Articles

Diagnosis and management of primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder with defective structure and/or function of motile cilia/flagella, causing chronic upper and lower respiratory tract infections, fertilit...

Authors: Claudius Werner, Jörg Große Onnebrink and Heymut Omran

Situs inversus and ciliary abnormalities: 20 years later, what is the connection?

Heterotaxy (also known as situs ambiguous) and situs inversus totalis describe disorders of laterality in which internal organs do not display their typical pattern of asymmetry. First described around 1600 by Gi...

Authors: Petra Pennekamp, Tabea Menchen, Bernd Dworniczak and Hiroshi Hamada

Remodeling Cildb, a popular database for cilia and links for ciliopathies

New generation technologies in cell and molecular biology generate large amountsof data hard to exploit for individual proteins. This is particularly true forciliary and centrosomal research. Cildb is a multi–...

Authors: Olivier Arnaiz, Jean Cohen, Anne-Marie Tassin and France Koll

Editorial

Authors: Lotte B Pedersen

Loss of primary cilia occurs early in breast cancer development

Primary cilia are microtubule-based organelles that protrude from the cell surface. Primary cilia play a critical role in development and disease through regulation of signaling pathways including the Hedgehog...

Authors: Ina Menzl, Lauren Lebeau, Ritu Pandey, Nadia B Hassounah, Frank W Li, Ray Nagle, Karen Weihs and Kimberly M McDermott

Identification of conserved, centrosome-targeting ASH domains in TRAPPII complex subunits and TRAPPC8

Assembly of primary cilia relies on vesicular trafficking towards the cilium base and intraflagellar transport (IFT) between the base and distal tip of the cilium. Recent studies have identified several key re...

Authors: Kenneth B Schou, Stine K Morthorst, Søren T Christensen and Lotte B Pedersen

Mitochondrial fusion protein MFN2 interacts with the mitostatin-related protein MNS1 required for mouse sperm flagellar structure and function

Cilia and the sperm flagellum share many structural properties. Meiosis-specific nuclear structural 1 (MNS1) is a recently characterized protein that is abundantly expressed in post-meiotic spermatids and is r...

Authors: Melissa L Vadnais, Angel M Lin and George L Gerton

Normal mammary development and function in mice with Ift88 deleted in MMTV- and K14-Cre expressing cells

Primary cilia (PC) are non-motile microtubule based organelles present on almost every cell type and are known to serve as critical organizing centers for several signaling pathways crucial to embryonic and po...

Authors: Elizabeth H Mitchell and Rosa Serra

Functional modelling of a novel mutation in BBS5

Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy disorder with 18 known causative genes (BBS1-18). The primary clinical features are renal abnormalities, rod-cone dystrophy, post-axial polydactyly...

Authors: Mohamed H Al-Hamed, Charles van Lennep, Ann Marie Hynes, Paul Chrystal, Lorraine Eley, Fatimah Al-Fadhly, Riham El Sayed, Roslyn J Simms, Brian Meyer and John A Sayer

Reduction of meckelin leads to general loss of cilia, ciliary microtubule misalignment and distorted cell surface organization

Meckelin (MKS3), a conserved protein linked to Meckel Syndrome, assists in themigration of centrioles to the cell surface for ciliogenesis. We explored foradditional functions of MKS3p using RNA interference (...

Authors: Tyler Picariello, Megan Smith Valentine, Junji Yano and Judith Van Houten

Acknowledgement of Cilia’s reviewers in 2013

We would like to thank the following experts for their assistance with the peer-review in 2013 for manuscripts submitted to Cilia. We greatly appreciate the voluntary contribution made to the journal by all our r...

Authors: Phil Beales and Peter K Jackson

Enhanced response to pulmonary Streptococcus pneumoniae infection is associated with primary ciliary dyskinesia in mice lacking Pcdp1 and Spef2

Lower airway abnormalities are common in patients with primary ciliary dyskinesia (PCD), a pediatric syndrome that results from structural or functional defects in motile cilia. Patients can suffer from recurr...

Authors: Casey W McKenzie, Joshua M Klonoski, Taylor Maier, Glenda Trujillo, Peter F Vitiello, Victor C Huber and Lance Lee

Interleukin-1β sequesters hypoxia inducible factor 2α to the primary cilium

The primary cilium coordinates signalling in development, health and disease. Previously we have shown that the cilium is essential for the anabolic response to loading and the inflammatory response to interle...

Authors: Angus KT Wann, Clare L Thompson, J Paul Chapple and Martin M Knight

Getting to the heart of intraflagellar transport using Trypanosoma and Chlamydomonas models: the strength is in their differences

Cilia and flagella perform diverse roles in motility and sensory perception, and defects in their construction or their function are responsible for human genetic diseases termed ciliopathies. Cilia and flagel...

Authors: Benjamin Morga and Philippe Bastin

Flagellar central pair assembly in Chlamydomonas reinhardtii

Most motile cilia and flagella have nine outer doublet and two central pair (CP) microtubules. Outer doublet microtubules are continuous with the triplet microtubules of the basal body, are templated by the ba...

Authors: Karl-Ferdinand Lechtreck, Travis J Gould and George B Witman

New mutations in flagellar motors identified by whole genome sequencing in Chlamydomonas

The building of a cilium or flagellum requires molecular motors and associated proteins that allow the relocation of proteins from the cell body to the distal end and the return of proteins to the cell body in...

Authors: Huawen Lin, Nicholas P Nauman, Alison J Albee, Silas Hsu and Susan K Dutcher

The Small GTPase Rsg1 is important for the cytoplasmic localization and axonemal dynamics of intraflagellar transport proteins

Cilia are small, microtubule-based protrusions important for development and homeostasis. We recently demonstrated that the planar cell polarity effector protein Fuz is a critical regulator of axonemal intrafl...

Authors: Eric R Brooks and John B Wallingford

Ciliogenesis and cerebrospinal fluid flow in the developing Xenopus brain are regulated by foxj1

Circulation of cerebrospinal fluid (CSF) through the ventricular system is driven by motile cilia on ependymal cells of the brain. Disturbed ciliary motility induces the formation of hydrocephalus, a pathologi...

Authors: Cathrin Hagenlocher, Peter Walentek, Christina Müller, Thomas Thumberger and Kerstin Feistel

Molecular connections between nuclear and ciliary import processes

As an organelle, the cilium contains a unique complement of protein and lipid. Recent work has begun to shed light on the mechanisms that regulate entry of ciliary proteins into the compartment. Here, we focus...

Authors: H Lynn Kee and Kristen J Verhey

Intraflagellar transport complex structure and cargo interactions

Intraflagellar transport (IFT) is required for the assembly and maintenance of cilia, as well as the proper function of ciliary motility and signaling. IFT is powered by molecular motors that move along the ax...

Authors: Sagar Bhogaraju, Benjamin D Engel and Esben Lorentzen

CP110 and its network of partners coordinately regulate cilia assembly

Cilia are hair-like protrusions found at the surface of most eukaryotic cells. They can be divided into two types, motile and non-motile. Motile cilia are found in a restricted number of cell types, are genera...

Authors: William Y Tsang and Brian D Dynlacht

An inducible CiliaGFP mouse model for in vivo visualization and analysis of cilia in live tissue

Cilia are found on nearly every cell type in the mammalian body, and have been historically classified as either motile or immotile. Motile cilia are important for fluid and cellular movement; however, the rol...

Authors: Amber K O’Connor, Erik B Malarkey, Nicolas F Berbari, Mandy J Croyle, Courtney J Haycraft, P Darwin Bell, Peter Hohenstein, Robert A Kesterson and Bradley K Yoder

The SYSCILIA gold standard (SCGSv1) of known ciliary components and its applications within a systems biology consortium

The multinational SYSCILIA consortium aims to gain a mechanistic understanding of the cilium. We utilize multiple parallel high-throughput (HTP) initiatives to develop predictive models of relationships betwee...

Authors: Teunis JP van Dam, Gabrielle Wheway, Gisela G Slaats, Martijn A Huynen and Rachel H Giles

Functional aspects of primary cilia in signaling, cell cycle and tumorigenesis

Dysfunctional cilia underlie a broad range of cellular and tissue phenotypes and can eventually result in the development of ciliopathies: pathologically diverse diseases that range from clinically mild to hig...

Authors: Sander G Basten and Rachel H Giles

Arl13b influences cilia length in the zebrafish Kupffer’s vesicle

Authors: P Pintado, D Barral and SS Lopes

The effect of ethanol and acetaldehyde on brain ependymal and respiratory ciliary beat frequency

Ethanol has been shown to stimulate the beat frequency of respiratory cilia at concentrations encountered during social drinking, while one of its metabolites, acetaldehyde, has been shown to cause a marked de...

Authors: Claire Mary Smith, Priya Radhakrishnan, Kulvinder Sikand and Chris O’Callaghan

Our thanks to Cilia’s reviewers

We would like to thank all our reviewers for their contribution to the success of Cilia. Their voluntary participation has led to the launch of a new journal consistently publishing high quality articles and an i...

Authors: Phil Beales and Peter K Jackson

Pancreatic cyst development: insights from von Hippel-Lindau disease

Pancreatic cysts are a heterogeneous group of lesions, which can be benign or malignant. Due to improved imaging techniques, physicians are more often confronted with pancreatic cysts. Little is known about th...

Authors: Sophie J van Asselt, Elisabeth GE de Vries, Hendrik M van Dullemen, Adrienne H Brouwers, Annemiek ME Walenkamp, Rachel H Giles and Thera P Links

Reduced cilia frequencies in human renal cell carcinomas versus neighboring parenchymal tissue

Cilia are essential organelles in multiple organ systems, including the kidney where they serve as important regulators of renal homeostasis. Renal nephron cilia emanate from the apical membrane of epithelia, ...

Authors: Sander G Basten, Sven Willekers, Joost SP Vermaat, Gisela GG Slaats, Emile E Voest, Paul J van Diest and Rachel H Giles

Cilia, tubby mice, and obesity

Primary cilia have been previously linked to the central regulation of satiety. Thetubby mouse is characterized by maturity-onset obesity and blindness. Arecent paper demonstrates molecular defects in trafficking...

Authors: Saikat Mukhopadhyay and Peter K Jackson

Multiple essential roles for primary cilia in heart development

The primary cilium is a microtubule-based, plasma membrane-ensheathed protrusion projecting from the basal bodies of almost all cell types in the mammalian body. In the past several years a plethora of papers ...

Authors: Marc August Willaredt, Karin Gorgas, Humphrey A R Gardner and Kerry L Tucker

Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins

Ciliopathies encompass a broad array of clinical findings associated with genetic defects in biogenesis and/or function of the primary cilium, a ubiquitous organelle involved in the transduction of diverse bio...

Authors: Rivka A Rachel, Tiansen Li and Anand Swaroop

Cellular modelling of Alström syndrome in human primary dermal fibroblasts and derived cells

Authors: RK Semple, J-H Chen, RB Paisey, TG Barrett and M Hales

Nephrocystins play a crucial role in renal epithelial morphogenesis via the regulation of Wnt/PCP components Dishevelled and Rho GTPases

Authors: S Saunier, HM Gaudé, R Montjean, F Silbermann, V Grampa, C Burcklé, E Montenont, M Delous, C Vesque, C Jeanpierre, C Antignac, F Terzi and S Schneider-Maunoury

CG31320 (Heatr2) - ciliopathy candidate gene, functional analysis in fly and mouse models

Authors: G Mali, P Mill, PI zur Lage, EA Hall, AP Jarman and IJ Jackson

Severe ciliopathy-related phenotypes in mice with dysregulation of tubulin polyglutamylation

Authors: K Ikegami, A Konno, S Hattori, C Matsuda and M Setou

Bardet-Biedl syndrome proteins control cilia length through regulation of actin polymerisation

Authors: V Hernandez, P Pravincumar, A Diaz-Font, H May-Simera, D Jenkins, M Knight and PL Beales

Increased insulin resistance compounded by reduced insulin sensitivity drives the "Fat Aussie" (Alms1foz/foz) model of Alström syndrome towards obesity and type 2 diabetes mellitus

Authors: D Girard and N Petrovsky

In vivo function of galectin-3 in motile cilia of airway epithelium

Authors: D Delacour, T Piolot, E Pichard, V Contremoulins, T Dang and F Poirier

Mechanical strain disrupts primary cilia structure and modulates hedgehog signalling in adult chondrocytes

Authors: CL Thompson, JP Chapple and MM Knight

Dissecting the sub-structure of the intraflagellar transport complex B

Authors: Y Texier, J van Reeuwijk, DA Mans, R Roepman, K Boldt and M Ueffing

High throughput high content reverse genetics visual screens of ciliogenesis and cilia maintenance

Authors: K Szymanska, G Wheway, S Natarajan, J Higgins, M Adams, DC Tomlinson and CA Johnson

Three dimensional ultrastructure of human respiratory cilia in health and disease

Authors: A Shoemark, T Burgoyne, M Dixon, P Luther and C Hogg

The X-linked Retinitis Pigmentosa protein RP2 facilitates traffic of cilia target proteins

Authors: N Schwarz, TV Novoselova, R Wait, AJ Hardcastle and ME Cheetham

The ciliary protein Meckelin/TMEM67 interacts with HDAC6: possible implications for primary cilia stability

Authors: R De Mori, B Illi, S Romani, S Valente, CA Johnson, A Mai and EM Valente

TbSAXO is a MAP6-related protein involved in motility of Trypanosoma brucei flagellum

Authors: M Bonhivers, D Dacheux, N Landrein, M Thonnus, G Gilbert, A Sahin, H Wodrich and DR Robinson

Direct binding of Magi2 to the USH1G protein SANS links the periciliary USH protein network to endocytosis

Authors: K Bauss, A Klinger, V Etz, T Maerker, E van Wijk, Rachel Roepman, H Kremer and U Wolfrum

SysWiz database and software tool providing an insight into mechanism of action of molecules associated with ciliopathies

Authors: G Apic

Identification and characterization of the vertebrate motile ciliome

Authors: S Roy, S Choksi, D Babu, X Yu, D Lau, HK Ho, KN Wong, P Panse, L Hao, S Vij and S Chen

Planar cell polarity, cilia, and human disease

Authors: JB Wallingford