For computerspilsfiguren se Sonic the Hedgehog Sonic hedgehog eller SHH er et protein som i mennesker er kodet for af genet SHH s onic h edgeh og Bade genet og proteinet findes ogsa med den alternative notering Shh SHHTilgaengelige strukturerPDBOrtologsogning PDBe RCSBListe over PDB idkoder3HO5 3M1N 3MXWIdentifikatorerAliaserSHH HHG1 HLP3 HPE3 MCOPCB5 SMMCI TPT TPTPS sonic hedgehog Sonic hedgehog ShhNC sonic hedgehog signaling moleculeExternal IDsOMIM 600725 98297 30961 SHHGenetisk relaterede sygdommeholoprosencephaly 3 Laurin Sandrow syndromeMolekylaer funktion calcium ion binding metal ion binding patched binding GO 0070122 peptidase activity zinc ion binding laminin 1 binding glycosaminoglycan binding morphogen activity hydrolase activity GO 0001948 GO 0016582 proteinbinding endopeptidase activityCellulaer komponent cytosol endoplasmic reticulum lumen membran celleoverflade membrane raft cellemembran ekstracellulaere rum ekstracellulaere region GO 0005578 ekstracellulaer matrixBiologisk proces positive regulation of skeletal muscle cell proliferation pattern specification process myotube differentiation mesenchymal cell proliferation male genitalia development bud outgrowth involved in lung branching limb bud formation T cell differentiation in thymus embryonic pattern specification positive regulation of skeletal muscle tissue development positive regulation of immature T cell proliferation in thymus positive regulation of kidney smooth muscle cell differentiation negative regulation of Wnt signaling pathway anatomical structure formation involved in morphogenesis ectoderm development hindgut morphogenesis spinal cord dorsal ventral patterning GO 0007364 GO 0007361 GO 0007358 formation of anatomical boundary oligodendrocyte differentiation trachea development prostate gland development negative regulation of transcription elongation from RNA polymerase II promoter limb development vasculogenesis primary prostatic bud elongation heart looping telencephalon regionalization odontogenesis of dentin containing tooth positive regulation of mesenchymal cell proliferation angiogenesis positive regulation of epithelial cell proliferation involved in prostate gland development positive regulation of striated muscle cell differentiation negative regulation of proteasomal ubiquitin dependent protein catabolic process embryonic digestive tract morphogenesis apoptotic signaling pathway inner ear development hair follicle morphogenesis cell population proliferation metanephros development lung epithelium development negative regulation of canonical Wnt signaling pathway regulation of proteolysis branching involved in salivary gland morphogenesis negative regulation of mesenchymal cell apoptotic process positive regulation of neuroblast proliferation dopaminergic neuron differentiation intermediate filament organization renal system development cell fate commitment GO 0009373 regulation of transcription DNA templated positive regulation of smoothened signaling pathway androgen metabolic process kidney development lung development GO 1903363 negative regulation of protein catabolic process thymus development embryonic organ development negative regulation of cell differentiation negative regulation of dopaminergic neuron differentiation embryonic digit morphogenesis negative regulation of alpha beta T cell differentiation positive regulation of sclerotome development epithelial mesenchymal cell signaling negative regulation of gene expression lymphoid progenitor cell differentiation negative thymic T cell selection GO 0060469 GO 0009371 positive regulation of transcription DNA templated positive regulation of Wnt signaling pathway ventral midline development centralnervesystemsudvikling hjertets udvikling branching involved in ureteric bud morphogenesis negative regulation of T cell proliferation embryonic limb morphogenesis positive regulation of cell differentiation branching involved in prostate gland morphogenesis positive regulation of mesenchymal cell proliferation involved in ureter development establishment of cell polarity branching involved in blood vessel morphogenesis positive regulation of cerebellar granule cell precursor proliferation neuroblast proliferation pancreas development positive regulation of protein import into nucleus smoothened signaling pathway oligodendrocyte development camera type eye development spinal cord motor neuron differentiation positive regulation of alpha beta T cell differentiation digestive tract morphogenesis hair follicle development positive regulation of oligodendrocyte differentiation roof of mouth development left lung development striated muscle tissue development positive regulation of T cell differentiation in thymus cellular response to lithium ion embryonic foregut morphogenesis GO 1903374 anatomical structure development thalamus development stem cell development smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation cell fate specification negative regulation of apoptotic process GO 1901227 negative regulation of transcription by RNA polymerase II regulation of nodal signaling pathway involved in determination of lateral mesoderm left right asymmetry proteolyse embryonic skeletal system development regulation of protein localization to nucleus odontogenesis respiratory tube development regulation of prostatic bud formation thyroid gland development negative regulation of cell migration developmental growth right lung development determination of left right asymmetry in lateral mesoderm positive thymic T cell selection mesenchymal smoothened signaling pathway involved in prostate gland development canonical Wnt signaling pathway genudtryksregulering osteoblast development negative regulation of cholesterol efflux dorsal ventral neural tube patterning regulation of epithelial cell proliferation involved in prostate gland development epithelial mesenchymal signaling involved in prostate gland development dorsal ventral pattern formation branching morphogenesis of an epithelial tube lung lobe morphogenesis embryonic forelimb morphogenesis midbrain development skin development regulation of odontogenesis regulation of mesenchymal cell proliferation involved in prostate gland development mesenchymal cell proliferation involved in lung development positive regulation of hh target transcription factor activity prostate epithelial cord elongation metanephric mesenchymal cell proliferation involved in metanephros development Endocytose lung morphogenesis cell development trachea morphogenesis epithelial cell proliferation involved in salivary gland morphogenesis cell cell signaling salivary gland cavitation hindbrain development koagulation negative regulation of kidney smooth muscle cell differentiation somite development cerebellar granule cell precursor proliferation axon guidance negative regulation of ureter smooth muscle cell differentiation positive regulation of ureter smooth muscle cell differentiation multicellular organism development animal organ formation intein mediated protein splicing determination of left right symmetry vasculature development GO 1901313 positive regulation of gene expression regulation of cell population proliferation embryonic morphogenesis neural crest cell migration polarity specification of anterior posterior axis positive regulation of cell population proliferation artery development protein localization to nucleus Bergmann glial cell differentiation forhjerneudvikling neuron fate commitment CD4 positive or CD8 positive alpha beta T cell lineage commitment striated muscle cell differentiation myoblast differentiation lung associated mesenchyme development epithelial tube branching involved in lung morphogenesis positive regulation of cell division GO 0003257 GO 0010735 GO 1901228 GO 1900622 GO 1904488 positive regulation of transcription by RNA polymerase II anterior posterior pattern specification embryonic hindlimb morphogenesis forebrain regionalization cell proliferation in external granule layer tracheoesophageal septum formation regulation of signaling receptor activitySources Amigo QuickGOFlere henvisninger til udtrykdataOrtologerArtMenneskeMus646920423ENSG00000164690ENSMUSG00000002633Q15465Q62226RefSeq mRNA NM 000193 NM 001310462NM 009170RefSeq protein NP 000184 NP 001297391NP 033196Location UCSC n an aPubMed sogningWikidataVis Rediger MenneskeVis Rediger MusOverblik over signaltransduktionen i pattedyrsceller Sonic hedgehog SHH indgar i pattedyrs signaltransduktion Det er et af tre membranproteiner i familien hedgehog de to andre er Desert hedgehog DHH og Indian hedgehog IHH SHH er den bedst studerede del af hedgehog signalvejen Den spiller en vigtig rolle i regulering af hvirveldyrs organdannelse sasom vaekst af ekstremiteter pa lemmer og organiseringen af hjernen Sonic hedgehog er et af de bedste eksempeler pa et molekyle der diffunderer sa der dannes en koncentrationsgradient med forskellige effekter pa celler i det udviklende embryo afhaengigt af koncentrationen SHH forbliver vigtig i voksne da det ogsa kontrollerer celledelingen af voksne stamceller og har implikationer for udvikling af nogle typer cancer Opdagelse og navngivningGenet for Hedgehog som betyder pindsvin pa dansk blev forst identificeret i frugtfluen Drosophila melanogaster i en serie af klassiske mutationsundersogelser naermere bestemt genetiske screeninger udfort af Christiane Nusslein Volhard og Eric Wieschaus som blev publiceret i 1980 Disse genetiske undersogelser gav dem Nobelprisen i fysiologi eller medicin i 1995 sammen med udviklingsgenetikeren Edward B Lewis der identificerede generne der kontrollerer segmentationsmonstre som kan observeres i Drosophila embryoer Embryoet af mutantfaenotypen der har mistet funktionen og som designeres hh er daekket af sma stikkende projektioner der minder om pindene pa et pindsvin Undersogelser er rettet mod at finde et aekvivalent gen til hedgehog i hvirveldyr af Philip Ingham Andrew P McMahon and Clifford Tabin som fandt tre homologe gener To af disse desert hedgehog og Indian hedgehog blev navngivet efter arter af pindsvin mens sonic hedgehog blev navngivet efter SEGA s videospilskarakter Sonic the Hedgehog Navnet blev givet af Robert Riddle som var postdoc i Tabins laboratorium efter han sa en tegneserie med Sonic som hans datter havde kobt i England Kontroverser omkring navngivningDette gen er associeret med en svaer tilstand kaldet holoprosencephali hvilket resulterer i svaere hjerne kranie og ansigtsdefekter Dette har medfort at klinikker og forskere har kritiseret navnet for at vaere upassende Det er ikke en humoristisk situation hvis patienter eller foraeldre til patienter med en alvorlig sygdom skal forklares at de eller deres barn har en mutation i deres sonic hedgehog Se ogsaPikachurin et retinalt protein opkaldt efter PikachuWikimedia Commons har flere filer relateret til Sonic hedgehogReferencer Sygdomme der er genetisk associerede med SHH vis rediger henvisninger pa wikidata Human PubMed Reference Mouse PubMed Reference Marigo V Roberts DJ Lee SM Tsukurov O Levi T Gastier JM Epstein DJ Gilbert DJ Copeland NG Seidman CE juli 1995 Cloning expression and chromosomal location of SHH and IHH two human homologues of the Drosophila segment polarity gene hedgehog Genomics 28 1 44 51 doi 10 1006 geno 1995 1104 PMID 7590746 a href wiki Skabelon Cite journal title Skabelon Cite journal cite journal a url access requires url hjaelp Nusslein Volhard C Wieschaus E oktober 1980 Mutations affecting segment number and polarity in Drosophila Nature 287 5785 795 801 doi 10 1038 287795a0 PMID 6776413 a href wiki Skabelon Cite journal title Skabelon Cite journal cite journal a url access requires url hjaelp Krauss S Concordet JP Ingham PW december 1993 A functionally conserved homolog of the Drosophila segment polarity gene hh is expressed in tissues with polarizing activity in zebrafish embryos Cell 75 7 1431 44 doi 10 1016 0092 8674 93 90628 4 PMID 8269519 a href wiki Skabelon Cite journal title Skabelon Cite journal cite journal a url access requires url hjaelp Echelard Y Epstein DJ St Jacques B Shen L Mohler J McMahon JA McMahon AP december 1993 Sonic hedgehog a member of a family of putative signaling molecules is implicated in the regulation of CNS polarity Cell 75 7 1417 30 doi 10 1016 0092 8674 93 90627 3 PMID 7916661 Riddle RD Johnson RL Laufer E Tabin C 1993 Sonic hedgehog mediates the polarizing activity of the ZPA Cell 75 7 1401 16 doi 10 1016 0092 8674 93 90626 2 PMID 8269518 Angier N 1994 01 11 Biologists Find Key Genes That Shape Patterning of Embryos Science New York Times 2007 09 06 Emus Can t Walk Backwards Ebury Press s 113 114 ISBN 978 0 09 192151 4 Tom Simonite 2005 12 15 Pokemon blocks gene name Vol 438 no 897 Nature doi 10 1038 438897a Hentet 2013 05 23 A Gene Named Sonic The New York Times 1994 01 11 Annalise Keen amp Cliff Tabin 12 april 2004 The Weekly Murmur Arkiveret fra originalen 10 november 2005 Hentet 27 januar 2018 Maclean K januar 2006 Humour of gene names lost in translation to patients Nature 439 7074 266 doi 10 1038 439266d PMID 16421543 Cohen MM juli 2006 Problems in the naming of genes Am J Med Genet A 140 13 1483 4 doi 10 1002 ajmg a 31264 PMID 16718675 Yderligere laesningDorus S Anderson JR Vallender EJ Gilbert SL Zhang L Chemnick LG Ryder OA Li W Lahn BT 2006 Sonic Hedgehog a key development gene experienced intensified molecular evolution in primates Human Molecular Genetics 15 13 2031 7 doi 10 1093 hmg ddl123 PMID 16687440 Gilbert Scott F 2000 Developmental biology 6th udgave Sunderland Mass Sinauer Associates ISBN 0 87893 243 7 Kim J Kim P Hui CC 2001 The VACTERL association lessons from the Sonic hedgehog pathway Clinical Genetics 59 5 306 15 doi 10 1034 j 1399 0004 2001 590503 x PMID 11359461 Morton JP Lewis BC 2007 SHH signaling and pancreatic cancer implications for therapy Cell Cycle 6 13 1553 7 doi 10 4161 cc 6 13 4467 PMID 17611415 Mullor JL Sanchez P Ruiz i Altaba A 2003 Pathways and consequences Hedgehog signaling in human disease Trends Cell Biol 12 12 562 9 doi 10 1016 S0962 8924 02 02405 4 PMID 12495844 Nanni L Ming JE Du Y Hall RK Aldred M Bankier A Muenke M 2001 SHH mutation is associated with solitary median maxillary central incisor a study of 13 patients and review of the literature American Journal of Medical Genetics 102 1 1 10 doi 10 1002 1096 8628 20010722 102 13 0 CO 2 U PMID 11471164 Williams JA 2006 Hedgehog and spinal cord injury Expert Opinion on Therapeutic Targets 9 6 1137 45 doi 10 1517 14728222 9 6 1137 PMID 16300466