Database for Annotation, Visualization and Integrated Discovery 2.1
National Institute of Allergy and Infectious Disease
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patched 1(PTCH1) patched 1(PTCH1) Related Genes Homo sapiens
CYTOBAND 9q22.3,
GENERIF_SUMMARY No germline PTCH mutations have been identified in 8 subjects with Birt-Hogg-Dube syndrome, suggesting that PTCH should be excluded as a candidate gene for BHD., Mutations for basal cell carcinoma (BCC), were screened in 15 cases of sporadic BCCs that developed in sun-exposed skin region in a Korean population, results suggest that the Ptc tumour suppressor functions normally as a transmembrane molecular transporter, which acts indirectly to inhibit Smo activity, Patched expression in human astrocytic tumors inversely correlates with histological malignancy, odontogenic keratocysts arise with heterozygous mutations of the gene, The patched polymorphism Pro1315Leu (C3944T) may modulate the association between use of oral contraceptives and breast cancer risk, Nineteen novel mutations and five new polymorphisms were identified, mutations are probably related not only to basal cell nevus-associated odontogenic keratocysts but also to sporadic odontgenic keratocysts, thirteen novel mutations identified in the mutational screening of nevoid basal cell carcinoma syndrome patients in Italy, cDNA microarray analysis performed on cell lines derived from ovarian dermoid cysts did not show any significant alteration in the expression of the analyzed target genes of PTCH signaling., Papillary carcinomas with high RET/PTC1 expression showed an association trend for large tumor size., No phenotype-genotype relationships were found in the Japanese nevoid basal cell carcinoma syndrome patients, Data show that in both human and mouse a novel Patched homolog 1 first exon (1C) is expressed., ptc1 mutations and truncation are responsible for the majority of basal cell carcinoma (BCC) cases., 9 new mutations wew found, Seven isoforms of human PTCH mRNA were identified., Elevated expression of hedgehog target genes human patched gene 1 (PTCH1) or Gli1 occurs in 63 of the 99 primary gastric cancers., analysis of missense mutations in the PTCH gene which may be responsible for Nevoid Basal Cell Carcinoma Syndrome, possible relationship between the CGG8 allele in PTCH1 and the risk for ameloblastoma, Isoforms - novel exon, exon 12b, was specifically expressed in the brain and heart, especially in the cerebellum. Also, disease-associated aberrant splicings found in two patients with nevoid basal cell carcinoma syndrome., Patched-expressing cells have been identified among endodermally lineage-restricted, murine embryonic stem cells as well as in livers of fetal and adult Ptc-lacZ mice., analysis of PTCH mutations in nevoid basal cell carcinoma syndrome [review], Our data show that MC1R and PTCH variants are associated with basal cell carcinoma (BCC) risk in the French population., Germline mutations on PTCH can cause isolated odontogenic cyst, and this PTCH gene responsible for nevoid basal cell carcinoma syndrome plays an important role in the formation of odontogenic cyst., alteration of both p53 and PTCH genes is likely to play a role in radiation-induced basal cell carcinogenesis, novel insertion mutation in exon 6 of the PTCH gene was identified in a Korean family with naevoid basal cell carcinoma syndrome, aberrant expressions of PTCH and Smo were common in pancreatic carcinoma tissues & were associated with low-level differentiation of tumor tissue & hyperglycemia; this indicated that these molecules played a fundamental role in pancreas tumorigenesis, the upstream part of the Hedgehog pathway involving Hedgehog interaction with Patched, regulation of Smoothened by Patched, and Smoothened enrichment at the plasma membrane is highly conserved between Drosophila and humans, defects are associated with the pathogenesis of syndromic as well as a subset of non-syndromic keratocysts, Patched-1 containing exon 12b is a dominant negative isoform and is expressed in medulloblastomas, Mutation screening identified a novel nonsense mutation in PTCH (c.1136C > G; p.Ser383X), the gene associated with Gorlin syndrome., Reduced expression of PTCH is associated with breast cancer, Shh-Ptch1-Gli1 signaling pathway may play a role in the progression of colorectal tumor., Patched gene is epigenetically regulated in ovarian dermoids and fibromas, but not in basocellular carcinomas., PTCH mutations are not mainly involved in the pathogenesis of sporadic trichoblastomas, a (UV-) mutated PTCH gene is important for sporadic BCC formation independent of clinical phenotype and the IVS16-80G/C and/or IVS17+21G/A SNP site might be important for tumorigenesis in certain BCC patients, A patient with nevoid basal-cell carcinoma syndrome and West syndrome. The patient had a heterozygous mutation (insertion of TGGC) in the PTCH gene., prevalence of PTCH and p53 mutations for basal cell carcinoma is 63% and 46% in psoralen /UVA associated cancer, A novel PTCH1 mutation in a patient of nevoid basal cell carcinoma syndrome., there was no evidence of methylation in the PTCH1-1B promoter in the MB cases examined, nor was there methylation in the control cerebellum samples., one 3-bp deletion in PTCH gene was the cause of nevoid basal cell carcinoma in a Chinese family through affecting the conformation and function of PTCH protein., Frequent germline PTCH mutations detected in this series provide further evidence for the crucial role of PTCH in the pathogenesis of nevoid basal cell carcinoma syndrome in Chinese., A novel germ-line mutation of the PTCH1 gene in a Japanese family with nevoid basal cell carcinoma syndrome is reported., mutations are frequent in PTCH1 in sporadic and nevoid basal cell carcinoma syndrome-associated keratocystic odontogenic tumors, PTCH is involved in early stage tumor development and the Hh pathway in Chinese HCC is activated by ligand expression but not by mutation., Constitutive activation of the hedgehog signaling pathway in chondrosarcoma is rarely caused by PTCH-1 mutation., The physiological impact of constitutive heterozygous PATCHED mutations in primary human keratinocytes; mechanism of haploinsufficiency leading to cancer proneness., Hh target genes GLI1 and PTCH1 are not expressed in lesional psoriatic skin, azathioprine exposure may be associated with PTCH mutations, Differential association of alterations in FANCC and PTCH1 with that of PHF2, XPA and two breast cancer susceptibility genes (BRCA1/BRCA2) in the two age groups suggests differences in their molecular pathogenesis., study reports three cases of naevoid basal cell carcinoma syndrome in a family with two mutations and one single nucleotide polymorphism in PTCH1, 2 novel PTCH1 mutations (3146A-->T, 1686C-->T) were identified in all 5 affected members. The mutation, 3146A-->T in exon 17, is predicted to lead to different PTCH protein translations. 1686C-->T mutation in exon 11 is a nonsense mutation., survival analysis revealed that Ptc expression in grade 2 and PDX-1 expression in grade 3 carcinomas are independent survival factors., Ptc1 loss of function is complete, but achieved at the protein level in cerebellar tumor development, data indicate that the PTCH1(+/-) genotype of healthy NBCCS fibroblasts results in phenotypic traits highly reminiscent of those of BCC associated fibroblasts, a clue to the yet mysterious proneness to non photo-exposed BCCs in NBCCS patients, p16 and PTCH have roles in pathogenesis of melanoma and basal cell carcinoma, results suggest that PTCH1 mutations, particularly those causing protein truncations, are associated with a subgroup of OKCs showing increased proliferative activity and thus may relate to a phenotype of higher recurrent tendency., We report a case of medulloblastoma associated with novel PTCH mutation as primary manifestation of Gorlin syndrome., Data suggest that in the absence of its ligand Shh the dependence receptor Patched serves as the anchor for a caspase-activating complex that includes DRAL, and caspase-9., This study found that the majority of all types of lesions, ranging from the benign but locally aggressive ameloblastoma through the varieties of odontogenic keratocysts, expressed PTCH throughout the width of the epithelial component., PTCH genes were analyzed by direct sequencing of the PCR product from DNA, and previously unreported mutations were identified in Nevoid basal cell carcinoma syndrome patients., These data indicated that all the six families who were diagnosed with Basal cell nevus syndrome (BCNS) had mutations in the PTCH1 gene and that a single copy of a PTCH1 mutation causes BCNS., Studies suggest that Hh binding to Ptc leads to the de-repression of the GPCR-related protein Smo., Our detection rate of PTCH1 mutations, i.e., 86%, was much higher than those previously reported from other countries. The differences may be derived either from ethnicity or the detection methods., Data show that methylation of PTCH1a transciptional regulation region is present in a subset of gastric cancers and correlated negatively with PTCH1 expression., The mutation of 3146A-->T may be the cause of high expression of GLI and permit SMO to transmit signal to the nucleus through SHH/PTCH/SMO pathway., Screening for BRAF, RET, KRAS, NRAS, and HRAS mutations, as well as RET-PTC1 and RET-PTC3 rearrangements, was performed on cases of Hashimoto thyroiditis with a dominant nodule, PTCH1 is preferentially expressed by human bulge cells, compared to differentiated hair follicle keratinocytes, PTCH1 gene alternation may play a significant role in the pathogenesis of nevoid basal cell carcinoma syndrome and the related sporadic tumors., results do not support the hypothesis that common polymorphisms in the proximal 5' regulatory region of the PTCH1 gene could represent an important risk factor for basal cell carcinoma after organ transplantation., These results are the first to implicate the Sonic hedgehog pathway in the pathogenesis of the calcifying epithelial odontogenic tumor through sequencing., Derangements in the hedgehog signalling pathway in the form of mutations in PTCH1 cause Gorlin syndrome, and it is now evident that derangements in this and other members of this pathway are involved in sporadic basal cell carcinoma development., proteins of the SHH signaling pathway are predominantly located within the epithelial components of GOCs and DCs. SHH signaling pathway may play a role in epithelial lining formation., PTCH germ line mutation is associated with Gorlin syndrome associated with small bowel carcinoma., 4 novel and 2 known mutations were identified in 2 sporadic and 3 syndromic cases, 2 of which being germline mutations (c.2179delT, c.2824delC) and 4 somatic mutations (c.3162dupG, c.1362-1374dup, c.1012 C>T, c.403C>T)., These data confirm the role of Ptch1 as a negative regulator of epidermal progenitor turnover and that Ptch1 plays a role in the differentiation of the hair follicle, The expression level of SMO in NPC is generally high, but the expression level of PTCH-1 was relatively low., sonic hedgehog-GLI1 downstream target genes PTCH1, Cyclin D2, Plakoglobin, PAX6 and NKX2.2 are differently regulated in medulloblastoma and astrocytoma, High PTCH1 is associated with chemoradiotherapy sensitivity in esophageal squamous cell carcinomas., Activation of the Hh signaling pathway in neuroblastoma & ganglioneuroblastoma may be associated with the differentiation. 79% of the cases were positive for Ptch1 expression., There was loss in at least 1 locus in 5/7 KOT and 4/7 OOC. present finding demonstrates despite existence of clinical, morphological, immunohistochemical, biological behavior differences between OOC and KOT, both have similar genetic alterations at 9q., both PTCH1 and SUFU play a key role in the sonic hedgehog signalling pathway, PTCH1 does not make an appreciable contribution to non-familial sporadic medulloblastoma., A novel nonsense mutation in the PTCH gene was found. We report the occurrence of epiretinal membranes and the persistence of myelinated nerve fibers., Methylation of the PTCH promoter is not a high-prevalence feature of squamous cell cervical cancer or ovarian cancer., analyzed 32 nevoid basal cell carcinoma syndrome families and identified entire deletions of PTCH1 in 5 families, Our results did not reveal any clearly deleterious inactivating PTCH1 mutations in our collection of colorectal serrated adenocarcinomas, Ptch1 overexpression underlies derangement of the sonic hedgehog pathway in trisomic neural precursor cells with consequent proliferation impairment, Five novel PTCH1 mutations induce truncation of the PTCH1 protein or could induce nonsense-mediated mRNA decay., Neither CYLD nor PTCH germline mutations were found in the 5 patients with Multiple familial trichoepitheliomas, High patched protein expression is associated with colon cancer., mutation causes one highly conserved glycine residue transit to arginine on the 10th transmembrane region of PTCH protein., the 897G-A mutation in the PTCH1 gene is the cause of nevoid basal cell carcinoma syndrome in the Chinese family and works by altering the protein activity of PTCH1, which then activates the Shh/Gli signaling pathway., The PTCH1 pathway activity in ERMS tumors did not correlate with a unique clinical phenotype., Haploinsufficiency of PTCH may be contributory to the cranial and thoracic neural tube defects in a family with Gorlin syndrome by allowing other genetic or environmental factors to be expressed., Mutations found in the PTCH1 gene and neighboring repetitive sequences may have contributed to the development of the studied basal cell carcinomas., deregulations of the FANCC-mediated DNA damage repair pathway and the PTCH1-associated sonic hedgehog pathway are associated with the development of early dysplastic head and neck lesions., High PTCH1 protein is associated with bladder cancer progression., 2 genes of loss, CDKN2B and PTCH1, are associated with poor overall survival in patients with squamous cell carcinoma of the lung and may be useful as prognostic markers, Patched may contribute to cholesterol efflux from cells, we found a novel missense mutation in exon 8 of the PTCH1 gene, which is located on the transmembrane domain of the Patched receptor., in both mouse and human pancreas, expression of the inhibitory Ptch1 receptor occurs in delta cells, Brooke-Spiegler syndrome, No somatic mutations were identified in the PTCH1, MLL2, and MLL3 genes in our cohort of hepatoblastoma samples, LOH of PTCH1 gene is often found in a series of different tumors, for example basal cell carcinoma (BCC) and ovarian carcinoma (OC, our findings suggest that loss of heterozygosity in the PTCH region may be relevant to the pathogenesis of ameloblastoma but may target a different gene than PTCH., Mutations and LOH in PTCH1 were also highly prevalent in Chinese sporadic BCCs. However, UV light plays a less role in causing these mutations, suggesting other potential mechanisms in the development of sporadic BCC in Chinese patients, Enhanced PTCH1 expression and activation of the sonic hedgehog pathway are involved in brainstem glioma., results indicated that miR-212 was involved in tumorigenesis, and the oncogenic activity of miR-212 in non-small cell lung cancer cells was due, in part, to suppression of PTCH1, Expressions of Shh, Ptch1 and Gli1 were significantly correlated with stage, lymph node metastasis, venous invasion, hepatic infiltration, survival rate, and lymphatic invasion in gallbladder carcinoma., PTCH1 expression in the sonic hedgehog pathway was possibly involved in gastric cancer progression and could be an indicator for the prognosis of the disease., Sonic Hedgehog (Shh) protein stimulates cell proliferation and induces internalization of the Patched (Ptch) protein, PTCH1 germline mutation is associated with nevoid basal cell carcinoma syndrome associated with meningioma., High PTCH1 mRNA expression is associated with recurrence of hepatocellular carcinoma., Aberrant methylation of the PTCH1 promoter may be an early, initiating event of colon carcinogenesis., novel mutation in patients with keratocystic odontogenic tumors screened for nevoid basal cell carcinoma (NBCC) syndrome, These findings strongly suggest that patients with constitutional 9q22.3 microdeletion have an increased risk of WT, and that PTCH1 have a role in the pathogenesis of nephroblastomas., PTCH1 gene polymorphisms is associated with ovarian tumors., All Keratocystic odontogenic tumors with PTCH1 mutations presented the criteria of pathological aggressiveness, SMO and/or PTCH1 mutations are present at low frequency in different histologic subtypes of gastric tumors and these do not appear to be driver mutations., PTCH1 overexpression was an independent prognostic factor for survival and SMO overexpression which was found in 12.0 % of GC patients., The data demonstrated that loss of expression of HHIP and PTCH is associated with the methylation of gene promoters, Data indicate that Shh, Ptch1, Gli1, and Gli2 mRNA expressions were markedly increased in intrahepatic cholangiocellular carcinoma (ICC)., Increased risk for spina bifida was observed with the G allele of c.3944C>T and the T allele of c.1729trade mark2350G>A in female Chinese patients., These results suggest that pathological low flow stimulates smooth muscle cell growth in vitro and vascular remodeling in vivo via Ptc-1 regulation of Notch signaling., Our studies identified functionally relevant aberrations at the PTCH1 locus in three of five fetal rhabdomyomas tumours surveyed., Data indicate that the Shh signaling transduction is facilitated by binding of Shh to its receptor protein, Ptch, and show the complex structure of Shh-Hhip., Data indicate a significant role of hedgehog receptor PTCH1 and SUFU in the pathogenesis of keratocystic odontogenic tumor (KCOT)., Variations of PTCH1 gene is associated with Hirschsprung disease., a noncoding mutation in PTCH-1 may predispose to basal cell carcinoma (case report), Mutations in the PTCH1 transmembrane domain 2 are closely related to the development of sporadic keratocystic odontogenic tumors., Case Report, Authors report a loss-of-function mutation of PTCH1, a tumor suppressor in the Hh pathway, in a colorectal cancer that exhibits transcriptional upregulation of the downstream Hh gene GLI1., Protein profiles in the fibroblast conditioned media revealed statistically significant differences between two different types (missense versus nonsense) of PTCH1 mutations., Germline PTCH1 mutations are linked to nevoid basal cell carcinoma syndrome., Serrated colorectal carcinoma as proposed to arise from serrated adenoma is characterized by down regulation of PTCH., Two altered PTCH1 transcripts were identified in patients with Gorlin syndrome, Variants of the PTCH1 and COL17A1 genes may contribute to the development of Ossification of the posterior longitudinal ligament., High Ptch-1 expression is associated with lymph node metastasis in non-small cell lung cancers., The expression of PTCH1 in 50 human cholangiocellular carcinoma, cholangiocarcinoma cell line, and vivo growing tumors was measured by quantitative PCR, Results found that PTCH1 is highly expressed in hepatocellular carcinoma tissues., our data suggest that the non-canonical Hh pathway mediated through ptch1 and cyclin B1 is involved in the pathogenesis of NBCCS-associated KCOTs., germline single base deletion of PTCH1 (c.2613 delC) is a first hit and the LOH of the wild-type allele is a second hit, implying that all 16 BCCs detected in these NBCCS sisters fit the standard two-hit model, MiR-212 may facilitate pancreatic ductal adenocarcinoma progression and metastasis through targeting PTCH1., Ptc1-Gli1 signaling deregulation resulting in abnormal loss of glial precursor cells may contribute to a cognition decline in Alzheimer's disease brains., The C-terminal domain of PTCH1 interacts with and is ubiquitylated on K1413 by the E3 ubiquitin-protein ligase Itchy homolog Itch., Results show that XIAP binds to the C terminus of Ptch1 and mediates the death-dependent function of Ptch1., our data suggests that activation of the Hedgehog pathway due to PTCH1 inactivation along with HPV infection is important in cervical cancer development., Frequent inactivating PTCH1 mutations were found in oesophageal basaloid squamous cell carcinoma. These changes activate the Hedgehog pathway, which has been shown to cross-talk with the Wnt signalling pathway., suggest childhood brain magnetic resonance imaging surveillance is justified in SUFU-related, but not PTCH1-related, Gorlin syndrome, results suggest that the PTCH1 gene plays a significant role in the pathogenesis of sporadic KCOTs, which is comparable to that observed in NBCCS patients, Data indicate microRNA-9 (miR-9) as the target of patched protein 1 (PTCH1) in resistant glioblastoma multiforme (GBM) cells with concomitant activation of sonic hedgehog SHH signaling., In this study we presented two cases with Gorlin syndrome. Molecular analysis of the patients showed two frameshift and one nonsense mutations in PTCH1 gene (two germline and one somatic), all of them novel., PTCH1 expression is regulated by different 5' untranslated region cis-regulatory elements., results indicate that whereas ciliary localization of Patched is essential for suppression of Smoothened activation, the primary event enabling Smoothened activation, Calcitriol represents a possible endogenous transmitter of Ptch/Smo interaction., Melittin induces PTCH1 expression by down-regulating MeCP2 and blocking Shh signaling in human hepatocellular carcinoma cells., The results do not support our hypothesis that common germline genetic variants in the PTCH1 genes is associated with the risk of developing medulloblastoma., A genome-wide association study of bone mineral density (BMD) found a new BMD locus that harbors the PTCH1 gene, that associates with reduced spine BMD and the RSPO3 associates with increased spine BMD., Increased SHH, PTCH, and GLI1 protein correlated positively with tumor grade, tumor depth and lymph node metastasis in Peutz-Jeghers syndrome., The Cytoskeletal Protein Zyxin Interacts with the Hedgehog Receptor Patched, after 20 years of the molecular and epidemiological research of RET/PTC in thyroid radiogenic carcinomas the comprehensive evidence of the dose-effect dependence existence indicating a real relationship between the studied parameters and radiation factor,
OMIM_DISEASE Basal cell nevus syndrome, Basal cell carcinoma, somatic, Holoprosencephaly-7,
SP_COMMENT developmental stage:In the embryo, found in all major target tissues of sonic hedgehog, such as the ventral neural tube, somites, and tissues surrounding the zone of polarizing activity of the limb bud., disease:Defects in PTCH1 are a cause of sporadic basal cell carcinoma (BCC) [MIM:605462]., disease:Defects in PTCH1 are probably the cause of basal cell nevus syndrome (BCNS) [MIM:109400]; also known as Gorlin syndrome or Gorlin-Goltz syndrome. BCNS is an autosomal dominant disease characterized by nevoid basal cell carcinomas (NBCCS) and developmental abnormalities such as rib and craniofacial alterations, polydactyly, syndactyly, and spina bifida. In addition, the patients suffer from a multitude of tumors like basal cell carcinomas (BCC), fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas. PTCH1 is also mutated in squamous cell carcinoma (SCC). Could also be associated with large body size observed in BCNS patients., disease:Defects in PTCH1 are the cause of holoprosencephaly type 7 (HPE7) [MIM:610828]. Holoprosencephaly (HPE) [MIM:236100] is the most common structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability., function:Acts as a receptor for sonic hedgehog (SHH), indian hedgehog (IHH) and desert hedgehog (DHH). Associates with the smoothened protein (SMO) to transduce the hedgehog's proteins signal. Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis., PTM:Glycosylation is necessary for SHH binding., similarity:Belongs to the patched family., similarity:Contains 1 SSD (sterol-sensing) domain., subunit:Interacts with SNX17., tissue specificity:In the adult, expressed in brain, lung, liver, heart, placenta, skeletal muscle, pancreas and kidney. Expressed in tumor cells but not in normal skin.,