Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SHH (Sonic hedgehog)

Identity

HGNC (Hugo) SHH
LocusID (NCBI) 6469
Location 7q36.3
Location_base_pair Starts at 155595558 and ends at 155604967 bp from pter ( according to hg19-Feb_2009)  [Mapping]
Local_order Markers: RH69762, StSG39143
Note Sonic hedgehog (SHH) is the vertebrate orthologue of Hedeghog (Hh) a morphogen signalling molecule discovered in a mutant drosophila (fruit fly). In addition to SHH, two other distinct Hh homologues have been cloned in vertebrates, Indian Hedgehog (Ihh) and (Dhh).

DNA/RNA

Description 3 exons, all 3 coding, cDNA to mRNA is 1576 bp
Transcription coding sequence : nucleotides 152 to 1540. Two transcription start sites have been described.

Protein

Description SHH is a secreted protein synthesised as a precursor molecule of 462 amino acids (45kDa); it harbors a signal sequence of 23 amino acids. Following removal of the signal sequence, a cholestreol-mediated autocatalystic cleavage results in a NH2 and a COOH subportions (N-SHH and C-SHH, respectively 19kDa and 25 kDa). N-SHH emcompasses amino acids 24-196. C-SHH encompasses amino acids 197-463. The C-SHH moeity bears the cholesterol transferase activity. Upon processing, the cholestreol molecule is covalently transfered to the C terminus of N-SHH through a nucleophilic substitution. Post-translational processing of N-SHH is thought to be necessary to its correct spatial distribution and effects during embryonic patterning. Except its role in the autocatalytic cleavage of precursor SHH, no biological activity of C-SHH has been evidenced.
Expression SHH is the most broadly expressed member the hedgehog family. It is involved in the development of axial skeleton, notochord, spinal cord, floor plate, gut endoderm, and posterior limb (see also: Skeletal development in human: a model for the study of developmental genes .Ihh and Dhh play distinctive roles in the development of cartilage, and male germ cells respectively. In the adult, SHH plays roles in the hair follicle growth and cycle.
Localisation SHH is secreted from producing cells to reach the surface of target cells were it interacts with its receptor, the multipass transmembrane protein PATCHED.
Function SHH is implicated in segment polarisation. SHH biochemical function is the binding of PATCHED. This interaction modulates the activity of a third transmembrane protein called Smothened (SMO) apparented with G proteins-coupled receptors. SHH binding results in activation of the SHH/PATCHED pathway which eventually results in the modulation of the balance between cell proliferation and differentiation. In the absence of SHH, PATCHED acts as a constitutive repressor of the activity of SMO by posttranscriptionnal modifications. In contrast, the presence of SHH releaves PATCHED-mediated SMO inhibition and results in cell proliferation and transriptional activation of SHH target genes (PATCHED, Wingless, DPP, in Drosophila ; PATCHED, Wnt, BMPs, in vertebrates) involving Ci (Drosophila) or Gli (Gli-1, 2, 3, vertebrates) transcriptional factors. Most notably, SHH-induced SMO activation proceeds with transcription of PATCHED itself, suggesting a retroregulation loop, and hence a narrow maintenance of both free SHH and PATCHED/SMO complex concentration at the cell surface.
The important role of the SHH/PATCHED pathway in development and tissue homeostasis is attested by genetic disorders linked to specific dysregulation of this pathway. Familial mutations of PATCHED are linked to the Gorlin's or Nevoid Basal cell carcinoma syndrome. SHH mutations may result in sporadic or familial Holoproencepaly HPE (see below).
Homology Alignement of full length human SHH and human IHH cDNAs reveals 71.608 % identities (GCG, Bestfit).

Mutations

Germinal To the contrary of PATCHED, which mutation may result in familial predisposition to basal cell carcinoma and meduloblastoma, SHH mutations only result in developmental abnormalities. To date, there is actually no clear evidence that SHH mutation may be " naturally " associated with cancer. However, transgenic mice overexpressing SHH in the epidermal layer of skin develop basal cell carcinoma-like tumors.
Most SHH mutations that have been identified are associated with sporadic or familial cases of holoproencephaly (HPE, 1/133000 to 1/16000 viable birth) and Solitary Median Maxillary Central Incisor (SMMCI). Mutations are sparse over the SHH coding region. All types of mutation have been described. No evident correlation between mutation types and location, and patient phenotypes can be drawn

External links

Nomenclature
HGNC (Hugo)SHH   10848
Cards
AtlasSHHID378
Entrez_Gene (NCBI)SHH  6469  sonic hedgehog
GeneCards (Weizmann)SHH
Ensembl (Hinxton) [Gene_View]  chr7:155595558-155604967 [Contig_View]  SHH [Vega]
AceView (NCBI)SHH
Genatlas (Paris)SHH
WikiGenes6469
SOURCE (Princeton)NM_000193
Genomic and cartography
GoldenPath (UCSC)SHH  -  7q36.3   chr7:155595558-155604967 -  7q36   [Description]    (hg19-Feb_2009)
EnsemblSHH - 7q36 [CytoView]
Mapping of homologs : NCBISHH [Mapview]
OMIM120200   142945   147250   174500   269160   600725   611638   
Gene and transcription
Genbank (Entrez)AY927450 BC111925 L38518
RefSeq transcript (Entrez)NM_000193
RefSeq genomic (Entrez)AC_000068 AC_000139 NC_000007 NC_018918 NG_007504 NT_007741 NT_079596 NW_001839100 NW_004929334
Consensus coding sequences : CCDS (NCBI)SHH
Cluster EST : UnigeneHs.164537 [ NCBI ]
CGAP (NCI)Hs.164537
Alternative Splicing : Fast-db (Paris)GSHG0028745
Gene ExpressionSHH [ NCBI-GEO ]     SHH [ SEEK ]   SHH [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15465 (Uniprot)
NextProtQ15465  [Medical]
With graphics : InterProQ15465
Splice isoforms : SwissVarQ15465 (Swissvar)
Domaine pattern : Prosite (Expaxy)INTEIN_N_TER (PS50817)   
Domains : Interpro (EBI)Hedgehog    Hedgehog_sig/DD-Pept_Zn-bd_dom    Hedgehog_signaling_dom    Hint_dom    Hint_dom_C    Hint_dom_N    Intein_splice_site   
Related proteins : CluSTrQ15465
Domain families : Pfam (Sanger)HH_signal (PF01085)    Hint (PF01079)   
Domain families : Pfam (NCBI)pfam01085    pfam01079   
Domain families : Smart (EMBL)HintC (SM00305)  HintN (SM00306)  
DMDM Disease mutations6469
Blocks (Seattle)Q15465
PDB (SRS)3HO5    3M1N    3MXW   
PDB (PDBSum)3HO5    3M1N    3MXW   
PDB (IMB)3HO5    3M1N    3MXW   
PDB (RSDB)3HO5    3M1N    3MXW   
Peptide AtlasQ15465
HPRD02838
IPIIPI00017480   IPI00893003   IPI00892712   IPI00894434   
Protein Interaction databases
DIP (DOE-UCLA)Q15465
IntAct (EBI)Q15465
BioGRIDSHH
InParanoidQ15465
Interologous Interaction database Q15465
IntegromeDBSHH
STRING (EMBL)SHH
Ontologies - Pathways
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  patterning of blood vessels  vasculogenesis  metanephros development  branching involved in ureteric bud morphogenesis  cell fate specification  neural crest cell migration  heart looping  glycoprotein binding  positive regulation of neuroblast proliferation  osteoblast development  lymphoid progenitor cell differentiation  determination of left/right asymmetry in lateral mesoderm  signal transducer activity  patched binding  calcium ion binding  protein binding  glycosaminoglycan binding  extracellular space  extracellular space  nucleus  plasma membrane  proteolysis  endocytosis  apoptotic process  smoothened signaling pathway  smoothened signaling pathway  positive regulation of hh target transcription factor activity  cell-cell signaling  pattern specification process  ectoderm development  neuroblast proliferation  axon guidance  central nervous system development  ventral midline development  hindgut morphogenesis  heart development  blood coagulation  androgen metabolic process  peptidase activity  zinc ion binding  positive regulation of cell proliferation  positive regulation of cell proliferation  embryo development  embryonic pattern specification  anterior/posterior pattern specification  dorsal/ventral pattern formation  cell surface  oligodendrocyte development  striated muscle tissue development  positive regulation of skeletal muscle cell proliferation  myotube differentiation  morphogen activity  intein-mediated protein splicing  spinal cord dorsal/ventral patterning  spinal cord motor neuron differentiation  thalamus development  dorsal/ventral neural tube patterning  smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation  telencephalon regionalization  establishment of cell polarity  regulation of proteolysis  positive regulation of Wnt receptor signaling pathway  lung development  embryonic limb morphogenesis  negative regulation of cell migration  male genitalia development  prostate gland development  thyroid gland development  forebrain development  midbrain development  hindbrain development  extracellular matrix  pancreas development  hair follicle morphogenesis  negative regulation of proteasomal ubiquitin-dependent protein catabolic process  T cell differentiation in thymus  positive regulation of T cell differentiation in thymus  positive regulation of immature T cell proliferation in thymus  negative regulation of transcription elongation from RNA polymerase II promoter  protein localization to nucleus  embryonic forelimb morphogenesis  embryonic hindlimb morphogenesis  regulation of cell proliferation  negative regulation of T cell proliferation  positive regulation of protein import into nucleus  odontogenesis of dentin-containing tooth  regulation of odontogenesis  embryonic digit morphogenesis  regulation of apoptotic process  camera-type eye development  laminin-1 binding  CD4-positive or CD8-positive, alpha-beta T cell lineage commitment  positive thymic T cell selection  negative thymic T cell selection  intermediate filament organization  membrane raft  myoblast differentiation  negative regulation of cell differentiation  positive regulation of smoothened signaling pathway  positive regulation of transcription, DNA-dependent  positive regulation of transcription from RNA polymerase II promoter  positive regulation of alpha-beta T cell differentiation  negative regulation of alpha-beta T cell differentiation  cell development  thymus development  embryonic foregut morphogenesis  positive regulation of skeletal muscle tissue development  organ formation  neuron fate commitment  embryonic skeletal system development  positive regulation of oligodendrocyte differentiation  branching morphogenesis of an epithelial tube  inner ear development  formation of anatomical boundary  stem cell development  positive regulation of striated muscle cell differentiation  positive regulation of cell division  Bergmann glial cell differentiation  palate development  canonical Wnt receptor signaling pathway  limb bud formation  lung epithelium development  trachea morphogenesis  branching involved in salivary gland morphogenesis  bud outgrowth involved in lung branching  right lung development  left lung development  lung lobe morphogenesis  lung-associated mesenchyme development  primary prostatic bud elongation  prostate epithelial cord elongation  salivary gland cavitation  epithelial cell proliferation involved in salivary gland morphogenesis  regulation of prostatic bud formation  epithelial-mesenchymal signaling involved in prostate gland development  positive regulation of epithelial cell proliferation involved in prostate gland development  regulation of mesenchymal cell proliferation involved in prostate gland development  mesenchymal smoothened signaling pathway involved in prostate gland development  artery development  mesenchymal cell proliferation involved in lung development  somite development  positive regulation of sclerotome development  cellular response to lithium ion  renal system development  metanephric mesenchymal cell proliferation involved in metanephros development  multicellular structure septum development  negative regulation of canonical Wnt receptor signaling pathway  negative regulation of cholesterol efflux  regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry  regulation of protein localization to nucleus  negative regulation of ureter smooth muscle cell differentiation  positive regulation of ureter smooth muscle cell differentiation  negative regulation of kidney smooth muscle cell differentiation  positive regulation of kidney smooth muscle cell differentiation  positive regulation of mesenchymal cell proliferation involved in ureter development  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  patterning of blood vessels  vasculogenesis  metanephros development  branching involved in ureteric bud morphogenesis  cell fate specification  neural crest cell migration  heart looping  glycoprotein binding  positive regulation of neuroblast proliferation  osteoblast development  lymphoid progenitor cell differentiation  determination of left/right asymmetry in lateral mesoderm  signal transducer activity  patched binding  calcium ion binding  protein binding  glycosaminoglycan binding  extracellular space  extracellular space  nucleus  plasma membrane  proteolysis  endocytosis  apoptotic process  smoothened signaling pathway  smoothened signaling pathway  positive regulation of hh target transcription factor activity  cell-cell signaling  pattern specification process  ectoderm development  neuroblast proliferation  axon guidance  central nervous system development  ventral midline development  hindgut morphogenesis  heart development  blood coagulation  androgen metabolic process  peptidase activity  zinc ion binding  positive regulation of cell proliferation  positive regulation of cell proliferation  embryo development  embryonic pattern specification  anterior/posterior pattern specification  dorsal/ventral pattern formation  cell surface  oligodendrocyte development  striated muscle tissue development  positive regulation of skeletal muscle cell proliferation  myotube differentiation  morphogen activity  intein-mediated protein splicing  spinal cord dorsal/ventral patterning  spinal cord motor neuron differentiation  thalamus development  dorsal/ventral neural tube patterning  smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation  telencephalon regionalization  establishment of cell polarity  regulation of proteolysis  positive regulation of Wnt receptor signaling pathway  lung development  embryonic limb morphogenesis  negative regulation of cell migration  male genitalia development  prostate gland development  thyroid gland development  forebrain development  midbrain development  hindbrain development  extracellular matrix  pancreas development  hair follicle morphogenesis  negative regulation of proteasomal ubiquitin-dependent protein catabolic process  T cell differentiation in thymus  positive regulation of T cell differentiation in thymus  positive regulation of immature T cell proliferation in thymus  negative regulation of transcription elongation from RNA polymerase II promoter  protein localization to nucleus  embryonic forelimb morphogenesis  embryonic hindlimb morphogenesis  regulation of cell proliferation  negative regulation of T cell proliferation  positive regulation of protein import into nucleus  odontogenesis of dentin-containing tooth  regulation of odontogenesis  embryonic digit morphogenesis  regulation of apoptotic process  camera-type eye development  laminin-1 binding  CD4-positive or CD8-positive, alpha-beta T cell lineage commitment  positive thymic T cell selection  negative thymic T cell selection  intermediate filament organization  membrane raft  myoblast differentiation  negative regulation of cell differentiation  positive regulation of smoothened signaling pathway  positive regulation of transcription, DNA-dependent  positive regulation of transcription from RNA polymerase II promoter  positive regulation of alpha-beta T cell differentiation  negative regulation of alpha-beta T cell differentiation  cell development  thymus development  embryonic foregut morphogenesis  positive regulation of skeletal muscle tissue development  organ formation  neuron fate commitment  embryonic skeletal system development  positive regulation of oligodendrocyte differentiation  branching morphogenesis of an epithelial tube  inner ear development  formation of anatomical boundary  stem cell development  positive regulation of striated muscle cell differentiation  positive regulation of cell division  Bergmann glial cell differentiation  palate development  canonical Wnt receptor signaling pathway  limb bud formation  lung epithelium development  trachea morphogenesis  branching involved in salivary gland morphogenesis  bud outgrowth involved in lung branching  right lung development  left lung development  lung lobe morphogenesis  lung-associated mesenchyme development  primary prostatic bud elongation  prostate epithelial cord elongation  salivary gland cavitation  epithelial cell proliferation involved in salivary gland morphogenesis  regulation of prostatic bud formation  epithelial-mesenchymal signaling involved in prostate gland development  positive regulation of epithelial cell proliferation involved in prostate gland development  regulation of mesenchymal cell proliferation involved in prostate gland development  mesenchymal smoothened signaling pathway involved in prostate gland development  artery development  mesenchymal cell proliferation involved in lung development  somite development  positive regulation of sclerotome development  cellular response to lithium ion  renal system development  metanephric mesenchymal cell proliferation involved in metanephros development  multicellular structure septum development  negative regulation of canonical Wnt receptor signaling pathway  negative regulation of cholesterol efflux  regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry  regulation of protein localization to nucleus  negative regulation of ureter smooth muscle cell differentiation  positive regulation of ureter smooth muscle cell differentiation  negative regulation of kidney smooth muscle cell differentiation  positive regulation of kidney smooth muscle cell differentiation  positive regulation of mesenchymal cell proliferation involved in ureter development  
Pathways : BIOCARTASonic Hedgehog (SHH) Receptor Ptc1 Regulates cell cycle [Genes]    Sonic Hedgehog (Shh) Pathway [Genes]   
Pathways : KEGGHedgehog signaling pathway    Pathways in cancer    Basal cell carcinoma   
REACTOMESHH
Protein Interaction DatabaseSHH
Wikipedia pathwaysSHH
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)SHH
SNP (GeneSNP Utah)SHH
SNP : HGBaseSHH
Genetic variants : HAPMAPSHH
1000_GenomesSHH 
Somatic Mutations in Cancer : COSMICSHH 
CONAN: Copy Number AnalysisSHH 
Mutations and Diseases : HGMDSHH
OMIM120200    142945    147250    174500    269160    600725    611638   
GENETestsSHH
Disease Genetic AssociationSHH
Huge Navigator SHH [HugePedia]  SHH [HugeCancerGEM]
Genomic VariantsSHH  SHH [DGVbeta]
Exome VariantSHH
dbVarSHH
ClinVarSHH
snp3D : Map Gene to Disease6469
General knowledge
Homologs : HomoloGeneSHH
Homology/Alignments : Family Browser (UCSC)SHH
Phylogenetic Trees/Animal Genes : TreeFamSHH
Chemical/Protein Interactions : CTD6469
Chemical/Pharm GKB GenePA35752
Clinical trialSHH
Other databases
Other databasehttp://www.molgen.mpg.de/research/mundlos/projects_dsh.html
Other databasehttp://anatomy.med.unsw.edu.au/cbl/embryo/
Other databasehttp://www.evol.nw.ru/labs/lab38/spirov/hox_pro/shh.html
Other databasehttp://www.devbio.com/chap06/link0603.shtml
Probes
Litterature
PubMed305 Pubmed reference(s) in Entrez
CoreMineSHH
iHOPSHH

Bibliography

Sonic hedgehog mediates the polarizing activity of the ZPA.
Riddle RD, Johnson RL, Laufer E, Tabin C
Cell. 1993 ; 75 (7) : 1401-1416.
PMID 8269518
 
The hedgehog gene family in Drosophila and vertebrate development.
Fietz MJ, Concordet JP, Barbosa R, Johnson R, Krauss S, McMahon AP, Tabin C, Ingham PW
Development (Cambridge, England). Supplement. 1994 : 43-51.
PMID 7579523
 
Ectopic expression of Sonic hedgehog alters dorsal-ventral patterning of somites.
Johnson RL, Laufer E, Riddle RD, Tabin C
Cell. 1994 ; 79 (7) : 1165-1173.
PMID 8001152
 
Sonic hedgehog: a key mediator of anterior-posterior patterning of the limb and dorso-ventral patterning of axial embryonic structures.
Johnson RL, Riddle RD, Laufer E, Tabin C
Biochemical Society transactions. 1994 ; 22 (3) : 569-574.
PMID 7821639
 
Mechanisms of limb patterning.
Johnson RL, Riddle RD, Tabin CJ
Current opinion in genetics & development. 1994 ; 4 (4) : 535-542.
PMID 7950321
 
Sonic hedgehog and Fgf-4 act through a signaling cascade and feedback loop to integrate growth and patterning of the developing limb bud.
Laufer E, Nelson CE, Johnson RL, Morgan BA, Tabin C
Cell. 1994 ; 79 (6) : 993-1003.
PMID 8001146
 
Autoproteolysis in hedgehog protein biogenesis.
Lee JJ, Ekker SC, von Kessler DP, Porter JA, Sun BI, Beachy PA
Science (New York, N.Y.). 1994 ; 266 (5190) : 1528-1537.
PMID 7985023
 
Sonic hedgehog induces the differentiation of ventral forebrain neurons: a common signal for ventral patterning within the neural tube.
Ericson J, Muhr J, Placzek M, Lints T, Jessell TM, Edlund T
Cell. 1995 ; 81 (5) : 747-756.
PMID 7774016
 
A molecular pathway determining left-right asymmetry in chick embryogenesis.
Levin M, Johnson RL, Stern CD, Kuehn M, Tabin C
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PMID 7671308
 
Sonic hedgehog is an endodermal signal inducing Bmp-4 and Hox genes during induction and regionalization of the chick hindgut.
Roberts DJ, Johnson RL, Burke AC, Nelson CE, Morgan BA, Tabin C
Development (Cambridge, England). 1995 ; 121 (10) : 3163-3174.
PMID 7588051
 
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.
Belloni E, Muenke M, Roessler E, Traverso G, Siegel-Bartelt J, Frumkin A, Mitchell HF, Donis-Keller H, Helms C, Hing AV, Heng HH, Koop B, Martindale D, Rommens JM, Tsui LC, Scherer SW
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PMID 8896571
 
Dual roles for patched in sequestering and transducing Hedgehog.
Chen Y, Struhl G
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PMID 8898207
 
Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function.
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PMID 8837770
 
Sending and receiving the hedgehog signal: control by the Drosophila Gli protein Cubitus interruptus.
Domˆ‚nguez M, Brunner M, Hafen E, Basler K
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PMID 8658135
 
Two critical periods of Sonic Hedgehog signaling required for the specification of motor neuron identity.
Ericson J, Morton S, Kawakami A, Roelink H, Jessell TM
Cell. 1996 ; 87 (4) : 661-673.
PMID 8929535
 
Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome.
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PMID 8681379
 
Biochemical evidence that patched is the Hedgehog receptor.
Marigo V, Davey RA, Zuo Y, Cunningham JM, Tabin CJ
Nature. 1996 ; 384 (6605) : 176-179.
PMID 8906794
 
Sonic hedgehog differentially regulates expression of GLI and GLI3 during limb development.
Marigo V, Johnson RL, Vortkamp A, Tabin CJ
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PMID 8948590
 
Sonic hedgehog regulates patterning in early embryos.
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PMID 8971339
 
Regulation of patched by sonic hedgehog in the developing neural tube.
Marigo V, Tabin CJ
Proceedings of the National Academy of Sciences of the United States of America. 1996 ; 93 (18) : 9346-9351.
PMID 8790332
 
Evidence that Shh cooperates with a retinoic acid inducible co-factor to establish ZPA-like activity.
Ogura T, Alvarez IS, Vogel A, Rodrˆ‚guez C, Evans RM, Izpisˆ†a Belmonte JC
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PMID 8625805
 
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.
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Nature genetics. 1996 ; 14 (3) : 357-360.
PMID 8896572
 
The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog.
Stone DM, Hynes M, Armanini M, Swanson TA, Gu Q, Johnson RL, Scott MP, Pennica D, Goddard A, Phillips H, Noll M, Hooper JE, de Sauvage F, Rosenthal A
Nature. 1996 ; 384 (6605) : 129-134.
PMID 8906787
 
Mutations in the human homologue of Drosophila patched (PTCH) in basal cell carcinomas and the Gorlin syndrome: different in vivo mechanisms of PTCH inactivation.
Unden AB, Holmberg E, Lundh-Rozell B, Stˆ§hle-Bˆ§ckdahl M, Zaphiropoulos PG, Toftgˆ€rd R, Vorechovsky I
Cancer research. 1996 ; 56 (20) : 4562-4565.
PMID 8840960
 
Activation of the transcription factor Gli1 and the Sonic hedgehog signalling pathway in skin tumours.
Dahmane N, Lee J, Robins P, Heller P, Ruiz i Altaba A
Nature. 1997 ; 389 (6653) : 876-881.
PMID 9349822
 
Induction of basal cell carcinoma features in transgenic human skin expressing Sonic Hedgehog.
Fan H, Oro AE, Scott MP, Khavari PA
Nature medicine. 1997 ; 3 (7) : 788-792.
PMID 9212109
 
Altered neural cell fates and medulloblastoma in mouse patched mutants.
Goodrich LV, MilenkoviŸá L, Higgins KM, Scott MP
Science (New York, N.Y.). 1997 ; 277 (5329) : 1109-1113.
PMID 9262482
 
Basal cell carcinomas in mice overexpressing sonic hedgehog.
Oro AE, Higgins KM, Hu Z, Bonifas JM, Epstein EH Jr, Scott MP
Science (New York, N.Y.). 1997 ; 276 (5313) : 817-821.
PMID 9115210
 
Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly.
Roessler E, Belloni E, Gaudenz K, Vargas F, Scherer SW, Tsui LC, Muenke M
Human molecular genetics. 1997 ; 6 (11) : 1847-1853.
PMID 9302262
 
Human patched (PTCH) mRNA is overexpressed consistently in tumor cells of both familial and sporadic basal cell carcinoma.
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Cancer research. 1997 ; 57 (12) : 2336-2340.
PMID 9192803
 
Hedgehog signaling regulates transcription through cubitus interruptus, a sequence-specific DNA binding protein.
Von Ohlen T, Lessing D, Nusse R, Hooper JE
Proceedings of the National Academy of Sciences of the United States of America. 1997 ; 94 (6) : 2404-2409.
PMID 9122207
 
Trichoepitheliomas contain somatic mutations in the overexpressed PTCH gene: support for a gatekeeper mechanism in skin tumorigenesis.
Vorechovskˆ‡ I, Undˆ©n AB, Sandstedt B, Toftgˆ€rd R, Stˆ€hle-Bˆ§ckdahl M
Cancer research. 1997 ; 57 (21) : 4677-4681.
PMID 9354420
 
Control of dorsoventral somite patterning by Wnt-1 and beta-catenin.
Capdevila J, Tabin C, Johnson RL
Developmental biology. 1998 ; 193 (2) : 182-194.
PMID 9473323
 
Diminished Sonic hedgehog signaling and lack of floor plate differentiation in Gli2 mutant mice.
Ding Q, Motoyama J, Gasca S, Mo R, Sasaki H, Rossant J, Hui CC
Development (Cambridge, England). 1998 ; 125 (14) : 2533-2543.
PMID 9636069
 
Rhabdomyosarcomas and radiation hypersensitivity in a mouse model of Gorlin syndrome.
Hahn H, Wojnowski L, Zimmer AM, Hall J, Miller G, Zimmer A
Nature medicine. 1998 ; 4 (5) : 619-622.
PMID 9585239
 
The patched gene in development and cancer.
Ingham PW
Current opinion in genetics & development. 1998 ; 8 (1) : 88-94.
PMID 9529611
 
Promoter structure of human sonic hedgehog gene.
Kitazawa S, Kitazawa R, Tamada H, Maeda S
Biochimica et biophysica acta. 1998 ; 1443 (3) : 358-363.
PMID 9878825
 
Sonic hedgehog is essential to foregut development.
Litingtung Y, Lei L, Westphal H, Chiang C
Nature genetics. 1998 ; 20 (1) : 58-61.
PMID 9731532
 
Human developmental disorders and the Sonic hedgehog pathway.
Ming JE, Roessler E, Muenke M
Molecular medicine today. 1998 ; 4 (8) : 343-349.
PMID 9755453
 
Stage-specific effects of sonic hedgehog expression in the epidermis.
Morgan BA, Orkin RW, Noramly S, Perez A
Developmental biology. 1998 ; 201 (1) : 1-12.
PMID 9733569
 
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Contributor(s)

Written02-2002Thierry Magnaldo
"CNRS, UPR 2169, ""Instabilité Génétique et Cancer"", Institut André LWOFF, 7, rue Guy Moquet, 94801 Villejuif, France"

Citation

This paper should be referenced as such :
Magnaldo T . SHH (Sonic hedgehog). Atlas Genet Cytogenet Oncol Haematol. February 2002 .
URL : http://AtlasGeneticsOncology.org/Genes/SHHID378.html

The various updated versions of this paper are referenced and archived by INIST as such :
http://documents.irevues.inist.fr/bitstream/2042/37842/1/02-2002-SHHID378.pdf   [ Bibliographic record ]

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