Genomes and Genes
Gene Symbol: Gli1
Description: GLI-Kruppel family member GLI1
Alias: AV235269, Zfp-5, Zfp5, zinc finger protein GLI1, glioma-associated oncogene homolog, zinc finger protein 5
- Spassky N, Han Y, Aguilar A, Strehl L, Besse L, Laclef C, et al. Primary cilia are required for cerebellar development and Shh-dependent expansion of progenitor pool. Dev Biol. 2008;317:246-59 pubmed publisher..Dysfunctional cilia are associated with diverse human disorders including Bardet-Biedl and Joubert syndromes. Cerebellar abnormalities observed in these patients could be explained by defects in Shh-induced GCP expansion. ..
- Capellini T, Di Giacomo G, Salsi V, Brendolan A, Ferretti E, Srivastava D, et al. Pbx1/Pbx2 requirement for distal limb patterning is mediated by the hierarchical control of Hox gene spatial distribution and Shh expression. Development. 2006;133:2263-73 pubmed
- Panman L, Galli A, Lagarde N, Michos O, Soete G, Zuniga A, et al. Differential regulation of gene expression in the digit forming area of the mouse limb bud by SHH and gremlin 1/FGF-mediated epithelial-mesenchymal signalling. Development. 2006;133:3419-28 pubmed
- Kolpakova Hart E, Jinnin M, Hou B, Fukai N, Olsen B. Kinesin-2 controls development and patterning of the vertebrate skeleton by Hedgehog- and Gli3-dependent mechanisms. Dev Biol. 2007;309:273-84 pubmed..the repressor function of Gli3 transcription factor and the activation of the Shh transcriptional targets Ptch and Gli1 are compromised...
- Hoover A, Wynkoop A, Zeng H, Jia J, Niswander L, Liu A. C2cd3 is required for cilia formation and Hedgehog signaling in mouse. Development. 2008;135:4049-58 pubmed publisher..Interestingly, the human ortholog for this gene lies in proximity to the critical regions of Meckel-Gruber syndrome 2 (MKS2) and Joubert syndrome 2 (JBTS2), making it a potential candidate for these two human genetic disorders. ..
- Mukhopadhyay S, Wen X, Ratti N, Loktev A, Rangell L, Scales S, et al. The ciliary G-protein-coupled receptor Gpr161 negatively regulates the Sonic hedgehog pathway via cAMP signaling. Cell. 2013;152:210-23 pubmed publisher..Conversely, Shh signaling directs Gpr161 to be internalized from cilia, preventing its activity. Thus, Gpr161 defines a morphogenetic pathway coupling protein kinase A activation to Shh signaling during neural tube development. ..
- Hojo H, Ohba S, Yano F, Saito T, Ikeda T, Nakajima K, et al. Gli1 protein participates in Hedgehog-mediated specification of osteoblast lineage during endochondral ossification. J Biol Chem. 2012;287:17860-9 pubmed publisher..to Hedgehog signaling in mammalian development, the majority of research has focused on Gli2 and Gli3 rather than Gli1. This is because Gli1(-/-) mice do not show any gross abnormalities in adulthood, and no detailed analyses of fetal ..
- Endoh Yamagami S, Evangelista M, Wilson D, Wen X, Theunissen J, Phamluong K, et al. The mammalian Cos2 homolog Kif7 plays an essential role in modulating Hh signal transduction during development. Curr Biol. 2009;19:1320-6 pubmed publisher..These results suggest a role for Kif7 in coordinating Hh signal transduction at the tip of cilia and preventing Gli3 cleavage into a repressor form in the presence of Hh. ..
- Butterfield N, Metzis V, McGlinn E, Bruce S, Wainwright B, Wicking C. Patched 1 is a crucial determinant of asymmetry and digit number in the vertebrate limb. Development. 2009;136:3515-24 pubmed publisher..These results establish the importance of the downstream consequences of Hh pathway repression, and identify Ptc1 as a key player in limb patterning even prior to the onset of Shh expression. ..
- Aoto K, Shikata Y, Imai H, Matsumaru D, Tokunaga T, Shioda S, et al. Mouse Shh is required for prechordal plate maintenance during brain and craniofacial morphogenesis. Dev Biol. 2009;327:106-20 pubmed publisher..These findings provide new insight into the mechanism underlying HPE pathoetiology during dynamic brain and craniofacial morphogenesis. ..
- Heydeck W, Zeng H, Liu A. Planar cell polarity effector gene Fuzzy regulates cilia formation and Hedgehog signal transduction in mouse. Dev Dyn. 2009;238:3035-42 pubmed publisher..Finally, a significant decrease in cilia was found in Fuz homozygous mutants. In conclusion, Fuz plays an important role in cilia formation, Hh signal transduction, and embryonic development in mammals...
- Xu Q, Guo L, Moore H, Waclaw R, Campbell K, Anderson S. Sonic hedgehog signaling confers ventral telencephalic progenitors with distinct cortical interneuron fates. Neuron. 2010;65:328-40 pubmed publisher..These results indicate that cortical interneuron diversity, a major determinant of cortical function, is critically influenced by differential levels of SHH signaling within the ventral telencephalon. ..
- Lin C, Fisher A, Yin Y, Maruyama T, Veith G, Dhandha M, et al. The inductive role of Wnt-?-Catenin signaling in the formation of oral apparatus. Dev Biol. 2011;356:40-50 pubmed publisher..We provide genetic evidence that disruption of either signaling pathway results in severe microglossia. Altogether, we demonstrate a dynamic role for Wnt-?-Catenin signaling in the development of the oral apparatus...
- Galli A, Robay D, Osterwalder M, Bao X, Bénazet J, Tariq M, et al. Distinct roles of Hand2 in initiating polarity and posterior Shh expression during the onset of mouse limb bud development. PLoS Genet. 2010;6:e1000901 pubmed publisher..Our study uncovers essential components of the transcriptional machinery and key interactions that set-up limb bud asymmetry upstream of establishing the SHH signaling limb bud organizer. ..
- Bénazet J, Bischofberger M, Tiecke E, Gonçalves A, Martin J, Zuniga A, et al. A self-regulatory system of interlinked signaling feedback loops controls mouse limb patterning. Science. 2009;323:1050-3 pubmed publisher..This self-regulatory signaling network results in robust regulation of distal limb development that is able to compensate for variations by interconnectivity among the three signaling pathways. ..
- Brugmann S, Allen N, James A, Mekonnen Z, Madan E, Helms J. A primary cilia-dependent etiology for midline facial disorders. Hum Mol Genet. 2010;19:1577-92 pubmed publisher..to excessive Hedgehog responsiveness in facial mesenchyme, which is accompanied by broader expression domains of Gli1, Ptc and Shh, and reduced expression domains of Gli3...
- Cheng W, Yeung C, Ng Y, Zhang J, Hui C, Kim P. Sonic Hedgehog mediator Gli2 regulates bladder mesenchymal patterning. J Urol. 2008;180:1543-50 pubmed publisher..Our data suggests that the Shh transcriptional factor Gli2 regulates radial patterning of the bladder mesenchyma. ..
- Bimonte S, De Angelis A, Quagliata L, Giusti F, Tammaro R, Dallai R, et al. Ofd1 is required in limb bud patterning and endochondral bone development. Dev Biol. 2011;349:179-91 pubmed publisher..Our data demonstrate that Ofd1 plays a role in regulating digit number and identity during limb and skeletal patterning increasing insight on the functional role of primary cilia during development. ..
- Allen B, Song J, Izzi L, Althaus I, Kang J, Charron F, et al. Overlapping roles and collective requirement for the coreceptors GAS1, CDO, and BOC in SHH pathway function. Dev Cell. 2011;20:775-87 pubmed publisher..Most strikingly, genetic loss-of-function experiments indicate an obligatory requirement for GAS1, CDO, and BOC in HH pathway activity in multiple tissues. ..
- Zhang W, Kang J, Cole F, Yi M, Krauss R. Cdo functions at multiple points in the Sonic Hedgehog pathway, and Cdo-deficient mice accurately model human holoprosencephaly. Dev Cell. 2006;10:657-65 pubmed..Specific Cdo domains required for its promyogenic effect are dispensable for its Shh signaling role, suggesting that Cdo has multiple, independent functions. ..
- Hu M, Mo R, Bhella S, Wilson C, Chuang P, Hui C, et al. GLI3-dependent transcriptional repression of Gli1, Gli2 and kidney patterning genes disrupts renal morphogenesis. Development. 2006;133:569-78 pubmed..Shh deficiency or cyclopamine-mediated SMO inhibition disrupted renal organogenesis, decreased expression of GLI1 and GLI2 proteins, but increased expression of GLI3 repressor relative to GLI3 activator...
- Lana Elola E, Tylzanowski P, Takatalo M, Alakurtti K, Veistinen L, Mitsiadis T, et al. Noggin null allele mice exhibit a microform of holoprosencephaly. Hum Mol Genet. 2011;20:4005-15 pubmed publisher..In Noggin(-/-) mice, the expression domains of Shh, as well as the Shh target genes Ptch1 and Gli1, were reduced in the frontonasal region at key stages of early facial development. Using E10...
- Bassett E, Williams T, Zacharias A, Gage P, Fuhrmann S, West Mays J. AP-2alpha knockout mice exhibit optic cup patterning defects and failure of optic stalk morphogenesis. Hum Mol Genet. 2010;19:1791-804 pubmed publisher..In view of recent data showing that mutations in human TFAP2A result in similar eye defects, the current findings demonstrate that AP-2alpha KO mice provide a valuable model for human ocular disease...
- Izzi L, Levesque M, Morin S, Laniel D, Wilkes B, Mille F, et al. Boc and Gas1 each form distinct Shh receptor complexes with Ptch1 and are required for Shh-mediated cell proliferation. Dev Cell. 2011;20:788-801 pubmed publisher..Together, this demonstrates an absolute requirement for Boc, Cdon, and Gas1 in Hh signaling and reveals a distinct requirement for ligand-binding components that distinguishes the vertebrate and invertebrate Hh receptor systems. ..
- Balordi F, Fishell G. Mosaic removal of hedgehog signaling in the adult SVZ reveals that the residual wild-type stem cells have a limited capacity for self-renewal. J Neurosci. 2007;27:14248-59 pubmed..These results demonstrate that ongoing hedgehog signaling is required to maintain adult neural stem cells and that their ability to self-renew is limited. ..
- Wang C, Ruther U, Wang B. The Shh-independent activator function of the full-length Gli3 protein and its role in vertebrate limb digit patterning. Dev Biol. 2007;305:460-9 pubmed
- Hong M, Krauss R. Cdon mutation and fetal ethanol exposure synergize to produce midline signaling defects and holoprosencephaly spectrum disorders in mice. PLoS Genet. 2012;8:e1002999 pubmed publisher..Furthermore, gene-environment interactions are likely to be important in the multifactorial etiology of HPE...
- Barnfield P, Zhang X, Thanabalasingham V, Yoshida M, Hui C. Negative regulation of Gli1 and Gli2 activator function by Suppressor of fused through multiple mechanisms. Differentiation. 2005;73:397-405 pubmed..We demonstrate here that Su(fu) prevents the nuclear accumulation of Gli1 and Gli2 through multiple mechanisms...
- Zhang Z, Verheyden J, Hassell J, Sun X. FGF-regulated Etv genes are essential for repressing Shh expression in mouse limb buds. Dev Cell. 2009;16:607-13 pubmed publisher..This finding elucidates a novel aspect of the mechanism coordinating limb development along the A-P and P-D axes...
- Wall D, Mears A, McNeill B, Mazerolle C, Thurig S, Wang Y, et al. Progenitor cell proliferation in the retina is dependent on Notch-independent Sonic hedgehog/Hes1 activity. J Cell Biol. 2009;184:101-12 pubmed publisher..This paper is the first demonstration of the mechanistic and functional link between Shh, Gli, and Hes1 in the regulation of progenitor cell behavior. ..
- Hoffmann A, Peterson M, Friedland Little J, Anderson S, Moskowitz I. sonic hedgehog is required in pulmonary endoderm for atrial septation. Development. 2009;136:1761-70 pubmed publisher..Using genetic inducible fate mapping with Gli1(CreERT2), we marked Hh-receiving progenitors in anterior and posterior second heart field splanchnic mesoderm ..
- Brownell I, Guevara E, Bai C, Loomis C, Joyner A. Nerve-derived sonic hedgehog defines a niche for hair follicle stem cells capable of becoming epidermal stem cells. Cell Stem Cell. 2011;8:552-65 pubmed publisher..Shh) from neurons signals to a population of cells in the telogen bulge marked by the Hedgehog response gene Gli1. Gli1-expressing bulge cells function as multipotent stem cells in their native environment and repeatedly ..
- Jagani Z, Mora Blanco E, Sansam C, McKenna E, Wilson B, Chen D, et al. Loss of the tumor suppressor Snf5 leads to aberrant activation of the Hedgehog-Gli pathway. Nat Med. 2010;16:1429-33 pubmed publisher..To investigate the mechanism by which glioma-associated oncogene family zinc finger-1 (GLI1), a crucial effector of Hh signaling, regulates Hh pathway activation, we searched for GLI1-interacting proteins...
- Di Marcotullio L, Greco A, Mazza D, Canettieri G, Pietrosanti L, Infante P, et al. Numb activates the E3 ligase Itch to control Gli1 function through a novel degradation signal. Oncogene. 2011;30:65-76 pubmed publisherHedgehog pathway regulates tissue patterning and cell proliferation. Gli1 transcription factor is the major effector of Hedgehog signaling and its deregulation is often associated to medulloblastoma formation...
- Park J, Zhang J, Moro A, Kushida M, Wegner M, Kim P. Regulation of Sox9 by Sonic Hedgehog (Shh) is essential for patterning and formation of tracheal cartilage. Dev Dyn. 2010;239:514-26 pubmed publisher..These results indicate that Shh signalling is a critical determinant in tracheal cartilage development. ..
- Svärd J, Heby Henricson K, Henricson K, Persson Lek M, Rozell B, Lauth M, et al. Genetic elimination of Suppressor of fused reveals an essential repressor function in the mammalian Hedgehog signaling pathway. Dev Cell. 2006;10:187-97 pubmed..Despite the robust constitutive pathway activation in the Sufu(-/-) fibroblasts, the GLI1 steady-state localization remained largely cytoplasmic, implying the presence of an effective nuclear export ..
- Blaess S, Corrales J, Joyner A. Sonic hedgehog regulates Gli activator and repressor functions with spatial and temporal precision in the mid/hindbrain region. Development. 2006;133:1799-809 pubmed..Thus, the precise spatial and temporal regulation of Gli2A and Gli3R by Shh is instrumental in coordinating mid/hindbrain development in three dimensions. ..
- Ohazama A, Haycraft C, Seppala M, Blackburn J, Ghafoor S, Cobourne M, et al. Primary cilia regulate Shh activity in the control of molar tooth number. Development. 2009;136:897-903 pubmed publisher..Strikingly, the ectopic teeth adopt a size and shape characteristic of premolars, a tooth type that was lost in mice around 50-100 million years ago. ..
- Balaskas N, Ribeiro A, Panovska J, Dessaud E, Sasai N, Page K, et al. Gene regulatory logic for reading the Sonic Hedgehog signaling gradient in the vertebrate neural tube. Cell. 2012;148:273-84 pubmed publisher..Our findings reveal that morphogen interpretation is an emergent property of the architecture of a transcriptional network that provides robustness and reliability to tissue patterning. ..
- Mariani F, Ahn C, Martin G. Genetic evidence that FGFs have an instructive role in limb proximal-distal patterning. Nature. 2008;453:401-5 pubmed publisher..We discuss how a two-signal model for P-D patterning can be integrated with the concept of early specification to explain the genetic data presented here. ..
- Seppala M, Depew M, Martinelli D, Fan C, Sharpe P, Cobourne M. Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog. J Clin Invest. 2007;117:1575-84 pubmed..As human GAS1 maps to chromosome 9q21.3-q22, a region previously associated with nonsyndromic cleft palate and congenital deafness, our results establish GAS1 as a potential locus for several human craniofacial malformations. ..
- Hatsell S, Cowin P. Gli3-mediated repression of Hedgehog targets is required for normal mammary development. Development. 2006;133:3661-70 pubmed..Misactivation of the Hedgehog pathway by targeted expression of the constitutive activator Gli1, from the Gli2 promoter in Gli3(xt/+) mice, also induces mammary bud loss...
- Tenzen T, Allen B, Cole F, Kang J, Krauss R, McMahon A. The cell surface membrane proteins Cdo and Boc are components and targets of the Hedgehog signaling pathway and feedback network in mice. Dev Cell. 2006;10:647-56 pubmed..Cdo and Boc bind Shh through a high-affinity interaction with a specific fibronectin repeat that is essential for activity. We propose a model where Cdo and Boc enhance Shh signaling within its target field. ..
- Zhang Z, Wlodarczyk B, Niederreither K, Venugopalan S, Florez S, Finnell R, et al. Fuz regulates craniofacial development through tissue specific responses to signaling factors. PLoS ONE. 2011;6:e24608 pubmed publisher..These data demonstrate a new model for coordination of Hh and Wnt signaling and reveal a Fuz-dependent negative feedback loop controlling Wnt/?-catenin signaling...
- King P, Paul A, Laufer E. Shh signaling regulates adrenocortical development and identifies progenitors of steroidogenic lineages. Proc Natl Acad Sci U S A. 2009;106:21185-90 pubmed publisher..Our findings both support a novel dual lineage, Shh-independent and Shh-dependent, model of adrenocortical development, and identify distinct populations of adrenocortical progenitor and candidate stem cells...
- Chizhikov V, Davenport J, Zhang Q, Shih E, Cabello O, Fuchs J, et al. Cilia proteins control cerebellar morphogenesis by promoting expansion of the granule progenitor pool. J Neurosci. 2007;27:9780-9 pubmed
- Bok J, Dolson D, Hill P, Ruther U, Epstein D, Wu D. Opposing gradients of Gli repressor and activators mediate Shh signaling along the dorsoventral axis of the inner ear. Development. 2007;134:1713-22 pubmed..Taken together, our data suggest that reciprocal gradients of GliA and GliR mediate the responses to Shh signaling along the dorsoventral axis of the inner ear...
- Kolterud A, Grosse A, Zacharias W, Walton K, Kretovich K, Madison B, et al. Paracrine Hedgehog signaling in stomach and intestine: new roles for hedgehog in gastrointestinal patterning. Gastroenterology. 2009;137:618-28 pubmed publisher..cells of the serosa transduce Hedgehog signals in fetal life; the hindgut epithelium expresses Ptch but not Gli1 at E10...
- Krawchuk D, Weiner S, Chen Y, Lu B, Costantini F, Behringer R, et al. Twist1 activity thresholds define multiple functions in limb development. Dev Biol. 2010;347:133-46 pubmed publisher..Our data support a model whereby multiple Twist1 activity thresholds contribute to early limb bud patterning, and suggest how particular combinations of skeletal defects result from differing amounts of Twist1 activity. ..
- Tripathi P, Guo Q, Wang Y, Coussens M, Liapis H, Jain S, et al. Midline signaling regulates kidney positioning but not nephrogenesis through Shh. Dev Biol. 2010;340:518-27 pubmed publisher..These studies also provide insights into the pathogenesis of horseshoe kidneys and how congenital kidney defects can be caused by signals outside the renal primordia. ..
- Hojo H, Ohba S, Taniguchi K, Shirai M, Yano F, Saito T, et al. Hedgehog-Gli activators direct osteo-chondrogenic function of bone morphogenetic protein toward osteogenesis in the perichondrium. J Biol Chem. 2013;288:9924-32 pubmed publisher..In vitro analyses revealed that Hh signaling suppressed BMP-induced chondrogenic differentiation; Gli1 inhibited the expression of Sox5, Sox6, and Sox9 (SRY box-containing gene 9) as well as transactivation by Sox9...
- Po A, Ferretti E, Miele E, De Smaele E, Paganelli A, Canettieri G, et al. Hedgehog controls neural stem cells through p53-independent regulation of Nanog. EMBO J. 2010;29:2646-58 pubmed publisher..Indeed, the downstream effectors of Hh activity, Gli1 and Gli2, bind to Nanog-specific cis-regulatory sequences both in mouse and human SCs...
- Chen M, Wilson C, Li Y, Law K, Lu C, Gacayan R, et al. Cilium-independent regulation of Gli protein function by Sufu in Hedgehog signaling is evolutionarily conserved. Genes Dev. 2009;23:1910-28 pubmed publisher..Taken together, these studies delineate important aspects of cilium-dependent and cilium-independent Hh signal transduction and provide significant mechanistic insight into Hh signaling in diverse species. ..
- Corrales J, Blaess S, Mahoney E, Joyner A. The level of sonic hedgehog signaling regulates the complexity of cerebellar foliation. Development. 2006;133:1811-21 pubmed..By progressively lowering signaling by removing Gli1 and Gli2 or the Shh receptor smoothened, we found the extent of foliation is gradually reduced, and that this ..
- Schüller U, Heine V, Mao J, Kho A, Dillon A, Han Y, et al. Acquisition of granule neuron precursor identity is a critical determinant of progenitor cell competence to form Shh-induced medulloblastoma. Cancer Cell. 2008;14:123-34 pubmed publisher..Thus, oncogenic Hh signaling promotes medulloblastoma from lineage-restricted granule cell progenitors. ..
- Seidel K, Ahn C, Lyons D, Nee A, Ting K, Brownell I, et al. Hedgehog signaling regulates the generation of ameloblast progenitors in the continuously growing mouse incisor. Development. 2010;137:3753-61 pubmed publisher..These results therefore reveal the existence of a positive-feedback loop in which differentiating progeny produce the signal that in turn allows them to be generated from stem cells...
- Cui C, Chatterjee B, Francis D, Yu Q, SanAgustin J, Francis R, et al. Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome. Dis Model Mech. 2011;4:43-56 pubmed publisher..On the basis of these results, we hypothesize a role for the B9 domain in mother centriole targeting, a possibility that warrants further future investigations. ..
- Haraguchi R, Motoyama J, Sasaki H, Satoh Y, Miyagawa S, Nakagata N, et al. Molecular analysis of coordinated bladder and urogenital organ formation by Hedgehog signaling. Development. 2007;134:525-33 pubmed..Thus, the mesenchymal precursors for multiple urogenital structures derive from peri-cloacal mesenchyme and the coordination of urogenital organ formation from these precursors is orchestrated by Shh signals. ..
- Vokes S, Ji H, Wong W, McMahon A. A genome-scale analysis of the cis-regulatory circuitry underlying sonic hedgehog-mediated patterning of the mammalian limb. Genes Dev. 2008;22:2651-63 pubmed publisher..These studies provide the first comprehensive characterization of the transcriptional output of a Shh-patterning process in the mammalian embryo and a framework for elaborating regulatory networks in the developing limb. ..
- Hayes L, Zhang Z, Albert P, Zervas M, Ahn S. Timing of Sonic hedgehog and Gli1 expression segregates midbrain dopamine neurons. J Comp Neurol. 2011;519:3001-18 pubmed publisher..Using genetic inducible fate mapping to mark the Sonic hedgehog (Shh) and Gli1 lineages at varying embryonic stages, we performed a quantitative and qualitative comparison of the two lineages' ..
- Liu C, Aschbacher Smith L, Barthelery N, Dyment N, Butler D, Wylie C. Spatial and temporal expression of molecular markers and cell signals during normal development of the mouse patellar tendon. Tissue Eng Part A. 2012;18:598-608 pubmed publisher..These data will allow both the functional analysis of specific signaling pathways in tenocyte development and their application to tissue-engineering studies in vitro. ..
- Stecca B, Ruiz i Altaba A. A GLI1-p53 inhibitory loop controls neural stem cell and tumour cell numbers. EMBO J. 2009;28:663-76 pubmed publisher..However, it is not known whether GLI1, the final mediator of Hh signals, controls stem cell numbers, and how its activity is restricted to curtail ..
- Miyagawa S, Moon A, Haraguchi R, Inoue C, Harada M, Nakahara C, et al. Dosage-dependent hedgehog signals integrated with Wnt/beta-catenin signaling regulate external genitalia formation as an appendicular program. Development. 2009;136:3969-78 pubmed publisher..Our results provide new insights into the integration of growth factor signaling in the appendicular developmental programs that regulate external genitalia development...
- Sheth R, Bastida M, Ros M. Hoxd and Gli3 interactions modulate digit number in the amniote limb. Dev Biol. 2007;310:430-41 pubmed..Our results also support the notion that an adequate balance between positive and negative effects of different Hoxd genes is required for pentadactyly. ..
- Babbs C, Furniss D, Morriss Kay G, Wilkie A. Polydactyly in the mouse mutant Doublefoot involves altered Gli3 processing and is caused by a large deletion in cis to Indian hedgehog. Mech Dev. 2008;125:517-26 pubmed publisher..The large deletion interval may explain the wide range of abnormalities in Dbf/(+) mutants. However, we did not detect anologous deletions in cases of Laurin-Sandrow syndrome, a human disorder that shows phenotypic similarities to Dbf...
- Szczepny A, Hime G, Loveland K. Expression of hedgehog signalling components in adult mouse testis. Dev Dyn. 2006;235:3063-70 pubmed..Overall, the coordinated expression pattern of these genes in adult mouse testis indicates a role for Hh signalling in spermatogenesis. ..
- Pan Y, Bai C, Joyner A, Wang B. Sonic hedgehog signaling regulates Gli2 transcriptional activity by suppressing its processing and degradation. Mol Cell Biol. 2006;26:3365-77 pubmed..Both processing and degradation of Gli2 are suppressed by Shh signaling in vivo. Our findings provide the first demonstration of a molecular mechanism by which the Gli2 transcriptional activity is regulated by Shh signaling. ..
- Ching S, Vilain E. Targeted disruption of Sonic Hedgehog in the mouse adrenal leads to adrenocortical hypoplasia. Genesis. 2009;47:628-37 pubmed publisher..We show that Shh and its downstream effectors Gli1, Gli2, and Gli3 are expressed in the adrenal cortex throughout development, and that Shh is required for normal ..
- Canettieri G, Di Marcotullio L, Greco A, Coni S, Antonucci L, Infante P, et al. Histone deacetylase and Cullin3-REN(KCTD11) ubiquitin ligase interplay regulates Hedgehog signalling through Gli acetylation. Nat Cell Biol. 2010;12:132-42 pubmed publisher..We show here that Gli1 and Gli2 are acetylated proteins and that their HDAC-mediated deacetylation promotes transcriptional activation and ..
- Huang C, Miyagawa S, Matsumaru D, Parker K, Yao H. Progenitor cell expansion and organ size of mouse adrenal is regulated by sonic hedgehog. Endocrinology. 2010;151:1119-28 pubmed publisher..We discovered that cells in the adrenal capsule are positive for Ptch1 and Gli1, genes indicative of responsiveness to the stimulation of Hedgehog (Hh) ligands...
- Dennler S, Andre J, Alexaki I, Li A, Magnaldo T, Ten Dijke P, et al. Induction of sonic hedgehog mediators by transforming growth factor-beta: Smad3-dependent activation of Gli2 and Gli1 expression in vitro and in vivo. Cancer Res. 2007;67:6981-6 pubmed..Herein, we show that TGF-beta induces the expression of the Hh signaling molecules Gli1 and Gli2 in various human cell types, including normal fibroblasts and keratinocytes, as well as various cancer ..
- Warr N, Powles Glover N, Chappell A, Robson J, Norris D, Arkell R. Zic2-associated holoprosencephaly is caused by a transient defect in the organizer region during gastrulation. Hum Mol Genet. 2008;17:2986-96 pubmed publisher..The analysis provides genetic evidence that Zic2 functions during organizer formation and that the PCP develops via a multi-step process. ..
- Li C, Cha W, Luder H, Charles R, McMahon M, Mitsiadis T, et al. E-cadherin regulates the behavior and fate of epithelial stem cells and their progeny in the mouse incisor. Dev Biol. 2012;366:357-66 pubmed publisher..Together, our data indicate that E-cadherin is an important regulator of stem cells and their progeny during growth of the mouse incisor. ..
- Martinelli D, Fan C. Gas1 extends the range of Hedgehog action by facilitating its signaling. Genes Dev. 2007;21:1231-43 pubmed..Our data support a model in which GAS1 helps transform the Hedgehog protein gradient into the observed activity gradient. We propose that Gas1 is an evolutionarily novel, vertebrate-specific Hedgehog pathway regulator. ..
- Perez Balaguer A, Puelles E, Wurst W, Martinez S. Shh dependent and independent maintenance of basal midbrain. Mech Dev. 2009;126:301-13 pubmed publisher..Based on our results and recently published data, we suggest the existence of a specific genetic pathway for the specification of the mesencephalic red nucleus. Foxa2 could be the candidate gene that might control this genetic pathway. ..
- Galvin K, Ye H, Erstad D, Feddersen R, Wetmore C. Gli1 induces G2/M arrest and apoptosis in hippocampal but not tumor-derived neural stem cells. Stem Cells. 2008;26:1027-36 pubmed publisher..Whereas Gli1, Gli2, and Gli3, the primary mediators of Shh signaling, were all expressed in hippocampal neural progenitors, Shh ..
- Horner V, Caspary T. Disrupted dorsal neural tube BMP signaling in the cilia mutant Arl13b hnn stems from abnormal Shh signaling. Dev Biol. 2011;355:43-54 pubmed publisher..We demonstrate that Arl13b is required non-autonomously for BMP signaling and Wnt ligand expression, indicating that the abnormal Shh signaling environment in Arl13b(hnn) embryos indirectly causes dorsal defects. ..
- Haycraft C, Zhang Q, Song B, Jackson W, Detloff P, Serra R, et al. Intraflagellar transport is essential for endochondral bone formation. Development. 2007;134:307-16 pubmed..Overall these data provide evidence that IFT is essential for normal formation of the appendicular skeleton through disruption of multiple signaling pathways. ..
- Dakubo G, Beug S, Mazerolle C, Thurig S, Wang Y, Wallace V. Control of glial precursor cell development in the mouse optic nerve by sonic hedgehog from retinal ganglion cells. Brain Res. 2008;1228:27-42 pubmed publisher..was initiated in the optic nerves of these mutant mice; however, the expression of Hedgehog (Hh) target genes, Gli1 and Ptch1 and cell cycle genes, Ccnd1 and Cdc25b in the optic nerves were downregulated...
- Atwood S, Li M, Lee A, Tang J, Oro A. GLI activation by atypical protein kinase C ?/? regulates the growth of basal cell carcinomas. Nature. 2013;494:484-8 pubmed publisher..aPKC-?/? functions downstream of SMO to phosphorylate and activate GLI1, resulting in maximal DNA binding and transcriptional activation...
- Mazza D, Infante P, Colicchia V, Greco A, Alfonsi R, Siler M, et al. PCAF ubiquitin ligase activity inhibits Hedgehog/Gli1 signaling in p53-dependent response to genotoxic stress. Cell Death Differ. 2013;20:1688-97 pubmed publisher..Here, we show that genotoxic stress triggers a cascade of signals, culminating with inhibition of the activity of Gli1, the final transcriptional effector of Hh signaling...