bims-bicyki Biomed News
on Bicaudal-C1 and interactors in cystic kidney disease
Issue of 2022–09–04
ten papers selected by
Céline Gagnieux, École Polytechnique Fédérale de Lausanne
  1. Role of PKD2 in the endoplasmic reticulum calcium homeostasis.
  2. Rare presentation of autosomal dominant polycystic kidney disease in horseshoe kidney ultrasound evaluation: a case report.
  3. [Polycystic liver disease].
  4. External carotid artery pseudoaneurysm rupture in a patient with polycystic kidney disease: Case report and review of literature.
  5. Atypical small GTPase RABL3 interacts with RAB11 to regulate early ciliogenesis in human cells.
  6. A ciliary synapse for "short-circuit" neuromodulation.
  7. A serotonergic axon-cilium synapse drives nuclear signaling to alter chromatin accessibility.
  8. Identification of lysophosphatidic acid in serum as a factor that promotes epithelial apical junctional complex organization.
  9. Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure.
  10. Loss of ARL13 impedes BBSome-dependent cargo export from Chlamydomonas cilia.
  1. Front Physiol. 2022 ;13 962571
    Role of PKD2 in the endoplasmic reticulum calcium homeostasis.
    Xiong Liu, Jingfeng Tang, Xing-Zhen Chen.
      Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in the PKD1 or PKD2 gene which encodes membrane receptor PKD1 and cation channel PKD2, respectively. PKD2, also called transient receptor potential polycystin-2 (TRPP2), is a Ca2+-permeable channel located on the membrane of cell surface, primary cilia, and endoplasmic reticulum (ER). Ca2+ is closely associated with diverse cellular functions. While ER Ca2+ homeostasis depends on different Ca2+ receptors, channels and transporters, the role of PKD2 within the ER remains controversial. Whether and how PKD2-mediated ER Ca2+ leak relates to ADPKD pathogenesis is not well understood. Here, we reviewed current knowledge about the biophysical and physiological properties of PKD2 and how PKD2 contributes to ER Ca2+ homeostasis.
    Keywords:  ADPKD; ER Ca release channel; ER stress; PKD2 interacting partner; TRPP2 channel; autosomal dominant polycystic kidney disease
    DOI:  https://doi.org/10.3389/fphys.2022.962571
  2. Pan Afr Med J. 2022 ;42 116
    Rare presentation of autosomal dominant polycystic kidney disease in horseshoe kidney ultrasound evaluation: a case report.
    Vadlamudi Nagendra, Suresh Vasant Phatak, Rohan Kumar Singh, Shivesh Subodh Pandey, Rishabh Gupta.
      Horseshoe kidney is a renal fusion anomaly during embryogenesis and adult polycystic kidney disease is a hereditary disorder which is transmitted in autosomal dominant pattern. Polycystic and horseshoe kidney are two separate disease entities, only about 20 cases of polycystic kidney disease in horseshoe kidney disease have been described in the literature, with an incidence ranging from 1 in 134 000 to 1 in 8 000 000 live births. We are presenting ultrasound findings of a patient who was incidentally diagnosed with polycystic horseshoe kidney on routine screening.
    Keywords:  Polycystic kidney disease; case report; horseshoe kidney disease; polycystic liver disease; ultrasound
    DOI:  https://doi.org/10.11604/pamj.2022.42.116.31632
  3. Rev Med Suisse. 2022 Aug 31. 18(793): 1599-1605
    [Polycystic liver disease].
    Marie Ongaro, Francois-Nathan Bronstein, Nicolas Goossens, Laurent Spahr, Solange Bresson Hadni.
      Polycystic liver disease (PLD) includes three entities in adults : biliary hamartomas which develop as a result of ductal plate malformation, autosomal dominant polycystic liver disease (ADPLD) and autosomal dominant polycystic kidney disease (ADPKD) which occur in the setting of genetic disorders. Hamartomas are asymptomatic and benign. PLD are marked by a steady growth of cysts over time, clinically silent in the majority of cases. Symptomatic forms mainly affect women due to the influence of estrogens on the growth of cysts therefore estrogen treatments are contraindicated in this setting. Diagnosis is based on imaging. Complications are rare but must be identified early in order to offer appropriate care in an expert center.
    DOI:  https://doi.org/10.53738/REVMED.2022.18.793.1599
  4. Vascular. 2022 Sep 01. 17085381221124707
    External carotid artery pseudoaneurysm rupture in a patient with polycystic kidney disease: Case report and review of literature.
    Mohamed Nagi, Alexandre D'Audiffret, Daniel Katz.
       BACKGROUND: Vascular abnormalities, including dissections and aneurysms, can be found in patients with autosomal dominant kidney disease (ADPKD). While intracranial aneurysms have been reported in 10%-25% of ADPCKD, occurrences at other locations are exceedingly rare.
    METHOD: This is a first case report of a patient with ADPCKD who presented with a rupture of the left external carotid artery pseudoaneurysm.
    CONCLUSION: Rupture of a carotid artery aneurysm is rare with potentially high morbidity. An endovascular and surgical approach are effective strategies for successful management that depends on etiology, location, and surgeon experience.
    Keywords:  PKD1 or PKD2 polycystic kidney disease genes; autosomal dominant polycystic kidney disease; figure; transforming growth factor beta
    DOI:  https://doi.org/10.1177/17085381221124707
  5. J Cell Sci. 2022 Sep 02. pii: jcs.260021. [Epub ahead of print]
    Atypical small GTPase RABL3 interacts with RAB11 to regulate early ciliogenesis in human cells.
    Tetsuo Kobayashi, Tatsuya Ikeda, Reo Ota, Takafumi Yasukawa, Hiroshi Itoh.
      Primary cilia are near-ubiquitously assembled on cells in the human body and are broadly associated with genetic diseases and cancers. In the early stage of ciliogenesis, the ciliary vesicle (CV) is formed on the mother centriole, which nucleates the primary cilium. However, the regulatory mechanisms underlying CV formation have not yet been fully elucidated. Here, we found that the atypical small GTPase RAB-Like 3 (RABL3) is necessary to assemble primary cilia in human cells. RABL3 directly interacts with RAB11, which is involved in CV formation. RABL3 localizes around the centrosome during early ciliogenesis, reminiscent of RAB11 dynamics. Furthermore, RABL3 positively controls the CV formation like RAB11. These findings suggest that RABL3 plays an important role, in cooperation with RAB11, in CV formation during early ciliogenesis.
    Keywords:  Ciliary vesicle; Primary cilia; RAB11; RABL3
    DOI:  https://doi.org/10.1242/jcs.260021
  6. Cell. 2022 Sep 01. pii: S0092-8674(22)00993-X. [Epub ahead of print]185(18): 3284-3286
    A ciliary synapse for "short-circuit" neuromodulation.
    David J Simon, Joshua Levitz.
      Nearly all neurons contain a primary cilium, but little is known about how this compartment contributes to neuromodulatory signaling. In a new study, Sheu et al. use cutting-edge electron microscopy and fluorescence imaging techniques to reveal a new type of synapse that enables chemical transmission between serotonergic axons and the primary cilia of hippocampal neurons.
    DOI:  https://doi.org/10.1016/j.cell.2022.08.006
  7. Cell. 2022 Sep 01. pii: S0092-8674(22)00979-5. [Epub ahead of print]185(18): 3390-3407.e18
    A serotonergic axon-cilium synapse drives nuclear signaling to alter chromatin accessibility.
    Shu-Hsien Sheu, Srigokul Upadhyayula, Vincent Dupuy, Song Pang, Fei Deng, Jinxia Wan, Deepika Walpita, H Amalia Pasolli, Justin Houser, Silvia Sanchez-Martinez, Sebastian E Brauchi, Sambashiva Banala, Melanie Freeman, C Shan Xu, Tom Kirchhausen, Harald F Hess, Luke Lavis, Yulong Li, Séverine Chaumont-Dubel, David E Clapham.
      Chemical synapses between axons and dendrites mediate neuronal intercellular communication. Here, we describe a synapse between axons and primary cilia: the axo-ciliary synapse. Using enhanced focused ion beam-scanning electron microscopy on samples with optimally preserved ultrastructure, we discovered synapses between brainstem serotonergic axons and the primary cilia of hippocampal CA1 pyramidal neurons. Functionally, these cilia are enriched in a ciliary-restricted serotonin receptor, the 5-hydroxytryptamine receptor 6 (5-HTR6). Using a cilia-targeted serotonin sensor, we show that opto- and chemogenetic stimulation of serotonergic axons releases serotonin onto cilia. Ciliary 5-HTR6 stimulation activates a non-canonical Gαq/11-RhoA pathway, which modulates nuclear actin and increases histone acetylation and chromatin accessibility. Ablation of this pathway reduces chromatin accessibility in CA1 pyramidal neurons. As a signaling apparatus with proximity to the nucleus, axo-ciliary synapses short circuit neurotransmission to alter the postsynaptic neuron's epigenetic state.
    Keywords:  FIB-SEM; GPCR signaling; chromatin accessibility; fluorescence lifetime imaging; histone modification; nuclear actin; primary cilia; pyramidal neurons; serotonin
    DOI:  https://doi.org/10.1016/j.cell.2022.07.026
  8. J Biol Chem. 2022 Aug 25. pii: S0021-9258(22)00869-9. [Epub ahead of print] 102426
    Identification of lysophosphatidic acid in serum as a factor that promotes epithelial apical junctional complex organization.
    Shotaro Sakakibara, Ayuko Sakane, Takuya Sasaki, Masakazu Shinohara, Tomohiko Maruo, Muneaki Miyata, Kiyohito Mizutani, Yoshimi Takai.
      The apical junctional complex (AJC) consists of adherens junctions (AJs) and tight junctions (TJ) and regulates epithelial integrity and remodeling. However, it is unclear how AJC organization is regulated based on environmental cues. We found here using cultured EpH4 mouse mammary epithelial cells that fetal bovine serum (FBS) in a culture medium showed an activity to promote AJC organization, and that FBS showed an activity to promote TJ formation even in the absence of AJ proteins, such as E-cadherin, αE-catenin, and afadin. Furthermore, we purified the individual factor responsible for effecting these functions from FBS and identified this molecule as lysophosphatidic acid (LPA). In validation experiments, purified LPA elicited the same activity as FBS. In addition, we found that the AJC organization-promoting activity of LPA was mediated through the LPA receptor 1/5 via diacylglycerol-novel protein kinase C and Rho-ROCK pathway activation in a mutually independent, but complementary, manner. We demonstrated that the Rho-ROCK pathway activation-mediated AJC organization was independent of myosin II-induced actomyosin contraction, although this signaling pathway was previously shown to induce myosin II activation. These findings are in contrast to the literature, as previous results suggested an AJC organization-disrupting activity of LPA. The present results indicate that LPA in serum has an AJC organization-promoting activity in a manner dependent on or independent of AJ proteins.
    Keywords:  LPA; adherens junctions; afadin; apical junctional complex; cadherin; catenin; tight junctions
    DOI:  https://doi.org/10.1016/j.jbc.2022.102426
  9. Am J Respir Cell Mol Biol. 2022 Sep;67(3): 409-413
    Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure.
    Luisa Biebach, Sandra Cindrić, Julia Koenig, Isabella Aprea, Gerard W Dougherty, Johanna Raidt, Diana Bracht, Renate Ruppel, Jens Schreiber, Rim Hjeij, Heike Olbrich, Heymut Omran.
      
    DOI:  https://doi.org/10.1165/rcmb.2022-0032LE
  10. J Cell Biol. 2022 Oct 03. pii: e202201050. [Epub ahead of print]221(10):
    Loss of ARL13 impedes BBSome-dependent cargo export from Chlamydomonas cilia.
    Jin Dai, Gui Zhang, Rama A Alkhofash, Betlehem Mekonnen, Sahana Saravanan, Bin Xue, Zhen-Chuan Fan, Ewelina Betleja, Douglas G Cole, Peiwei Liu, Karl Lechtreck.
      The GTPase Arl13b participates in ciliary protein transport, but its contribution to intraflagellar transport (IFT), the main motor-based protein shuttle of cilia, remains largely unknown. Chlamydomonas arl13 mutant cilia were characterized by both abnormal reduction and accumulation of select membrane-associated proteins. With respect to the latter, a similar set of proteins including phospholipase D (PLD) also accumulated in BBSome-deficient cilia. IFT and BBSome traffic were apparently normal in arl13. However, transport of PLD, which in control cells moves by BBSome-dependent IFT, was impaired in arl13, causing PLD to accumulate in cilia. ARL13 only rarely and transiently traveled by IFT, indicating that it is not a co-migrating adapter securing PLD to IFT trains. In conclusion, the loss of Chlamydomonas ARL13 impedes BBSome-dependent protein transport, resulting in overlapping biochemical defects in arl13 and bbs mutant cilia.
    DOI:  https://doi.org/10.1083/jcb.202201050
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