variation and can scale to hundreds of genes are urgently required. We designed a sensitive yeast two-hybrid-based 'off switch' for positive selection of interaction-disruptive variants from complex genetic libraries. Combined with massively parallel programmed mutagenesis and a sequencing readout, this method enables systematic profiling of protein-interaction determinants at amino-acid resolution...
December 2017: Nature Methods
https://www.readbyqxmd.com/read/28838966/-chlamydomonas-ift25-is-dispensable-for-flagellar-assembly-but-required-to-export-the-bbsome-from-flagella
#12
Bin Dong, Song Wu, Jing Wang, Yan-Xia Liu, Zhao Peng, De-Mei Meng, Kaiyao Huang, Mingfu Wu, Zhen-Chuan Fan
Intraflagellar transport (IFT) particles are composed of polyprotein complexes IFT-A and IFT-B as well as cargo adaptors such as the BBSome. Two IFT-B subunits, IFT25 and IFT27 were found to form a heterodimer, which is essential in exporting the BBSome out of the cilium but not involved in flagellar assembly and cytokinesis in vertebrates. Controversial results were, however, recorded to show that defects in IFT, flagellar assembly and even cytokinesis were caused by IFT27 knockdown in Chlamydomonas reinhardtii Using C...
November 15, 2017: Biology Open
https://www.readbyqxmd.com/read/28291807/the-meckel-syndrome-associated-protein-mks1-functionally-interacts-with-components-of-the-bbsome-and-ift-complexes-to-mediate-ciliary-trafficking-and-hedgehog-signaling
#13
Sarah C Goetz, Fiona Bangs, Chloe L Barrington, Nicholas Katsanis, Kathryn V Anderson
The importance of primary cilia in human health is underscored by the link between ciliary dysfunction and a group of primarily recessive genetic disorders with overlapping clinical features, now known as ciliopathies. Many of the proteins encoded by ciliopathy-associated genes are components of a handful of multi-protein complexes important for the transport of cargo to the basal body and/or into the cilium. A key question is whether different complexes cooperate in cilia formation, and whether they participate in cilium assembly in conjunction with intraflagellar transport (IFT) proteins...
2017: PloS One
https://www.readbyqxmd.com/read/28237838/gene-therapeutic-reversal-of-peripheral-olfactory-impairment-in-bardet-biedl-syndrome
#14
Corey L Williams, Cedric R Uytingco, Warren W Green, Jeremy C McIntyre, Kirill Ukhanov, Arthur D Zimmerman, Dana T Shively, Lian Zhang, Darryl Y Nishimura, Val C Sheffield, Jeffrey R Martens
Olfactory dysfunction is a pervasive but underappreciated health concern that affects personal safety and quality of life. Patients with olfactory dysfunctions have limited therapeutic options, particularly those involving congenital diseases. Bardet-Biedl syndrome (BBS) is one such disorder, where olfactory loss and other symptoms manifest from defective cilium morphology and/or function in various cell types/tissues. Olfactory sensory neurons (OSNs) of BBS mutant mice lack the capacity to build/maintain cilia, rendering the cells incapable of odor detection...
April 5, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28235840/the-centriolar-satellite-protein-ccdc66-interacts-with-cep290-and-functions-in-cilium-formation-and-trafficking
#15
Deniz Conkar, Efraim Culfa, Ezgi Odabasi, Navin Rauniyar, John R Yates, Elif N Firat-Karalar
Centriolar satellites are membrane-less structures that localize and move around the centrosome and cilium complex in a microtubule-dependent manner. They play important roles in centrosome- and cilium-related processes, including protein trafficking to the centrosome and cilium complex, and ciliogenesis, and they are implicated in ciliopathies. Despite the important regulatory roles of centriolar satellites in the assembly and function of the centrosome and cilium complex, the molecular mechanisms of their functions remain poorly understood...
April 15, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28105929/a-compendium-of-human-genes-regulating-feeding-behavior-and-body-weight-its-functional-characterization-and-identification-of-gwas-genes-involved-in-brain-specific-ppi-network
#16
Elena V Ignatieva, Dmitry A Afonnikov, Olga V Saik, Evgeny I Rogaev, Nikolay A Kolchanov
BACKGROUND: Obesity is heritable. It predisposes to many diseases. The objectives of this study were to create a compendium of genes relevant to feeding behavior (FB) and/or body weight (BW) regulation; to construct and to analyze networks formed by associations between genes/proteins; and to identify the most significant genes, biological processes/pathways, and tissues/organs involved in BW regulation. RESULTS: The compendium of genes controlling FB or BW includes 578 human genes...
December 22, 2016: BMC Genetics
https://www.readbyqxmd.com/read/28017328/an-actin-network-dispatches-ciliary-gpcrs-into-extracellular-vesicles-to-modulate-signaling
#17
Andrew R Nager, Jaclyn S Goldstein, Vicente Herranz-Pérez, Didier Portran, Fan Ye, Jose Manuel Garcia-Verdugo, Maxence V Nachury
Signaling receptors dynamically exit cilia upon activation of signaling pathways such as Hedgehog. Here, we find that when activated G protein-coupled receptors (GPCRs) fail to undergo BBSome-mediated retrieval from cilia back into the cell, these GPCRs concentrate into membranous buds at the tips of cilia before release into extracellular vesicles named ectosomes. Unexpectedly, actin and the actin regulators drebrin and myosin 6 mediate ectosome release from the tip of cilia. Mirroring signal-dependent retrieval, signal-dependent ectocytosis is a selective and effective process that removes activated signaling molecules from cilia...
January 12, 2017: Cell
https://www.readbyqxmd.com/read/27979967/daz-interacting-protein-1-dzip1-phosphorylation-by-polo-like-kinase-1-plk1-regulates-the-centriolar-satellite-localization-of-the-bbsome-protein-during-the-cell-cycle
#18
Boyan Zhang, Gang Wang, Xiaowei Xu, Sisi Yang, Tenghan Zhuang, Guopeng Wang, He Ren, Steven Y Cheng, Qing Jiang, Chuanmao Zhang
The function of the primary cilia, which is assembled in most vertebrate cells, is achieved by transport in and out of kinds of signaling receptors. The BBSome protein complex could recognize and target membrane proteins to the cilia, but how the BBSome itself is transported into the cilia is poorly understood. Here we demonstrate that the centrosome protein Dzip1 mediates the assembly of the BBSome-Dzip1-PCM1 complex in the centriolar satellites (CS) at the G0 phase for ciliary translocation of the BBSome...
January 27, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27930654/whole-organism-developmental-expression-profiling-identifies-rab-28-as-a-novel-ciliary-gtpase-associated-with-the-bbsome-and-intraflagellar-transport
#19
Victor L Jensen, Stephen Carter, Anna A W M Sanders, Chunmei Li, Julie Kennedy, Tiffany A Timbers, Jerry Cai, Noemie Scheidel, Breandán N Kennedy, Ryan D Morin, Michel R Leroux, Oliver E Blacque
Primary cilia are specialised sensory and developmental signalling devices extending from the surface of most eukaryotic cells. Defects in these organelles cause inherited human disorders (ciliopathies) such as retinitis pigmentosa and Bardet-Biedl syndrome (BBS), frequently affecting many physiological and developmental processes across multiple organs. Cilium formation, maintenance and function depend on intracellular transport systems such as intraflagellar transport (IFT), which is driven by kinesin-2 and IFT-dynein motors and regulated by the Bardet-Biedl syndrome (BBS) cargo-adaptor protein complex, or BBSome...
December 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27519801/cilium-transition-zone-proteome-reveals-compartmentalization-and-differential-dynamics-of-ciliopathy-complexes
#20
Samuel Dean, Flavia Moreira-Leite, Vladimir Varga, Keith Gull
The transition zone (TZ) of eukaryotic cilia and flagella is a structural intermediate between the basal body and the axoneme that regulates ciliary traffic. Mutations in genes encoding TZ proteins (TZPs) cause human inherited diseases (ciliopathies). Here, we use the trypanosome to identify TZ components and localize them to TZ subdomains, showing that the Bardet-Biedl syndrome complex (BBSome) is more distal in the TZ than the Meckel syndrome (MKS) complex. Several of the TZPs identified here have human orthologs...
August 30, 2016: Proceedings of the National Academy of Sciences of the United States of America
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