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primary cilia brain

Daniela A Braun, Friedhelm Hildebrandt
Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited diseases that affect genes encoding proteins that localize to primary cilia or centrosomes. With few exceptions, ciliopathies are inherited in an autosomal recessive manner, and affected individuals manifest early during childhood or adolescence. NPHP-RC are genetically very heterogeneous, and, currently, mutations in more than 90 genes have been described as single-gene causes. The phenotypes of NPHP-RC are very diverse, and include cystic-fibrotic kidney disease, brain developmental defects, retinal degeneration, skeletal deformities, facial dimorphism, and, in some cases, laterality defects, and congenital heart disease...
October 28, 2016: Cold Spring Harbor Perspectives in Biology
Liyan Qiu, Robert P LeBel, Daniel R Storm, Xuanmao Chen
Cilia are rigid, centriole-derived, microtubule-based organelles present in a majority of vertebrate cells including neurons. They are considered the cellular "antennae" attuned for detecting a range of extracellular signals including photons, odorants, morphogens, hormones and mechanical forces. The ciliary microenvironment is distinct from most actin-based subcellular structures such as microvilli or synapses. In the nervous system, there is no evidence that neuronal cilia process any synaptic structure. Apparently, the structural features of neuronal cilia do not allow them to harbor any synaptic connections...
2016: International Journal of Physiology, Pathophysiology and Pharmacology
Sheena Sharma, Jennifer M Kalish, Ethan M Goldberg, Francis Jeshira Reynoso, Madhura Pradhan
Background. Oral-facial-digital syndrome type 1 (OFD1) is a rare condition with X-linked dominant inheritance caused by mutations in the Cxorf5 (OFD1) gene. This gene encodes the OFD1 protein located within centrosomes and basal bodies of primary cilia. Approximately 15-50% of patients with OFD1 progress to end-stage kidney disease following development of polycystic changes within the kidneys. This condition almost always causes intrauterine lethality in males. Description of Case Diagnosis and Treatment. A Caucasian male aged 9 years and 9 months presented with increased urinary frequency, increased thirst, and decreased appetite...
2016: Case Reports in Nephrology
David J Doobin, Shahrnaz Kemal, Tiago J Dantas, Richard B Vallee
Microcephaly is a cortical malformation disorder characterized by an abnormally small brain. Recent studies have revealed severe cases of microcephaly resulting from human mutations in the NDE1 gene, which is involved in the regulation of cytoplasmic dynein. Here using in utero electroporation of NDE1 short hairpin RNA (shRNA) in embryonic rat brains, we observe cell cycle arrest of proliferating neural progenitors at three distinct stages: during apical interkinetic nuclear migration, at the G2-to-M transition and in regulation of primary cilia at the G1-to-S transition...
2016: Nature Communications
Sarah M Guadiana, Alexander K Parker, Gileno F Filho, Ashton Sequeira, Susan Semple-Rowland, Gerry Shaw, Ronald J Mandel, Thomas C Foster, Ashok Kumar, Matthew R Sarkisian
The primary cilia of forebrain neurons assemble around birth and become enriched with neuromodulatory receptors. Our understanding of the permanence of these structures and their associated signaling pathways in the aging brain is poor, but they are worthy of investigation because disruptions in neuronal cilia signaling have been implicated in changes in learning and memory, depression-like symptoms, and sleep anomalies. Here, we asked whether neurons in aged forebrain retain primary cilia and whether the staining characteristics of aged cilia for type 3 adenylyl cyclase (ACIII), somatostatin receptor 3 (SSTR3), and pericentrin resemble those of cilia in younger forebrain...
2016: Frontiers in Aging Neuroscience
Pablo Granados-Durán, María Dolores López-Ávalos, Timothy R Hughes, Krista Johnson, B Paul Morgan, Paul P Tamburini, Pedro Fernández-Llebrez, Jesús M Grondona
BACKGROUND: In the rat brain, a single intracerebroventricular injection of neuraminidase from Clostridium perfringens induces ependymal detachment and death. This injury occurs before the infiltration of inflammatory blood cells; some reports implicate the complement system as a cause of these injuries. Here, we set out to test the role of complement. METHODS: The assembly of the complement membrane attack complex on the ependymal epithelium of rats injected with neuraminidase was analyzed by immunohistochemistry...
2016: Journal of Neuroinflammation
Brunella Franco, Christel Thauvin-Robinet
Oral-facial-digital syndromes (OFDS) represent a heterogeneous group of rare developmental disorders affecting the mouth, the face and the digits. Additional signs may involve brain, kidneys and other organs thus better defining the different clinical subtypes. With the exception of OFD types I and VIII, which are X-linked, the majority of OFDS is transmitted as an autosomal recessive syndrome. A number of genes have already found to be mutated in OFDS and most of the encoded proteins are predicted or proven to be involved in primary cilia/basal body function...
2016: Cilia
Li Li, Katie B Grausam, Jun Wang, Melody P Lun, Jasmin Ohli, Hart G W Lidov, Monica L Calicchio, Erliang Zeng, Jeffrey L Salisbury, Robert J Wechsler-Reya, Maria K Lehtinen, Ulrich Schüller, Haotian Zhao
Aberrant Notch signalling has been linked to many cancers including choroid plexus (CP) tumours, a group of rare and predominantly paediatric brain neoplasms. We developed animal models of CP tumours, by inducing sustained expression of Notch1, that recapitulate properties of human CP tumours with aberrant NOTCH signalling. Whole-transcriptome and functional analyses showed that tumour cell proliferation is associated with Sonic Hedgehog (Shh) in the tumour microenvironment. Unlike CP epithelial cells, which have multiple primary cilia, tumour cells possess a solitary primary cilium as a result of Notch-mediated suppression of multiciliate differentiation...
April 2016: Nature Cell Biology
Anna Grandone, Annalaura Torella, Claudia Santoro, Teresa Giugliano, Francesca Del Vecchio Blanco, Margherita Mutarelli, Mario Cirillo, Grazia Cirillo, Giulio Piluso, Carlo Capristo, Adalgisa Festa, Pierluigi Marzuillo, Emanuele Miraglia Del Giudice, Laura Perrone, Vincenzo Nigro
Primary autosomal recessive microcephaly (MCPH) is a developmental disorder characterized by prenatal onset of abnormal brain growth. MCPH occurs both alone and as part of a broad range of neurodevelopmental syndromes with or without cortical malformations and growth retardation. Here we report a consanguineous Moroccan family with two siblings affected by severe primary microcephaly, failure to thrive, congenital dermatitis and severe developmental delay. Brain MRI showed lissencephaly of frontal lobes and periventricular heterotopia of the grey matter...
March 4, 2016: Clinical Genetics
Katta Mohan Girisha, Anju Shukla, Daniel Trujillano, Gandham SriLakshmi Bhavani, Malavika Hebbar, Rajagopal Kadavigere, Arndt Rolfs
Intraflagellar transport (IFT) is vital for the functioning of primary cilia. Defects in several components of IFT complexes cause a spectrum of ciliopathies with variable involvement of skeleton, brain, eyes, ectoderm and kidneys. We examined a child from a consanguineous family who had short stature, narrow thorax, short hands and feet, post-axial polydactyly of hands, pigmentary retinopathy, small teeth and skeletal dysplasia. The clinical phenotype of the child shows significant overlap with cranioectodermal dysplasia type I (Sensenbrenner syndrome)...
February 16, 2016: Clinical Genetics
Tomoyuki Motoya, Noriko Ogawa, Tetsuya Nitta, Ashiq Mahmood Rafiq, Esrat Jahan, Motohide Furuya, Akihiro Matsumoto, Jun Udagawa, Hiroki Otani
Interkinetic nuclear migration (INM) is a phenomenon in which progenitor cell nuclei migrate along the apico-basal axis of the pseudostratified epithelium, which is characterized by the presence of apical primary cilia, in synchrony with the cell cycle in a manner of apical mitosis. INM is suggested to regulate not only stem/progenitor cell proliferation/differentiation but also organ size and shape. INM has been reported in epithelia of both ectoderm and endoderm origin. We examined whether INM exists in the mesoderm-derived ureteric epithelium...
May 2016: Congenital Anomalies
Takashi Nakakura, Takeshi Suzuki, Takahiro Nemoto, Hideyuki Tanaka, Anshin Asano-Hoshino, Kenjiro Arisawa, Yoshimi Nishijima, Yoshiko Kiuchi, Haruo Hagiwara
Cilia are microtubule-based hair-like organelles on basal bodies located beneath the cell membrane in various tissues of multicellular animals, and are usually classified into motile cilia and primary cilia. Microtubules are assembled from the heterodimers of α- and β-tubulin. The lysine residue at position 40 (K40) of α-tubulin is an important site for acetylation, and this site is acetylated in the cilium. α-Tubulin N-acetyltransferase 1 (ATAT1) is an acetyltransferase specific to the K40 residue of α-tubulin; however, its intracellular distribution in mammalian tissues remains unclear...
September 2016: Medical Molecular Morphology
Carmen Cifuentes-Diaz, Stefano Marullo, Stéphane Doly
Prenylated Rab acceptor family, member 2 (PRAF2) is a four transmembrane domain protein of 19 kDa that is highly expressed in particular areas of mammalian brains. PRAF2 is mostly found in the endoplasmic reticulum (ER) of neurons where it plays the role of gatekeeper for the GB1 subunit of the GABAB receptor, preventing its progression in the biosynthetic pathway in the absence of hetero-dimerization with the GB2 subunit. However, PRAF2 can interact with several receptors and immunofluorescence studies indicate that PRAF2 distribution is larger than the ER, suggesting additional biological functions...
December 8, 2015: Brain Structure & Function
Gang Yao, Chong Luo, Michael Harvey, Maoqing Wu, Taylor H Schreiber, Yanjun Du, Nuria Basora, Xuefeng Su, Diego Contreras, Jing Zhou
Epilepsy or seizure disorder is among the least understood chronic medical conditions affecting over 65 million people worldwide. Here, we show that disruption of the polycystic kidney disease 2-like 1 (Pkd2l1 or Pkdl), encoding polycystin-L (PCL), a non-selective cation channel, increases neuronal excitability and the susceptibility to pentylenetetrazol-induced seizure in mice. PCL interacts with β2-adrenergic receptor (β2AR) and co-localizes with β2AR on the primary cilia of neurons in the brain. Pkdl deficiency leads to the loss of β2AR on neuronal cilia, which is accompanied with a remarkable reduction in cAMP levels in the central nervous system (CNS)...
February 1, 2016: Human Molecular Genetics
Mary Gazea, Evangelia Tasouri, Marianna Tolve, Viktoria Bosch, Anna Kabanova, Christian Gojak, Bahtiyar Kurtulmus, Orna Novikov, Joachim Spatz, Gislene Pereira, Wolfgang Hübner, Claude Brodski, Kerry L Tucker, Sandra Blaess
Midbrain dopaminergic (mDA) neurons modulate various motor and cognitive functions, and their dysfunction or degeneration has been implicated in several psychiatric diseases. Both Sonic Hedgehog (Shh) and Wnt signaling pathways have been shown to be essential for normal development of mDA neurons. Primary cilia are critical for the development of a number of structures in the brain by serving as a hub for essential developmental signaling cascades, but their role in the generation of mDA neurons has not been examined...
January 1, 2016: Developmental Biology
Jill A Green, Cullen L Schmid, Elizabeth Bley, Paula C Monsma, Anthony Brown, Laura M Bohn, Kirk Mykytyn
Primary cilia are essential sensory and signaling organelles present on nearly every mammalian cell type. Defects in primary cilia underlie a class of human diseases collectively termed ciliopathies. Primary cilia are restricted subcellular compartments, and specialized mechanisms coordinate the localization of proteins to cilia. Moreover, trafficking of proteins into and out of cilia is required for proper ciliary function, and this process is disrupted in ciliopathies. The somatostatin receptor subtype 3 (Sstr3) is selectively targeted to primary cilia on neurons in the mammalian brain and is implicated in learning and memory...
January 1, 2016: Molecular and Cellular Biology
Sofie Symoens, Aileen M Barnes, Charlotte Gistelinck, Fransiska Malfait, Brecht Guillemyn, Wouter Steyaert, Delfien Syx, Sanne D'hondt, Martine Biervliet, Julie De Backer, Eckhard P Witten, Sergey Leikin, Elena Makareeva, Gabriele Gillessen-Kaesbach, Ann Huysseune, Kris Vleminckx, Andy Willaert, Anne De Paepe, Joan C Marini, Paul J Coucke
The evolutionarily conserved transmembrane anterior posterior transformation 1 protein, encoded by TAPT1, is involved in murine axial skeletal patterning, but its cellular function remains unknown. Our study demonstrates that TAPT1 mutations underlie a complex congenital syndrome, showing clinical overlap between lethal skeletal dysplasias and ciliopathies. This syndrome is characterized by fetal lethality, severe hypomineralization of the entire skeleton and intra-uterine fractures, and multiple congenital developmental anomalies affecting the brain, lungs, and kidneys...
October 1, 2015: American Journal of Human Genetics
Katsunori Fujii
The primary cilium is an immotile organelle protruding from the cell surface in almost all vertebrate cells. Many molecules inside the primary cilia coordinately play a pivotal role, so genetic defects of these components result in diverse congenital malformations of the brain, eye, liver, kidney, and skeleton. Hedgehog signaling is a highly conserved pathway regulating morphogenesis in early development and tumorigenesis postnatally. Recently, advanced molecular biology has revealed that components of hedgehog signaling such as PTCH1, SMO, and GLI specifically translocate within the primary cilium upon the ligand binding of the hedgehog protein, and transduce the biological growth signal from the cell surface to the nucleus...
July 2015: No to Hattatsu. Brain and Development
Samuel A Ramirez, Sridhar Raghavachari, Daniel J Lew
Dendritic spines are the postsynaptic terminals of most excitatory synapses in the mammalian brain. Learning and memory are associated with long-lasting structural remodeling of dendritic spines through an actin-mediated process regulated by the Rho-family GTPases RhoA, Rac, and Cdc42. These GTPases undergo sustained activation after synaptic stimulation, but whereas Rho activity can spread from the stimulated spine, Cdc42 activity remains localized to the stimulated spine. Because Cdc42 itself diffuses rapidly in and out of the spine, the basis for the retention of Cdc42 activity in the stimulated spine long after synaptic stimulation has ceased is unclear...
November 5, 2015: Molecular Biology of the Cell
Paulina Carmona-Mora, Jocelyn Widagdo, Florence Tomasetig, Cesar P Canales, Yeojoon Cha, Wei Lee, Abdullah Alshawaf, Mirella Dottori, Renee M Whan, Edna C Hardeman, Stephen J Palmer
GTF2IRD1 is one of the three members of the GTF2I gene family, clustered on chromosome 7 within a 1.8 Mb region that is prone to duplications and deletions in humans. Hemizygous deletions cause Williams-Beuren syndrome (WBS) and duplications cause WBS duplication syndrome. These copy number variations disturb a variety of developmental systems and neurological functions. Human mapping data and analyses of knockout mice show that GTF2IRD1 and GTF2I underpin the craniofacial abnormalities, mental retardation, visuospatial deficits and hypersociability of WBS...
October 2015: Human Genetics
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