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https://www.readbyqxmd.com/read/28505061/novel-ofd1-frameshift-mutation-in-a-chinese-boy-with-joubert-syndrome-a-case-report-and-literature-review
#1
Kaihui Zhang, Chen Meng, Jing Ma, Min Gao, Yuqiang Lv, Yi Liu, Zhongtao Gai
Joubert syndrome (JBTS) is a clinically and genetically heterogeneous group of ciliopathy with a key diagnostic feature of 'molar tooth sign' in brain MRI. So far, over 20 causative genes have been identified, but only one gene (OFD1) results in X-linked Joubert syndrome 10 (JBTS10). Six mutations in the OFD1 gene have been found to cause JBTS10. In this study, we identified a novel OFD1 mutation of c.2843_2844 delAA (p.Lys948ArgfsX) in a 3-month-old boy with a 'molar tooth sign' and clinical features of JBTS using targeted exome next-generation sequencing...
May 12, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28504201/cilia-the-sensory-antennae-in-the-eye
#2
REVIEW
Helen May-Simera, Kerstin Nagel-Wolfrum, Uwe Wolfrum
Cilia are hair-like projections found on almost all cells in the human body. Originally believed to function merely in motility, the function of solitary non-motile (primary) cilia was long overlooked. Recent research has demonstrated that primary cilia function as signalling hubs that sense environmental cues and are pivotal for organ development and function, tissue hoemoestasis, and maintenance of human health. Cilia share a common anatomy and their diverse functional features are achieved by evolutionarily conserved functional modules, organized into sub-compartments...
May 11, 2017: Progress in Retinal and Eye Research
https://www.readbyqxmd.com/read/28502102/functional-analysis-by-minigene-assay-of-putative-splicing-variants-found-in-bardet-biedl-syndrome-patients
#3
María Álvarez-Satta, Sheila Castro-Sánchez, Guillermo Pousada, Diana Valverde
Bardet-Biedl syndrome (BBS) and Alström syndrome (ALMS) are rare diseases belonging to the group of ciliopathies. Although mutational screening studies of BBS/ALMS cohorts have been extensively reported, little is known about the functional effect of those changes. Thus, splicing variants are estimated to represent 15% of disease-causing mutations, and there is growing evidence that many exonic changes are really splicing variants misclassified. In this study, we aimed to analyse for the first time several variants in BBS2, ARL6/BBS3, BBS4 and ALMS1 genes predicted to produce aberrant splicing by minigene assay...
May 13, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28497568/neuropsychological-phenotypes-of-76-individuals-with-joubert-syndrome-evaluated-at-a-single-center
#4
Angela C Summers, Joseph Snow, Edythe Wiggs, Alexander G Liu, Camilo Toro, Andrea Poretti, Wadih M Zein, Brian P Brooks, Melissa A Parisi, Sara Inati, Dan Doherty, Meghana Vemulapalli, Jim C Mullikin, Thierry Vilboux, William A Gahl, Meral Gunay-Aygun
Joubert syndrome (JS) is a genetically heterogeneous ciliopathy characterized by hypo-dysplasia of the cerebellar vermis, a distinct hindbrain/midbrain malformation (molar tooth sign), and intellectual disability. We evaluated the neuropsychological profiles of 76 participants with JS in the context of molecular genetics and clinical covariates. Evaluations included neuropsychological testing, structured parental interviews, DNA sequencing, brain magnetic resonance imaging (MRI), electroencephalography (EEG), ophthalmologic examination, and assessment for renal and hepatic disease...
May 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28493804/hereditary-renal-cystic-disorders-imaging-of-the-kidneys-and-beyond
#5
Jonathan R Dillman, Andrew T Trout, Ethan A Smith, Alexander J Towbin
The purpose of this article is to review the hereditary renal cystic diseases that can manifest in children and adults, with specific attention to pathogenesis and imaging features. Various common and uncommon hereditary renal cystic diseases are reviewed in terms of their underlying etiology, including the involved genetic mutations and the affected proteins and cellular structures. Focus is placed on the morphologic findings in each condition and the features that distinguish one disorder from another. The two most common categories of hereditary renal cystic disease are (a) the ciliopathic disorders, which are related to mutations affecting the primary cilia (called "ciliopathies"), and (b) the phakomatoses...
May 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28487361/biochemical-characterization-of-purified-mammalian-arl13b-indicate-that-it-is-an-atypical-gtpase-and-arl3-guanine-nucleotide-exchange-factor-gef
#6
Anna A Ivanova, Tamara Caspary, Nicholas T Seyfried, Duc M Duong, Andrew B West, Zhiyong Liu, Richard A Kahn
Primary cilia play central roles in signaling during metazoan development. Several key regulators of ciliogenesis and ciliary signaling are mutated in humans, resulting in a number of ciliopathies, including Joubert Syndrome (JS). ARL13B is a ciliary GTPase with at least three missense mutations identified in JS patients. ARL13B is a member of the ARF family of regulatory GTPases, but is atypical in having a non-homologous, C-terminal domain of ~20 kDa and at least one key residue difference in the consensus GTP binding motifs...
May 9, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28486600/sclt1-deficiency-causes-cystic-kidney-by-activating-erk-and-stat3-signaling
#7
Jianshuang Li, Di Lu, Huadie Liu, Bart O Williams, Paul A Overbeek, Brendan Lee, Ling Zheng, Tao Yang
Ciliopathies form a group of inherited disorders sharing several clinical manifestations due to abnormal cilia formation or function, and few treatments have been successful against these disorders. Here, we report a mouse model with mutated Sclt1 gene, which encodes a centriole distal appendage protein important for ciliogenesis. SCLT1 mutations were associated with the oral-facial-digital syndrome (OFD), an autosomal recessive ciliopathy. The Sclt1-/- mice exhibit typical ciliopathy phenotypes, including cystic kidney, cleft palate, and polydactyly...
May 9, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28483842/molecular-interactions-between-tubulin-tails-and-glutamylases-reveal-determinants-of-glutamylation-patterns
#8
Kathiresan Natarajan, Sudarshan Gadadhar, Judith Souphron, Maria M Magiera, Carsten Janke
Posttranslational modifications of tubulin currently emerge as key regulators of microtubule functions. Polyglutamylation generates a variety of modification patterns that are essential for controlling microtubule functions in different cell types and organelles, and deregulation of these patterns has been linked to ciliopathies, cancer and neurodegeneration. How the different glutamylating enzymes determine precise modification patterns has so far remained elusive. Using computational modelling, molecular dynamics simulations and mutational analyses we now show how the carboxy-terminal tails of tubulin bind into the active sites of glutamylases...
May 8, 2017: EMBO Reports
https://www.readbyqxmd.com/read/28479320/dynein-driven-retrograde-intraflagellar-transport-is-triphasic-in-c-%C3%A2-elegans-sensory-cilia
#9
Peishan Yi, Wen-Jun Li, Meng-Qiu Dong, Guangshuo Ou
Cytoplasmic dynein-2 powers retrograde intraflagellar transport that is essential for cilium formation and maintenance. Inactivation of dynein-2 by mutations in DYNC2H1 causes skeletal dysplasias, and it remains unclear how the dynein-2 heavy chain moves in cilia. Here, using the genome-editing technique to produce fluorescent dynein-2 heavy chain in Caenorhabditis elegans, we show by high-resolution live microscopy that dynein-2 moves in a surprising way along distinct ciliary domains. Dynein-2 shows triphasic movement in the retrograde direction: dynein-2 accelerates in the ciliary distal region and then moves at maximum velocity and finally decelerates adjacent to the base, which may represent a physical obstacle due to transition zone barriers...
April 27, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28475963/variable-expressivity-of-tctex1d2-mutations-and-a-possible-pathogenic-link-of-molar-incisor-malformation-to-ciliary-dysfunction
#10
Johannes Zschocke, Anna Schossig, Dieter D Bosshardt, Daniela Karall, Rudolf Glueckert, Ines Kapferer-Seebacher
OBJECTIVE: Clarification of the molecular basis of a ciliopathy associated with molar-incisor malformation in a consanguineous Turkish family. DESIGN: Full dental and clinical examinations, histologic analysis, comprehensive genetic analyses including exome sequencing, ciliary function tests and transmission electron microscopy of ciliary biopsies in the surviving patient. RESULTS: Two siblings had situs inversus and complex heart defects suggestive of ciliary dysfunction...
April 20, 2017: Archives of Oral Biology
https://www.readbyqxmd.com/read/28468945/primary-cilia-control-the-maturation-of-tubular-lumen-in-renal-collecting-duct-epithelium
#11
Thomas Ernandez, Olga Komarynets, Alexandra Chassot, Soushma Sougoumarin, Priscilla Soulie, Yubao Wang, Roberto Montesano, Eric Feraille
The key role of the primary cilium in developmental processes is illustrated by ciliopathies resulting from genetic defects of its components. Ciliopathies include a large variety of dysmorphic syndromes that share in common the presence of multiple kidney cysts. These observations suggest that primary cilia may control morphogenetic processes in the developing kidney. In this study, we assessed the role of primary cilium in branching tubulogenesis and/or lumen development using kidney collecting duct-derived mCCDN21 cells that display spontaneous tubulogenic properties when grown in collagen/matrigel matrix...
May 3, 2017: American Journal of Physiology. Cell Physiology
https://www.readbyqxmd.com/read/28460059/insights-into-ciliary-genes-and-evolution-from-multi-level-phylogenetic-profiling
#12
Yannis Nevers, Megana K Prasad, Laetitia Poidevin, Kirsley Chennen, Alexis Allot, Arnaud Kress, Raymond Ripp, Julie D Thompson, Hélène Dollfus, Olivier Poch, Odile Lecompte
Cilia (flagella) are important eukaryotic organelles, present in the Last Eukaryotic Common Ancestor, and are involved in cell motility and integration of extracellular signals. Ciliary dysfunction causes a class of genetic diseases, known as ciliopathies, however current knowledge of the underlying mechanisms is still limited and a better characterization of genes is needed. As cilia have been lost independently several times during evolution and they are subject to important functional variation between species, ciliary genes can be investigated through comparative genomics...
April 28, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/28460050/ift81-as-a-candidate-gene-for-nonsyndromic-retinal-degeneration
#13
Rachayata Dharmat, Wei Liu, Zhongqi Ge, Zixi Sun, Lizhu Yang, Yumei Li, Keqing Wang, Kandace Thomas, Ruifang Sui, Rui Chen
Purpose: IFT81, a core component of the IFT-B complex, involved in the bidirectional transport of ciliary proteins, has been recently implicated in syndromic ciliopathies. However, none of the IFT-B core complex proteins have been associated with nonsyndromic retinal dystrophies. Given the importance of ciliary transport in photoreceptor function and structural maintenance, we sought to investigate the impact of IFT (intraflagellar transport) mutations in nonsyndromic retinopathies. Methods: Whole exome sequencing was performed on 50 cone-rod dystrophy (CRD) patients that were previously screened for mutations in known retinal disease genes...
May 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28453661/photoreceptor-outer-segment-as-a-sink-for-membrane-proteins-hypothesis-and-implications-in-retinal-ciliopathies
#14
Seongjin Seo, Poppy Datta
The photoreceptor outer segment (OS) is a unique modification of the primary cilium, specialized for light perception. Being homologous organelles, the primary cilium and the OS share common building blocks and molecular machinery to construct and maintain them. The OS, however, has several unique structural features that are not seen in primary cilia. Although these unique features of the OS have been well documented, their implications in protein localization have been under-appreciated. In this review, we compare the structural properties of the primary cilium and the OS, and propose a hypothesis that the OS can act as a sink for membrane proteins...
April 26, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28444310/arl3-and-rp2-regulate-the-trafficking-of-ciliary-tip-kinesins
#15
Nele Schwarz, Amelia Lane, Katarina Jovanovich, David A Parfitt, Monica Aguila, Clare L Thompson, Lyndon da Cruz, Peter J Coffey, J Paul Chapple, Alison J Hardcastle, Michael E Cheetham
Ciliary trafficking defects are the underlying cause of many ciliopathies, including Retinitis Pigmentosa (RP). Anterograde intraflagellar transport (IFT) is mediated by kinesin motor proteins; however, the function of the homodimeric Kif17 motor in cilia is poorly understood, whereas Kif7 is known to play an important role in stabilising cilia tips. Here we identified the ciliary tip kinesins Kif7 and Kif17 as novel interaction partners of the small GTPase Arl3 and its regulatory GTPase activating protein (GAP) Retinitis Pigmentosa 2 (RP2)...
April 21, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28442542/missense-mutations-in-the-wd40-domain-of-ahi1-cause-non-syndromic-retinitis-pigmentosa
#16
Thanh-Minh T Nguyen, Sarah Hull, Ronald Roepman, L Ingeborgh van den Born, Machteld M Oud, Erik de Vrieze, Lisette Hetterschijt, Stef J F Letteboer, Sylvia E C van Beersum, Ellen A Blokland, Helger G Yntema, Frans P M Cremers, Paul A van der Zwaag, Gavin Arno, Erwin van Wijk, Andrew R Webster, Lonneke Haer-Wigman
BACKGROUND: Recent findings suggesting that Abelson helper integration site 1 (AHI1) is involved in non-syndromic retinal disease have been debated, as the functional significance of identified missense variants was uncertain. We assessed whether AHI1 variants cause non-syndromic retinitis pigmentosa (RP). METHODS: Exome sequencing was performed in three probands with RP. The effects of the identified missense variants in AHI1 were predicted by three-dimensional structure homology modelling...
April 25, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28432921/gates-for-soluble-and-membrane-proteins-and-two-trafficking-systems-ift-and-lift-establish-a-dynamic-ciliary-signaling-compartment
#17
REVIEW
Victor L Jensen, Michel R Leroux
Primary cilia are microtubule-based organelles found on most mammalian cell surfaces. They possess a soluble matrix and membrane contiguous with the cell body cytosol and plasma membrane, and yet, have distinct compositions that can be modulated to enable dynamic signal transduction. Here, we discuss how specialized ciliary compartments are established using a coordinated network of gating, trafficking and targeting activities. Cilium homeostasis is maintained by a size-selective molecular mesh that limits soluble protein entry, and by a membrane diffusion barrier localized at the transition zone...
April 19, 2017: Current Opinion in Cell Biology
https://www.readbyqxmd.com/read/28428954/uncovering-the-roles-of-septins-in-cilia
#18
REVIEW
Oliva Palander, Maha El-Zeiry, William S Trimble
Septins are a family of GTP-binding proteins that associate with cellular membranes and the cytoskeleton. Their ability to polymerize into filamentous structures permits them to serve as diffusion barriers for membrane proteins and as multi-molecular scaffolds that recruit components of signaling pathways. At the cellular level, septins contribute to the regulation of numerous processes, including cytokinesis, cell polarity, cell migration, and many others. In this review, we discuss emerging evidence for roles of mammalian septins in the biogenesis and function of flagella and cilia, and how this may impact human diseases such as ciliopathies...
2017: Frontiers in Cell and Developmental Biology
https://www.readbyqxmd.com/read/28421705/cover-image-volume-173a-number-5-may-2017
#19
Toshiki Takenouchi, Tomu Kuchikata, Hiroshi Yoshihashi, Mineko Fujiwara, Tomoko Uehara, Sahoko Miyama, Shiro Yamada, Kenjiro Kosaki
The cover image, by Toshiki Takenouchi et al., is based on the Clinical Report Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype, DOI: 10.1002/ajmg.a.38167.
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28410875/particle-sorting-by-paramecium-cilia-arrays
#20
Richard Mayne, James G H Whiting, Gabrielle Wheway, Chris Melhuish, Andrew Adamatzky
Motile cilia are cell-surface organelles whose purposes, in ciliated protists and certain ciliated metazoan epithelia, include generating fluid flow, sensing and substance uptake. Certain properties of cilia arrays, such as beating synchronisation and manipulation of external proximate particulate matter, are considered emergent, but remain incompletely characterised despite these phenomena having being the subject of extensive modelling. This study constitutes a laboratory experimental characterisation of one of the emergent properties of motile cilia: manipulation of adjacent particulates...
April 12, 2017: Bio Systems
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