Genomes and Genes
Gene Symbol: Tubg2
Description: tubulin, gamma 2
Alias: AI504772, Tubgl, tubulin gamma-2 chain, gamma-2-tubulin
- Connell M, Chen H, Jiang J, Kuan C, Fotovati A, Chu T, et al. HMMR acts in the PLK1-dependent spindle positioning pathway and supports neural development. elife. 2017;6: pubmed publisher..These data identify an essential role for HMMR in the PLK1-dependent regulatory pathway that orients progenitor cell division and supports neural development. ..
- Arbi M, Pefani D, Kyrousi C, Lalioti M, Kalogeropoulou A, Papanastasiou A, et al. GemC1 controls multiciliogenesis in the airway epithelium. EMBO Rep. 2016;17:400-13 pubmed publisher..GemC1-knockout mice are born with airway epithelia devoid of multiciliated cells. Our results identify GemC1 as an essential regulator of ciliogenesis in the airway epithelium and a candidate gene for mucociliary disorders. ..
- Ramsbottom S, Sharma V, Rhee H, Eley L, Phillips H, Rigby H, et al. Vangl2-regulated polarisation of second heart field-derived cells is required for outflow tract lengthening during cardiac development. PLoS Genet. 2014;10:e1004871 pubmed publisher..Thus, Vangl2-regulated polarisation and subsequent acquisition of an epithelial phenotype is essential to lengthen the tubular outflow vessel, a process that is essential for on-going cardiac morphogenesis. ..
- Stewart K, Gaitan Y, Shafer M, Aoudjit L, Hu D, Sharma R, et al. A Point Mutation in p190A RhoGAP Affects Ciliogenesis and Leads to Glomerulocystic Kidney Defects. PLoS Genet. 2016;12:e1005785 pubmed publisher..Together, our results establish an unexpected link between Rho GTPase regulation, ciliogenesis and glomerulocystic kidney disease. ..
- Toomer K, Fulmer D, Guo L, Drohan A, Peterson N, Swanson P, et al. A role for primary cilia in aortic valve development and disease. Dev Dyn. 2017;246:625-634 pubmed publisher..Developmental Dynamics 246:625-634, 2017. © 2017 Wiley Periodicals, Inc. ..
- Chen J, Zhang Y, Wilde J, Hansen K, Lai F, Niswander L. Microcephaly disease gene Wdr62 regulates mitotic progression of embryonic neural stem cells and brain size. Nat Commun. 2014;5:3885 pubmed publisher..Our results suggest that Wdr62 interacts with Aurora A to control mitotic progression, and loss of these interactions leads to mitotic delay and cell death of NPCs, which could be a potential cause of human microcephaly. ..
- Cheng A, Zhang M, Gentry M, Worby C, Dixon J, Saltiel A. A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease. Genes Dev. 2007;21:2399-409 pubmed..Taken together, these results indicate that binding to glycogen crucially regulates the stability of AGL and, further, that its ubiquitination may play an important role in the pathophysiology of both Lafora and Cori's disease. ..
- Pilaz L, McMahon J, Miller E, Lennox A, Suzuki A, SALMON E, et al. Prolonged Mitosis of Neural Progenitors Alters Cell Fate in the Developing Brain. Neuron. 2016;89:83-99 pubmed publisher..Together our findings reveal that prolonged mitosis is sufficient to alter fates of radial glia progeny and define a new paradigm to understand how mitosis perturbations underlie brain size disorders such as microcephaly. ..
- Daviaud N, Chen K, Huang Y, Friedel R, Zou H. Impaired cortical neurogenesis in plexin-B1 and -B2 double deletion mutant. Dev Neurobiol. 2016;76:882-99 pubmed publisher..2015 Wiley Periodicals, Inc. Develop Neurobiol 76: 882-899, 2016. ..
- He M, Ye W, Wang W, Sison E, Jan Y, Jan L. Cytoplasmic Cl- couples membrane remodeling to epithelial morphogenesis. Proc Natl Acad Sci U S A. 2017;114:E11161-E11169 pubmed publisher..This newly defined role of cytoplasmic Cl- may shed light on the mechanisms of intracellular Cl- signaling events crucial for regulating tissue architecture and organelle biogenesis during animal development. ..
- Bangs F, Antonio N, Thongnuek P, Welten M, Davey M, Briscoe J, et al. Generation of mice with functional inactivation of talpid3, a gene first identified in chicken. Development. 2011;138:3261-72 pubmed publisher..This genetic mouse model will facilitate further conditional approaches, epistatic experiments and open up investigation into the function of the novel talpid3 gene using the many resources available for mice. ..
- Goetz S, Bangs F, Barrington C, Katsanis N, Anderson K. The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling. PLoS ONE. 2017;12:e0173399 pubmed publisher..Moreover, the genetic interaction of Mks1 with components of IFT machinery suggests that the transition zone complex facilitates IFT to promote cilium assembly and structure. ..
- Alten L, Schuster Gossler K, Beckers A, Groos S, Ulmer B, Hegermann J, et al. Differential regulation of node formation, nodal ciliogenesis and cilia positioning by Noto and Foxj1. Development. 2012;139:1276-84 pubmed publisher..Thus, the function of Foxj1 in vertebrate organs of asymmetry is conserved, and Noto regulates node morphogenesis and the posterior localization of cilia on node cells independently of Foxj1. ..
- Noda K, Kitami M, Kitami K, Kaku M, Komatsu Y. Canonical and noncanonical intraflagellar transport regulates craniofacial skeletal development. Proc Natl Acad Sci U S A. 2016;113:E2589-97 pubmed publisher..Our study introduces a unique perspective on the canonical and noncanonical functions of IFT20 in craniofacial skeletal development. ..
- Illenye S, Heintz N. Functional analysis of bacterial artificial chromosomes in mammalian cells: mouse Cdc6 is associated with the mitotic spindle apparatus. Genomics. 2004;83:66-75 pubmed..With RNA interference to assess genetic complementation by BAC alleles, this system will facilitate functional studies on large chromosomal domains at variable copy number in mammalian cell models. ..
- Abdelhamed Z, Vuong S, Hill L, Shula C, Timms A, Beier D, et al. A mutation in Ccdc39 causes neonatal hydrocephalus with abnormal motile cilia development in mice. Development. 2018;145: pubmed publisher..Collectively, our data provide the first evidence for involvement of Ccdc39 in hydrocephalus and suggest that the proper development of medial wall ependymal cilia is crucial for normal mouse brain development. ..
- Bush J, Wevrick R. Loss of Necdin impairs myosin activation and delays cell polarization. Genesis. 2010;48:540-53 pubmed publisher..Furthermore, this is the first demonstration of a cellular defect in PWS and suggests a novel molecular mechanism to explain neurological and muscular pathophysiologies in PWS. ..
- Breunig J, Sarkisian M, Arellano J, Morozov Y, Ayoub A, Sojitra S, et al. Primary cilia regulate hippocampal neurogenesis by mediating sonic hedgehog signaling. Proc Natl Acad Sci U S A. 2008;105:13127-32 pubmed publisher..Our data suggest these organelles are cellular "antennae" critically required to modulate ALNP behavior. ..
- Yee L, Garcia Gonzalo F, Bowie R, Li C, Kennedy J, Ashrafi K, et al. Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling. PLoS Genet. 2015;11:e1005627 pubmed publisher..Thus, we demonstrate that ciliary complexes act in parallel to support ciliary function and suggest that human ciliopathy phenotypes are altered by genetic interactions between different ciliary biochemical complexes. ..
- Hong C, Hamilton B. Zfp423 Regulates Sonic Hedgehog Signaling via Primary Cilium Function. PLoS Genet. 2016;12:e1006357 pubmed publisher..These results define Zfp423 deficiency as a bona fide ciliopathy, acting upstream of Shh signaling, and indicate a mechanism intrinsic to granule cell precursors for the resulting cerebellar hypoplasia. ..
- Omori Y, Chaya T, Katoh K, Kajimura N, Sato S, Muraoka K, et al. Negative regulation of ciliary length by ciliary male germ cell-associated kinase (Mak) is required for retinal photoreceptor survival. Proc Natl Acad Sci U S A. 2010;107:22671-6 pubmed publisher..These results suggest that Mak is essential for the regulation of ciliary length and is required for the long-term survival of photoreceptors. ..
- Fukuda T, Kominami K, Wang S, Togashi H, Hirata K, Mizoguchi A, et al. Aberrant cochlear hair cell attachments caused by Nectin-3 deficiency result in hair bundle abnormalities. Development. 2014;141:399-409 pubmed publisher..These results indicate that, owing to the loss of Nectin-3, hair cells contact each other inappropriately and form abnormal junctions, ultimately resulting in abnormal hair bundle orientation and morphology. ..
- Breuss M, Fritz T, Gstrein T, Chan K, Ushakova L, Yu N, et al. Mutations in the murine homologue of TUBB5 cause microcephaly by perturbing cell cycle progression and inducing p53-associated apoptosis. Development. 2016;143:1126-33 pubmed publisher..This work sheds light on the functional repertoire of Tubb5, reveals that the E401K mutation acts by a complex mechanism, and demonstrates that the cellular pathology driving TUBB5-associated microcephaly is cell death. ..
- Chang R, Petersen J, Niswander L, Liu A. A hypomorphic allele reveals an important role of inturned in mouse skeletal development. Dev Dyn. 2015;244:736-47 pubmed publisher..However, patterning of the neural tube and planar cell polarity appear to be normal. This hypomorphic Intu allele highlights an important role of Intu in mouse skeletal development. ..
- Muroyama A, Seldin L, Lechler T. Divergent regulation of functionally distinct Î³-tubulin complexes during differentiation. J Cell Biol. 2016;213:679-92 pubmed publisher..Collectively, our studies demonstrate that distinct Î³-tubulin complexes regulate different microtubule behaviors at the centrosome and show that differential regulation of these complexes drives loss of centrosomal MTOC activity. ..
- Grosse A, Pressprich M, Curley L, Hamilton K, Margolis B, Hildebrand J, et al. Cell dynamics in fetal intestinal epithelium: implications for intestinal growth and morphogenesis. Development. 2011;138:4423-32 pubmed publisher..These results favor an alternative model of intestinal morphogenesis in which the epithelium remains single layered and apicobasally polarized throughout early intestinal development. ..
- Chamberlain C, Jeong J, Guo C, Allen B, McMahon A. Notochord-derived Shh concentrates in close association with the apically positioned basal body in neural target cells and forms a dynamic gradient during neural patterning. Development. 2008;135:1097-106 pubmed publisher..This study, in which we directly observe, measure, localize and modify notochord-derived Shh ligand in the context of neural patterning, provides several new insights into mechanisms of Shh morphogen action...
- Christopher K, Wang B, Kong Y, Weatherbee S. Forward genetics uncovers Transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling. Dev Biol. 2012;368:382-92 pubmed publisher..Together, these studies identify a previously unknown regulator of ciliogenesis and provide insight into how ciliary factors affect Shh signaling and cilia biogenesis in distinct tissues. ..
- Boutin C, Labedan P, Dimidschstein J, Richard F, Cremer H, Andre P, et al. A dual role for planar cell polarity genes in ciliated cells. Proc Natl Acad Sci U S A. 2014;111:E3129-38 pubmed publisher..Loss of either of these signals is associated with specific defects in the cytoskeleton. Our data reveal unreported functions of PCP and provide an integrated view of planar polarization of the brain ciliated cells. ..
- Watanabe T, Chuma S, Yamamoto Y, Kuramochi Miyagawa S, Totoki Y, Toyoda A, et al. MITOPLD is a mitochondrial protein essential for nuage formation and piRNA biogenesis in the mouse germline. Dev Cell. 2011;20:364-75 pubmed publisher..Our results indicate a conserved role for MITOPLD/Zuc in the piRNA pathway and link mitochondrial membrane metabolism/signaling to small RNA biogenesis. ..
- FerrÃ³n S, Radford E, Domingo Muelas A, Kleine I, Ramme A, Gray D, et al. Differential genomic imprinting regulates paracrine and autocrine roles of IGF2 in mouse adult neurogenesis. Nat Commun. 2015;6:8265 pubmed publisher..Our findings indicate that a regulatory decision to imprint or not is a functionally important mechanism of transcriptional dosage control in adult neurogenesis. ..
- Xie Y, Jüschke C, Esk C, Hirotsune S, Knoblich J. The phosphatase PP4c controls spindle orientation to maintain proliferative symmetric divisions in the developing neocortex. Neuron. 2013;79:254-65 pubmed publisher..Our results identify a key regulator of cortical development and demonstrate that changes in the orientation of progenitor division are responsible for the transition between symmetric and asymmetric cell division. ..
- Willaredt M, Gorgas K, Gardner H, Tucker K. Multiple essential roles for primary cilia in heart development. Cilia. 2012;1:23 pubmed publisher..Our data further point to a potential linkage of atrioventricular septal defects, the most common congenital heart defects, to genes of the transport machinery or basal body of the cilia. ..
- Vinopal S, Cernohorská M, Sulimenko V, Sulimenko T, Vosecká V, Flemr M, et al. ?-Tubulin 2 nucleates microtubules and is downregulated in mouse early embryogenesis. PLoS ONE. 2012;7:e29919 pubmed publisher..Previous analysis of Tubg1 and Tubg2 knock-out mice has suggested that ?-tubulins are not functionally equivalent...
- Pramparo T, Youn Y, Yingling J, Hirotsune S, Wynshaw Boris A. Novel embryonic neuronal migration and proliferation defects in Dcx mutant mice are exacerbated by Lis1 reduction. J Neurosci. 2010;30:3002-12 pubmed publisher..Thus, we provide definitive evidence for a critical role for Dcx in neuronal migration and neurogenesis, as well as for the in vivo genetic interaction of the two genes most commonly involved in human neuronal migration defects. ..
- Di Fiore B, Ciciarello M, Mangiacasale R, Palena A, Tassin A, Cundari E, et al. Mammalian RanBP1 regulates centrosome cohesion during mitosis. J Cell Sci. 2003;116:3399-411 pubmed..These data indicate that overexpressed RanBP1 interferes with crucial factor(s) that control structural and dynamic features of centrosomes during mitosis and contribute to uncover novel mitotic functions downstream of the Ran network. ..
- Chacon Heszele M, Ren D, Reynolds A, Chi F, Chen P. Regulation of cochlear convergent extension by the vertebrate planar cell polarity pathway is dependent on p120-catenin. Development. 2012;139:968-78 pubmed publisher..Together, these results indicate that the vertebrate PCP pathway regulates CE and hair cell polarity independently and that a p120-catenin-dependent mechanism regulates CE of the cochlea. ..
- KUSEK G, Campbell M, Doyle F, Tenenbaum S, Kiebler M, Temple S. Asymmetric segregation of the double-stranded RNA binding protein Staufen2 during mammalian neural stem cell divisions promotes lineage progression. Cell Stem Cell. 2012;11:505-16 pubmed publisher..We immunoprecipitated Stau2 to examine its cargo mRNAs, and found enrichment for known asymmetric and basal cell determinants, such as Trim32, and identified candidates, including a subset involved in primary cilium function. ..
- Bakircioglu M, Carvalho O, Khurshid M, Cox J, Tuysuz B, Barak T, et al. The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. Am J Hum Genet. 2011;88:523-35 pubmed publisher..Thus, NDE1 deficiency causes both a severe failure of neurogenesis and a deficiency in cortical lamination. Our data further highlight the importance of the centrosome in multiple aspects of neurodevelopment. ..
- Siller S, Sharma H, Li S, Yang J, Zhang Y, Holtzman M, et al. Conditional knockout mice for the distal appendage protein CEP164 reveal its essential roles in airway multiciliated cell differentiation. PLoS Genet. 2017;13:e1007128 pubmed publisher..Furthermore, our mouse model provides a useful tool to gain physiological insight into diseases associated with defective multicilia. ..
- Chilov D, Sinjushina N, Rita H, Taketo M, Makela T, Partanen J. Phosphorylated ?-catenin localizes to centrosomes of neuronal progenitors and is required for cell polarity and neurogenesis in developing midbrain. Dev Biol. 2011;357:259-68 pubmed publisher..The results demonstrate a novel function for p-?-cat in maintaining neuroepithelial integrity and suggest that centrosomal p-ß-cat is required to maintain symmetric cleavages and polarity in neural progenitors. ..
- Tong C, Han Y, Shah J, Obernier K, Guinto C, Alvarez Buylla A. Primary cilia are required in a unique subpopulation of neural progenitors. Proc Natl Acad Sci U S A. 2014;111:12438-43 pubmed publisher..Primary cilia ablation led to disruption of Hh signaling in this subdomain. We conclude that primary cilia are required in a specific Hh-regulated subregion of the postnatal V-SVZ. ..
- Kadzik R, Cohen E, Morley M, Stewart K, Lu M, Morrisey E. Wnt ligand/Frizzled 2 receptor signaling regulates tube shape and branch-point formation in the lung through control of epithelial cell shape. Proc Natl Acad Sci U S A. 2014;111:12444-9 pubmed publisher..This study demonstrates the importance of Wnt/Fzd2 signaling in promoting and maintaining changes in epithelial cell shape that affect development of a branching network. ..
- Layman W, McEwen D, Beyer L, Lalani S, Fernbach S, Oh E, et al. Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome. Hum Mol Genet. 2009;18:1909-23 pubmed publisher..These studies provide evidence that mammalian olfactory dysfunction due to Chd7 haploinsufficiency is linked to primary defects in olfactory neural stem cell proliferation and may influence olfactory bulb development. ..
- Chen J, Laclef C, Moncayo A, Snedecor E, Yang N, Li L, et al. The ciliopathy gene Rpgrip1l is essential for hair follicle development. J Invest Dermatol. 2015;135:701-709 pubmed publisher..This study indicates that RPGRIP1L, a ciliopathy gene, is essential for hair follicle morphogenesis likely through regulating primary cilia formation and the hedgehog signaling pathway. ..
- Damerla R, Cui C, Gabriel G, Liu X, Craige B, Gibbs B, et al. Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies. Hum Mol Genet. 2015;24:3994-4005 pubmed publisher..Our findings demonstrate JBTS17 is a cilia transition zone component that acts upstream of other Joubert syndrome associated transition zone proteins NPHP1 and CEP290, indicating its importance in the pathogenesis of Joubert syndrome. ..
- Gai M, Bianchi F, Vagnoni C, Vernì F, Bonaccorsi S, Pasquero S, et al. ASPM and CITK regulate spindle orientation by affecting the dynamics of astral microtubules. EMBO Rep. 2016;17:1396-1409 pubmed..Finally, CITK regulates both astral-MT nucleation and stability. Our results provide a functional link between two established microcephaly proteins. ..
- Chen C, Hehnly H, Yu Q, Farkas D, Zheng G, Redick S, et al. A unique set of centrosome proteins requires pericentrin for spindle-pole localization and spindle orientation. Curr Biol. 2014;24:2327-2334 pubmed publisher..Not only do these data reveal a spindle-pole-localized complex for spindle orientation, but they identify key spindle symmetry proteins involved in the pathogenesis of MOPDII. ..
- Song H, Hu J, Chen W, Elliott G, Andre P, Gao B, et al. Planar cell polarity breaks bilateral symmetry by controlling ciliary positioning. Nature. 2010;466:378-82 pubmed publisher..Our data suggest that PCP acts earlier than the unidirectional nodal flow during bilateral symmetry breaking in vertebrates and provide insight into the functional mechanism of PCP in organizing the vertebrate tissues in development. ..
- Huang X, Andreu Vieyra C, York J, Hatcher R, Lu T, Matzuk M, et al. Inhibitory phosphorylation of separase is essential for genome stability and viability of murine embryonic germ cells. PLoS Biol. 2008;6:e15 pubmed publisher..Our results indicate that inhibitory phosphorylation of separase plays a critical role in the maintenance of sister chromatid cohesion and genome stability in proliferating postmigratory primordial germ cells. ..
- Agbu S, Liang Y, Liu A, Anderson K. The small GTPase RSG1 controls a final step in primary cilia initiation. J Cell Biol. 2018;217:413-427 pubmed publisher..The data suggest a specific role for RSG1 in the final maturation of the mother centriole and ciliary vesicle that allows extension of the ciliary axoneme. ..
- Tao H, Shimizu M, Kusumoto R, Ono K, Noji S, Ohuchi H. A dual role of FGF10 in proliferation and coordinated migration of epithelial leading edge cells during mouse eyelid development. Development. 2005;132:3217-30 pubmed
- Abdelhamed Z, Natarajan S, Wheway G, Inglehearn C, Toomes C, Johnson C, et al. The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway. Dis Model Mech. 2015;8:527-41 pubmed publisher..Downstream therapeutic targeting of the Wnt5a-TMEM67-ROR2 axis might, therefore, reduce or prevent pulmonary hypoplasia in ciliopathies and other congenital conditions. ..
- Himmelstein D, Cajigas I, Bi C, Clark B, van der Voort G, Kohtz J. SHH E176/E177-Zn2+ conformation is required for signaling at endogenous sites. Dev Biol. 2017;424:221-235 pubmed publisher..Together, these results reveal a novel role for E177-Zn2+ in regulating SHH signaling that may involve critical, cilia basal-body localized changes in cross-linking and/or conformation. ..