Genomes and Genes
Gene Symbol: ptch1
Description: patched 1
Alias: lep, ptc1, ptc2, protein patched homolog 1, leprechaun, patched 2
- Koudijs M, den Broeder M, Keijser A, Wienholds E, Houwing S, van Rooijen E, et al. The zebrafish mutants dre, uki, and lep encode negative regulators of the hedgehog signaling pathway. PLoS Genet. 2005;1:e19 pubmed..Morphologically both mutants resembled the dre (dreumes), uki (ukkie), and lep (leprechaun) mutant class and both are shown to be additional uki alleles...
- Woods I, Talbot W. The you gene encodes an EGF-CUB protein essential for Hedgehog signaling in zebrafish. PLoS Biol. 2005;3:e66 pubmed..Our positional cloning and functional studies demonstrate that You is a novel extracellular component of the Hedgehog pathway in vertebrates. ..
- Hammond C, Schulte Merker S. Two populations of endochondral osteoblasts with differential sensitivity to Hedgehog signalling. Development. 2009;136:3991-4000 pubmed publisher..Additionally, we demonstrate that the timing of first osteoclast activity positively correlates to Hh levels in both endochondral and dermal bone. ..
- Hammond K, Whitfield T. Expression of zebrafish hip: response to Hedgehog signalling, comparison with ptc1 expression, and possible role in otic patterning. Gene Expr Patterns. 2009;9:391-6 pubmed publisher..These expression domains bear some similarity, but are not identical, to those of ptc1, a Hh receptor gene that is also positively regulated by Hh signalling...
- Guillon E, Bretaud S, Ruggiero F. Slow Muscle Precursors Lay Down a Collagen XV Matrix Fingerprint to Guide Motor Axon Navigation. J Neurosci. 2016;36:2663-76 pubmed publisher..Zebrafish and humans use common molecular cues and regulatory mechanisms for the neuromuscular system development. And as such, our study reveals COL15A1 as a candidate gene for orphan neuromuscular disorders. ..
- Cortes M, Liu S, Kwan W, Alexa K, Goessling W, North T. Accumulation of the Vitamin D Precursor Cholecalciferol Antagonizes Hedgehog Signaling to Impair Hemogenic Endothelium Formation. Stem Cell Reports. 2015;5:471-9 pubmed publisher..These findings highlight a direct impact of inefficient vitamin D synthesis on cell fate commitment and maturation in Hh-regulated tissues, which may have implications beyond hemogenic endothelium specification. ..
- Shen M, Ozacar A, Osgood M, Boeras C, Pink J, THOMAS J, et al. Heat-shock-mediated conditional regulation of hedgehog/gli signaling in zebrafish. Dev Dyn. 2013;242:539-49 pubmed publisher..These zebrafish transgenic lines provide important new experimental tools to study the embryonic and postembryonic roles of Hh signaling. ..
- Lee S, Nam T, Li W, Kim J, Yoon W, Choi Y, et al. Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome. Sci Rep. 2017;7:10222 pubmed publisher..To the best of our knowledge, this is the first report verifying the causality between COACH syndrome and TMEM67, which will further our understanding of molecular pathogenesis of the syndrome. ..
- Gray C, Bratt D, Lees J, Dacosta M, Plant K, Watson O, et al. Loss of function of parathyroid hormone receptor 1 induces Notch-dependent aortic defects during zebrafish vascular development. Arterioscler Thromb Vasc Biol. 2013;33:1257-63 pubmed publisher..These findings may underlie the aortic defect seen in Blomstrand chondrodysplasia, and reveal a link between parathyroid hormone and Notch signaling during aortic development. ..
- Yu P, Yang J, Zhang Y. Identification and characterization of two novel PTCH1 splice variants. Biochem Biophys Res Commun. 2017;487:68-75 pubmed publisherPatched-1 (PTCH1), one of the key molecules involved in the Hedgehog (HH) signaling pathway, acts as the receptor of the HH ligand. PTCH1 also inhibits the positive signal transducer Smoothened (SMO)...
- Park S, Davison J, Rhee J, Hruban R, Maitra A, Leach S. Oncogenic KRAS induces progenitor cell expansion and malignant transformation in zebrafish exocrine pancreas. Gastroenterology. 2008;134:2080-90 pubmed publisher..To examine the effects of oncogene activation within the pancreatic progenitor pool, we devised a system for real-time visualization of both normal and oncogenic KRAS-expressing pancreatic progenitor cells in living zebrafish embryos...
- Kay J, Link B, Baier H. Staggered cell-intrinsic timing of ath5 expression underlies the wave of ganglion cell neurogenesis in the zebrafish retina. Development. 2005;132:2573-85 pubmed
- Lin C, Yao E, Wang K, Nozawa Y, Shimizu H, Johnson J, et al. Regulation of Sufu activity by p66Î² and Mycbp provides new insight into vertebrate Hedgehog signaling. Genes Dev. 2014;28:2547-63 pubmed publisher..Hh pathway activation leads to dissociation of Sufu/p66Î² from Gli, enabling Mycbp to promote Gli protein activity and Hh target gene expression. These studies provide novel insight into how Sufu controls Hh signaling in the nucleus. ..
- Take uchi M, Clarke J, Wilson S. Hedgehog signalling maintains the optic stalk-retinal interface through the regulation of Vax gene activity. Development. 2003;130:955-68 pubmed..Taking all these results together, we present a model of the partitioning of the optic vesicle along its proximo-distal axis. ..
- Mich J, Chen J. Hedgehog and retinoic acid signaling cooperate to promote motoneurogenesis in zebrafish. Development. 2011;138:5113-9 pubmed publisher..We also provide evidence that RA pathway activation can modulate Gli function in a Hh ligand-independent manner. These findings support a model in which Hh and RA signaling cooperate to promote PMN cell fates in zebrafish. ..
- Wang X, Zhao Z, Müller J, Iyu A, Khng A, Guccione E, et al. Targeted inactivation and identification of targets of the Gli2a transcription factor in the zebrafish. Biol Open. 2013;2:1203-13 pubmed publisher..were significantly enriched for 192 genomic regions, some of which are associated with four known Hh target genes, ptch1, ptch2, gli1 and olig2...
- Li Y, Luo J, Mosley Y, Hedrick V, PAUL L, Chang J, et al. AMP-Activated Protein Kinase Directly Phosphorylates and Destabilizes Hedgehog Pathway Transcription Factor GLI1 in Medulloblastoma. Cell Rep. 2015;12:599-609 pubmed publisher..Mutation of these three sites into alanine prevents phosphorylation by AMPK. This leads to increased GLI1 protein stability, transcriptional activity, and oncogenic potency. ..
- Avaron F, Hoffman L, Guay D, Akimenko M. Characterization of two new zebrafish members of the hedgehog family: atypical expression of a zebrafish indian hedgehog gene in skeletal elements of both endochondral and dermal origins. Dev Dyn. 2006;235:478-89 pubmed..The presence of cartilage markers suggests that the dermal fin ray possesses an intermediate phenotype between cartilage and bone. ..
- Ochi H, Pearson B, Chuang P, Hammerschmidt M, Westerfield M. Hhip regulates zebrafish muscle development by both sequestering Hedgehog and modulating localization of Smoothened. Dev Biol. 2006;297:127-40 pubmed..These data support a model in which Hhip regulates muscle development both by sequestering Hedgehog and by modulating localization of Smoothened. ..
- Dutta S, Dietrich J, Aspöck G, Burdine R, Schier A, Westerfield M, et al. pitx3 defines an equivalence domain for lens and anterior pituitary placode. Development. 2005;132:1579-90 pubmed..During mid-somitogenesis, Hedgehog then acts on the established median placode as a necessary and sufficient signal to specify pituitary cell types. ..
- Thomas N, Koudijs M, van Eeden F, Joyner A, Yelon D. Hedgehog signaling plays a cell-autonomous role in maximizing cardiac developmental potential. Development. 2008;135:3789-99 pubmed publisher..Thus, Hh signaling plays an essential early role in defining the optimal number of cardiomyocytes, making it an attractive target for manipulation of multipotent progenitor cells. ..
- Shitasako S, Ito Y, Ito R, Ueda Y, Shimizu Y, Ohshima T. Wnt and Shh signals regulate neural stem cell proliferation and differentiation in the optic tectum of adult zebrafish. Dev Neurobiol. 2017;77:1206-1220 pubmed publisher..Our experimental data also indicate the involvement of these signaling pathways in neural differentiation from NSCs. © 2017 Wiley Periodicals, Inc. Develop Neurobiol 77: 1206-1220, 2017. ..
- Ribes V, Balaskas N, Sasai N, Cruz C, Dessaud E, Cayuso J, et al. Distinct Sonic Hedgehog signaling dynamics specify floor plate and ventral neuronal progenitors in the vertebrate neural tube. Genes Dev. 2010;24:1186-200 pubmed publisher..In addition, we provide evidence supporting a common scheme for FP specification by Shh signaling that reconciles mechanisms of FP development in teleosts and amniotes. ..
- Ackerman S, Garcia C, Piao X, Gutmann D, Monk K. The adhesion GPCR Gpr56 regulates oligodendrocyte development via interactions with GÎ±12/13 and RhoA. Nat Commun. 2015;6:6122 pubmed publisher..Finally, we show that these functions are mediated by GÎ±12/13 proteins and Rho activation. Together, our data establish Gpr56 as a regulator of oligodendrocyte development. ..
- Stenkamp D, Satterfield R, Muhunthan K, Sherpa T, Vihtelic T, Cameron D. Age-related cone abnormalities in zebrafish with genetic lesions in sonic hedgehog. Invest Ophthalmol Vis Sci. 2008;49:4631-40 pubmed publisher..The syu(+/-) retinas most likely experience progressive cone photoreceptor loss, accompanied by cone regeneration. Shh signaling may be required to maintain cone viability throughout life. ..
- Huycke T, Eames B, Kimmel C. Hedgehog-dependent proliferation drives modular growth during morphogenesis of a dermal bone. Development. 2012;139:2371-80 pubmed publisher..Conversely, hyperactive Hh signaling in ptch1 mutants causes opposite defects in proliferation and growth...
- Corallo D, Schiavinato A, Trapani V, Moro E, Argenton F, Bonaldo P. Emilin3 is required for notochord sheath integrity and interacts with Scube2 to regulate notochord-derived Hedgehog signals. Development. 2013;140:4594-601 pubmed publisher..Overall, this study reveals a new role for an EMILIN protein and reinforces the concept that structure and function of the notochord are strictly linked. ..
- Lee J, Cox B, Daly C, Lee C, Nuckels R, Tittle R, et al. An ENU mutagenesis screen in zebrafish for visual system mutants identifies a novel splice-acceptor site mutation in patched2 that results in Colobomas. Invest Ophthalmol Vis Sci. 2012;53:8214-21 pubmed publisher..We have identified 18 recessive mutations affecting development of the zebrafish visual system and we have characterized a novel splice-acceptor site mutation in patched2 that results in enhanced Hh pathway activity and colobomas. ..
- Bibliowicz J, Gross J. Ectopic proliferation contributes to retinal dysplasia in the juvenile zebrafish patched2 mutant eye. Invest Ophthalmol Vis Sci. 2011;52:8868-77 pubmed publisher..This study extends the analysis of retinal structure and homeostasis in ptc2-/- mutants to juvenile stages, to determine whether Patched 2 function is essential in the postembryonic eye.
- Jackman W, Yoo J, Stock D. Hedgehog signaling is required at multiple stages of zebrafish tooth development. BMC Dev Biol. 2010;10:119 pubmed publisher..We have identified mRNA expression of the hedgehog ligands shha and the receptors ptc1 and ptc2 during zebrafish pharyngeal tooth development...
- Teraoka H, Dong W, Okuhara Y, Iwasa H, Shindo A, Hill A, et al. Impairment of lower jaw growth in developing zebrafish exposed to 2,3,7,8-tetrachlorodibenzo-p-dioxin and reduced hedgehog expression. Aquat Toxicol. 2006;78:103-13 pubmed..the developing lower jaw expresses sonic hedgehog a (shha), sonic hedgehog b (shhb) and their receptors, patched1 (ptc1) and patched2 (ptc2), as well as the downstream transcription factors, gli1 and gli2a...
- Wang J, Cao J, Dickson A, Poss K. Epicardial regeneration is guided by cardiac outflow tract and Hedgehog signalling. Nature. 2015;522:226-230 pubmed publisher..These findings extend our understanding of tissue interactions during regeneration and have implications for mobilizing epicardial cells for therapeutic heart repair. ..
- Chassaing N, Davis E, McKnight K, Niederriter A, Causse A, David V, et al. Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. Genome Res. 2016;26:474-85 pubmed publisher..Patched 1 (PTCH1), an inhibitor of sonic hedgehog (SHH) signaling, harbored an enrichment of rare heterozygous variants in ..
- Roberson S, Halpern M. Convergence of signaling pathways underlying habenular formation and axonal outgrowth in zebrafish. Development. 2017;144:2652-2662 pubmed publisher..The results define a signaling network underlying the generation of dHb neurons and connectivity with their midbrain target. ..
- Yin A, Korzh S, Winata C, Korzh V, Gong Z. Wnt signaling is required for early development of zebrafish swimbladder. PLoS ONE. 2011;6:e18431 pubmed publisher..Our functional analysis data indicated that Wnt/?-catenin signaling is required for swimbladder early development and we also provided evidence for the crosstalk between Wnt and Hh signaling in early swimbladder development. ..
- Korzh S, Winata C, Zheng W, Yang S, Yin A, Ingham P, et al. The interaction of epithelial Ihha and mesenchymal Fgf10 in zebrafish esophageal and swimbladder development. Dev Biol. 2011;359:262-76 pubmed publisher..These findings contribute to the understanding of epithelial-mesenchymal interactions and highlight an interaction between Hh and Fgf signaling pathways during esophagus and swimbladder development. ..
- Sugimoto K, Hui S, Sheng D, Kikuchi K. Dissection of zebrafish shha function using site-specific targeting with a Cre-dependent genetic switch. elife. 2017;6: pubmed publisher..i>Zwitch will extend the utility of zebrafish in organ development and regeneration research and might be applicable to other model organisms. ..
- Ryckebusch L, Hernandez L, Wang C, Phan J, Yelon D. Tmem2 regulates cell-matrix interactions that are essential for muscle fiber attachment. Development. 2016;143:2965-72 pubmed publisher..These findings evoke possible connections between the functions of Tmem2 and the etiologies of congenital muscular dystrophies, particularly dystroglycanopathies. ..
- Tang V, COFER Z, Cui S, Sapp V, Loomes K, Matthews R. Loss of a Candidate Biliary Atresia Susceptibility Gene, add3a, Causes Biliary Developmental Defects in Zebrafish. J Pediatr Gastroenterol Nutr. 2016;63:524-530 pubmed..Our results support previous studies identifying ADD3 as a putative genetic risk factor for BA susceptibility. Our results also provide evidence that add3a may be affecting the Hh pathway, an important factor in BA pathogenesis. ..
- Felber K, Croucher P, Roehl H. Hedgehog signalling is required for perichondral osteoblast differentiation in zebrafish. Mech Dev. 2011;128:141-52 pubmed publisher..This result may point to subtle differences between the development of the skeleton in the skull and limb. ..
- Kashyap B, Frey R, Stenkamp D. Ethanol-induced microphthalmia is not mediated by changes in retinoic acid or sonic hedgehog signaling during retinal neurogenesis. Alcohol Clin Exp Res. 2011;35:1644-61 pubmed publisher..These studies suggest that FASD intervention strategies based upon augmentation of RA or Shh signaling may not prevent ethanol-induced microphthalmia. ..
- Hammond K, Baxendale S, McCauley D, Ingham P, Whitfield T. Expression of patched, prdm1 and engrailed in the lamprey somite reveals conserved responses to Hedgehog signaling. Evol Dev. 2009;11:27-40 pubmed publisher..These data suggest the presence of conserved responses to Hh signaling in lamprey somites, although the full range of effects elicited by Hh in the zebrafish somite is not recapitulated. ..
- Jiang X, Yang P, Ma L. Kinase activity-independent regulation of cyclin pathway by GRK2 is essential for zebrafish early development. Proc Natl Acad Sci U S A. 2009;106:10183-8 pubmed publisher..A physical interaction between GRK2 and cyclin B1 regulator patched homolog 1 (PTCH1), stimulated by Hedgehog (Hh), rather than GRK2-mediated phosphorylation of downstream targets, appears as the ..
- Bibliowicz J, Gross J. Expanded progenitor populations, vitreo-retinal abnormalities, and Müller glial reactivity in the zebrafish leprechaun/patched2 retina. BMC Dev Biol. 2009;9:52 pubmed publisher..To gain further insight into Hh pathway function in the retina, we have analyzed retinal development in leprechaun/patched2 mutant zebrafish...
- Hammond K, van Eeden F, Whitfield T. Repression of Hedgehog signalling is required for the acquisition of dorsolateral cell fates in the zebrafish otic vesicle. Development. 2010;137:1361-71 pubmed publisher..Even a modest increase in Hh signalling has consequences for patterning the ear. In ptc1(-/-) and ptc2(-/-) mutant embryos, in which Hh signalling is maximal throughout the embryo, the inner ear is ..
- Boyd P, Cunliffe V, Roy S, Wood J. Sonic hedgehog functions upstream of disrupted-in-schizophrenia 1 (disc1): implications for mental illness. Biol Open. 2015;4:1336-43 pubmed publisher..We therefore suggest that altered Shh signalling may be an important neurodevelopmental factor in the pathobiology of mental illness. ..
- Yamamoto T, Tsukahara T, Ishiguro T, Hagiwara H, Taira M, Takeda H. The medaka dhc2 mutant reveals conserved and distinct mechanisms of Hedgehog signaling in teleosts. BMC Dev Biol. 2015;15:9 pubmed publisher..We confirmed that Ptch1 receptor is exclusively localized on the cilium in fish as in mammals...