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Mutations of this gene have been associated with [[nevoid basal cell carcinoma syndrome]], [[esophageal squamous cell carcinoma]], [[trichoepitheliomas]], [[transitional cell carcinomas of the bladder]], as well as [[holoprosencephaly]]. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences and biological validity cannot be determined currently.<ref name="entrez"/>
Mutations of this gene have been associated with [[nevoid basal cell carcinoma syndrome]], [[esophageal squamous cell carcinoma]], [[trichoepitheliomas]], [[transitional cell carcinomas of the bladder]], as well as [[holoprosencephaly]]. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences and biological validity cannot be determined currently.<ref name="entrez"/>


Mutatations in ''PTCH1'' cause Gorlin syndrome often with a midline cleft lip<ref name="pmid21331089">{{cite journal | author = Dixon MJ, Marazita ML, Beaty TH, Murray JC | title = Cleft lip and palate: understanding genetic and environmental influences | journal = Nat. Rev. Genet. | volume = 12 | issue = 3 | pages = 167–78 | year = 2011 | month = March | pmid = 21331089 | pmc = 3086810 | doi = 10.1038/nrg2933 }}</ref> and mutations have also been found in [[holoprosencephaly]] patients.<ref name="pmid11941477">{{cite journal |author=Ming JE, Kaupas ME, Roessler E, ''et al.'' |title=Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly |journal=Hum. Genet. |volume=110 |issue=4 |pages=297–301 |year=2002 |month=April |pmid=11941477 |doi=10.1007/s00439-002-0695-5 |url=}}</ref><ref name="pmid17096318">{{cite journal |author=Rahimov F, Ribeiro LA, de Miranda E, Richieri-Costa A, Murray JC |title=GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum? |journal=Am. J. Med. Genet. A |volume=140 |issue=23 |pages=2571–6 |year=2006 |month=December |pmid=17096318 |doi=10.1002/ajmg.a.31370 |url=}}</ref><ref name="pmid20583177">{{cite journal |author=Ribeiro LA, Quiezi RG, Nascimento A, Bertolacini CP, Richieri-Costa A |title=Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients |journal=Am. J. Med. Genet. A |volume=152A |issue=7 |pages=1688–94 |year=2010 |month=July |pmid=20583177 |doi=10.1002/ajmg.a.33466 |url=}}</ref> Some of these patients present [[cleft lip and palate]] among the [[holoprosencephaly]] features and missense variants in ''PTCH1'' were also found in a sequencing screening of non syndromic [[cleft lip and palate]] patients.<ref name="pmid16405370">{{cite journal |author=Mansilla MA, Cooper ME, Goldstein T, ''et al.'' |title=Contributions of PTCH gene variants to isolated cleft lip and palate |journal=Cleft Palate Craniofac. J. |volume=43 |issue=1 |pages=21–9 |year=2006 |month=January |pmid=16405370 |pmc=2151847 |doi=10.1597/04-169R.1 |url=}}</ref> In addition association between SNPs in or near ''PTCH1'' have been found to be associated with non syndromic [[cleft lip and palate]].<ref name="pmid16405370" /><ref name="pmid19779022">{{cite journal |author=Moreno LM, Mansilla MA, Bullard SA, ''et al.'' |title=FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate |journal=Hum. Mol. Genet. |volume=18 |issue=24 |pages=4879–96 |year=2009 |month=December |pmid=19779022 |pmc=2778374 |doi=10.1093/hmg/ddp444 |url=}}</ref> Mutations in ''PTCH1'' are also associated with [[medulloblastoma]]<ref>{{cite journal|last=Jones|first=David T. W.|coauthors=Jäger, Natalie; Kool, Marcel; Zichner, Thomas; Hutter, Barbara; Sultan, Marc; Cho, Yoon-Jae; Pugh, Trevor J.; Hovestadt, Volker; Stütz, Adrian M.; Rausch, Tobias; Warnatz, Hans-Jörg; Ryzhova, Marina; Bender, Sebastian; Sturm, Dominik; Pleier, Sabrina; Cin, Huriye; Pfaff, Elke; Sieber, Laura; Wittmann, Andrea; Remke, Marc; Witt, Hendrik; Hutter, Sonja; Tzaridis, Theophilos; Weischenfeldt, Joachim; Raeder, Benjamin; Avci, Meryem; Amstislavskiy, Vyacheslav; Zapatka, Marc; Weber, Ursula D.; Wang, Qi; Lasitschka, Bärbel; Bartholomae, Cynthia C.; Schmidt, Manfred; von Kalle, Christof; Ast, Volker; Lawerenz, Chris; Eils, Jürgen; Kabbe, Rolf; Benes, Vladimir; van Sluis, Peter; Koster, Jan; Volckmann, Richard; Shih, David; Betts, Matthew J.; Russell, Robert B.; Coco, Simona; Paolo Tonini, Gian; Schüller, Ulrich; Hans, Volkmar; Graf, Norbert; Kim, Yoo-Jin; Monoranu, Camelia; Roggendorf, Wolfgang; Unterberg, Andreas; Herold-Mende, Christel; Milde, Till; Kulozik, Andreas E.; von Deimling, Andreas; Witt, Olaf; Maass, Eberhard; Rössler, Jochen; Ebinger, Martin; Schuhmann, Martin U.; Frühwald, Michael C.; Hasselblatt, Martin; Jabado, Nada; Rutkowski, Stefan; von Bueren, André O.; Williamson, Dan; Clifford, Steven C.; McCabe, Martin G.; Peter Collins, V.; Wolf, Stephan; Wiemann, Stefan; Lehrach, Hans; Brors, Benedikt; Scheurlen, Wolfram; Felsberg, Jörg; Reifenberger, Guido; Northcott, Paul A.; Taylor, Michael D.; Meyerson, Matthew; Pomeroy, Scott L.; Yaspo, Marie-Laure; Korbel, Jan O.; Korshunov, Andrey; Eils, Roland; Pfister, Stefan M.; Lichter, Peter|title=Dissecting the genomic complexity underlying medulloblastoma|journal=Nature|doi=10.1038/nature11284}}</ref>.
Mutatations in ''PTCH1'' cause Gorlin syndrome often with a midline cleft lip<ref name="pmid21331089">{{cite journal | author = Dixon MJ, Marazita ML, Beaty TH, Murray JC | title = Cleft lip and palate: understanding genetic and environmental influences | journal = Nat. Rev. Genet. | volume = 12 | issue = 3 | pages = 167–78 | year = 2011 | month = March | pmid = 21331089 | pmc = 3086810 | doi = 10.1038/nrg2933 }}</ref> and mutations have also been found in [[holoprosencephaly]] patients.<ref name="pmid11941477">{{cite journal |author=Ming JE, Kaupas ME, Roessler E, ''et al.'' |title=Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly |journal=Hum. Genet. |volume=110 |issue=4 |pages=297–301 |year=2002 |month=April |pmid=11941477 |doi=10.1007/s00439-002-0695-5 |url=}}</ref><ref name="pmid17096318">{{cite journal |author=Rahimov F, Ribeiro LA, de Miranda E, Richieri-Costa A, Murray JC |title=GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum? |journal=Am. J. Med. Genet. A |volume=140 |issue=23 |pages=2571–6 |year=2006 |month=December |pmid=17096318 |doi=10.1002/ajmg.a.31370 |url=}}</ref><ref name="pmid20583177">{{cite journal |author=Ribeiro LA, Quiezi RG, Nascimento A, Bertolacini CP, Richieri-Costa A |title=Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients |journal=Am. J. Med. Genet. A |volume=152A |issue=7 |pages=1688–94 |year=2010 |month=July |pmid=20583177 |doi=10.1002/ajmg.a.33466 |url=}}</ref> Some of these patients present [[cleft lip and palate]] among the [[holoprosencephaly]] features and missense variants in ''PTCH1'' were also found in a sequencing screening of non syndromic [[cleft lip and palate]] patients.<ref name="pmid16405370">{{cite journal |author=Mansilla MA, Cooper ME, Goldstein T, ''et al.'' |title=Contributions of PTCH gene variants to isolated cleft lip and palate |journal=Cleft Palate Craniofac. J. |volume=43 |issue=1 |pages=21–9 |year=2006 |month=January |pmid=16405370 |pmc=2151847 |doi=10.1597/04-169R.1 |url=}}</ref> In addition association between SNPs in or near ''PTCH1'' have been found to be associated with non syndromic [[cleft lip and palate]].<ref name="pmid16405370" /><ref name="pmid19779022">{{cite journal |author=Moreno LM, Mansilla MA, Bullard SA, ''et al.'' |title=FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate |journal=Hum. Mol. Genet. |volume=18 |issue=24 |pages=4879–96 |year=2009 |month=December |pmid=19779022 |pmc=2778374 |doi=10.1093/hmg/ddp444 |url=}}</ref> Mutations in ''PTCH1'' are also associated with [[medulloblastoma]]<ref>{{cite journal|last=Jones|first=David T. W.|coauthors=Jäger, Natalie; Kool, Marcel; Zichner, Thomas; ''et al.''|title=Dissecting the genomic complexity underlying medulloblastoma|journal=Nature|doi=10.1038/nature11284}}</ref>.


== References ==
== References ==

Revision as of 06:10, 26 July 2012

Template:PBB Protein patched homolog 1 is a protein that is the member of the Patched family and in humans is encoded by the PTCH1 gene.[1][2]

Function

PTCH1 is a member of the patched gene family and is the receptor for sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis. This gene functions as a tumor suppressor.

Clinical significance

Mutations of this gene have been associated with nevoid basal cell carcinoma syndrome, esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, as well as holoprosencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences and biological validity cannot be determined currently.[2]

Mutatations in PTCH1 cause Gorlin syndrome often with a midline cleft lip[3] and mutations have also been found in holoprosencephaly patients.[4][5][6] Some of these patients present cleft lip and palate among the holoprosencephaly features and missense variants in PTCH1 were also found in a sequencing screening of non syndromic cleft lip and palate patients.[7] In addition association between SNPs in or near PTCH1 have been found to be associated with non syndromic cleft lip and palate.[7][8] Mutations in PTCH1 are also associated with medulloblastoma[9].

References

  1. ^ Johnson RL, Rothman AL, Xie J, Goodrich LV, Bare JW, Bonifas JM, Quinn AG, Myers RM, Cox DR, Epstein EH Jr, Scott MP (1996). "Human homolog of patched, a candidate gene for the basal cell nevus syndrome". Science. 272 (5268): 1668–71. doi:10.1126/science.272.5268.1668. PMID 8658145. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  2. ^ a b "Entrez Gene: PTCH1 patched homolog 1 (Drosophila)".
  3. ^ Dixon MJ, Marazita ML, Beaty TH, Murray JC (2011). "Cleft lip and palate: understanding genetic and environmental influences". Nat. Rev. Genet. 12 (3): 167–78. doi:10.1038/nrg2933. PMC 3086810. PMID 21331089. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  4. ^ Ming JE, Kaupas ME, Roessler E; et al. (2002). "Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly". Hum. Genet. 110 (4): 297–301. doi:10.1007/s00439-002-0695-5. PMID 11941477. {{cite journal}}: Explicit use of et al. in: |author= (help); Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  5. ^ Rahimov F, Ribeiro LA, de Miranda E, Richieri-Costa A, Murray JC (2006). "GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?". Am. J. Med. Genet. A. 140 (23): 2571–6. doi:10.1002/ajmg.a.31370. PMID 17096318. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  6. ^ Ribeiro LA, Quiezi RG, Nascimento A, Bertolacini CP, Richieri-Costa A (2010). "Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients". Am. J. Med. Genet. A. 152A (7): 1688–94. doi:10.1002/ajmg.a.33466. PMID 20583177. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  7. ^ a b Mansilla MA, Cooper ME, Goldstein T; et al. (2006). "Contributions of PTCH gene variants to isolated cleft lip and palate". Cleft Palate Craniofac. J. 43 (1): 21–9. doi:10.1597/04-169R.1. PMC 2151847. PMID 16405370. {{cite journal}}: Explicit use of et al. in: |author= (help); Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  8. ^ Moreno LM, Mansilla MA, Bullard SA; et al. (2009). "FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate". Hum. Mol. Genet. 18 (24): 4879–96. doi:10.1093/hmg/ddp444. PMC 2778374. PMID 19779022. {{cite journal}}: Explicit use of et al. in: |author= (help); Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  9. ^ Jones, David T. W. "Dissecting the genomic complexity underlying medulloblastoma". Nature. doi:10.1038/nature11284. {{cite journal}}: Unknown parameter |coauthors= ignored (|author= suggested) (help)

Further reading

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