PTCH Gene Mutations in Odontogenic Keratocysts
An odontogenic keratocyst (OKC) is a benign cystic lesion of the jaws that occurs sporadically or in association with nevoid basal cell carcinoma syndrome (NBCCS). Recently, the gene for NBCCS was cloned and shown to be the human homologue of the Drosophila segment polarity gene Patched (PTCH), a tu...
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| Veröffentlicht in: | Journal of dental research 2000-06, Vol.79 (6), p.1418-1422 |
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| creator | Barreto, D.C. Gomez, R.S. Bale, A.E. Boson, W.L. De Marco, L. |
| description | An odontogenic keratocyst (OKC) is a benign cystic lesion of the jaws that occurs sporadically or in association with nevoid basal cell carcinoma syndrome (NBCCS). Recently, the gene for NBCCS was cloned and shown to be the human homologue of the Drosophila segment polarity gene Patched (PTCH), a tumor suppressor gene. The PTCH gene encodes a transmembrane protein that acts in opposition to the Hedgehog signaling protein, controlling cell fates, patterning, and growth in numerous tissues, including tooth. We investigated three cases of sporadic odontogenic keratocysts and three other cases associated with NBCCS, looking for mutations of the PTCH gene. Non-radioactive single-strand conformational polymorphism and direct sequencing of PCR products revealed a deletion of 5 base pairs (bp) in exon 3 (518delAAGCG) in one sporadic cyst as well as mutations in two cysts associated with NBCCS, a nonsense (C2760A) and a missense (G3499A) alteration. This report is the first to describe a somatic mutation of PTCH in sporadic odontogenic keratocysts as well as two novel mutations in cysts associated with NBCCS, indicating a similar pathogenesis in a subset of sporadic keratocysts. |
| doi_str_mv | 10.1177/00220345000790061101 |
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Recently, the gene for NBCCS was cloned and shown to be the human homologue of the Drosophila segment polarity gene Patched (PTCH), a tumor suppressor gene. The PTCH gene encodes a transmembrane protein that acts in opposition to the Hedgehog signaling protein, controlling cell fates, patterning, and growth in numerous tissues, including tooth. We investigated three cases of sporadic odontogenic keratocysts and three other cases associated with NBCCS, looking for mutations of the PTCH gene. Non-radioactive single-strand conformational polymorphism and direct sequencing of PCR products revealed a deletion of 5 base pairs (bp) in exon 3 (518delAAGCG) in one sporadic cyst as well as mutations in two cysts associated with NBCCS, a nonsense (C2760A) and a missense (G3499A) alteration. This report is the first to describe a somatic mutation of PTCH in sporadic odontogenic keratocysts as well as two novel mutations in cysts associated with NBCCS, indicating a similar pathogenesis in a subset of sporadic keratocysts.</description><identifier>ISSN: 0022-0345</identifier><identifier>EISSN: 1544-0591</identifier><identifier>DOI: 10.1177/00220345000790061101</identifier><identifier>PMID: 10890722</identifier><identifier>CODEN: JDREAF</identifier><language>eng</language><publisher>Los Angeles, CA: SAGE Publications</publisher><subject>Adult ; Amino Acid Substitution - genetics ; Basal Cell Nevus Syndrome - genetics ; Base Pairing - genetics ; Codon, Nonsense - genetics ; Dentistry ; Embryonic Induction - genetics ; Exons - genetics ; Female ; Frameshift Mutation - genetics ; Gene Deletion ; Genes, Tumor Suppressor - genetics ; Hedgehog Proteins ; Humans ; Male ; Membrane Proteins - genetics ; Mutation - genetics ; Mutation, Missense - genetics ; Odontogenic Cysts - genetics ; Patched Receptors ; Patched-1 Receptor ; Polymerase Chain Reaction ; Polymorphism, Single-Stranded Conformational ; Proteins - genetics ; Receptors, Cell Surface ; Sequence Analysis, DNA ; Signal Transduction - genetics ; Trans-Activators</subject><ispartof>Journal of dental research, 2000-06, Vol.79 (6), p.1418-1422</ispartof><rights>Copyright American Association for Dental Research/American Academy of Implant Dentistry Jun 2000</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c467t-11dd5a86229739710b01f401a78d308f9ef2cd83ca498ab9696e164a840f43db3</citedby><cites>FETCH-LOGICAL-c467t-11dd5a86229739710b01f401a78d308f9ef2cd83ca498ab9696e164a840f43db3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://journals.sagepub.com/doi/pdf/10.1177/00220345000790061101$$EPDF$$P50$$Gsage$$H</linktopdf><linktohtml>$$Uhttps://journals.sagepub.com/doi/10.1177/00220345000790061101$$EHTML$$P50$$Gsage$$H</linktohtml><link.rule.ids>314,776,780,21798,27901,27902,43597,43598</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10890722$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Barreto, D.C.</creatorcontrib><creatorcontrib>Gomez, R.S.</creatorcontrib><creatorcontrib>Bale, A.E.</creatorcontrib><creatorcontrib>Boson, W.L.</creatorcontrib><creatorcontrib>De Marco, L.</creatorcontrib><title>PTCH Gene Mutations in Odontogenic Keratocysts</title><title>Journal of dental research</title><addtitle>J Dent Res</addtitle><description>An odontogenic keratocyst (OKC) is a benign cystic lesion of the jaws that occurs sporadically or in association with nevoid basal cell carcinoma syndrome (NBCCS). Recently, the gene for NBCCS was cloned and shown to be the human homologue of the Drosophila segment polarity gene Patched (PTCH), a tumor suppressor gene. The PTCH gene encodes a transmembrane protein that acts in opposition to the Hedgehog signaling protein, controlling cell fates, patterning, and growth in numerous tissues, including tooth. We investigated three cases of sporadic odontogenic keratocysts and three other cases associated with NBCCS, looking for mutations of the PTCH gene. Non-radioactive single-strand conformational polymorphism and direct sequencing of PCR products revealed a deletion of 5 base pairs (bp) in exon 3 (518delAAGCG) in one sporadic cyst as well as mutations in two cysts associated with NBCCS, a nonsense (C2760A) and a missense (G3499A) alteration. This report is the first to describe a somatic mutation of PTCH in sporadic odontogenic keratocysts as well as two novel mutations in cysts associated with NBCCS, indicating a similar pathogenesis in a subset of sporadic keratocysts.</description><subject>Adult</subject><subject>Amino Acid Substitution - genetics</subject><subject>Basal Cell Nevus Syndrome - genetics</subject><subject>Base Pairing - genetics</subject><subject>Codon, Nonsense - genetics</subject><subject>Dentistry</subject><subject>Embryonic Induction - genetics</subject><subject>Exons - genetics</subject><subject>Female</subject><subject>Frameshift Mutation - genetics</subject><subject>Gene Deletion</subject><subject>Genes, Tumor Suppressor - genetics</subject><subject>Hedgehog Proteins</subject><subject>Humans</subject><subject>Male</subject><subject>Membrane Proteins - genetics</subject><subject>Mutation - genetics</subject><subject>Mutation, Missense - genetics</subject><subject>Odontogenic Cysts - genetics</subject><subject>Patched Receptors</subject><subject>Patched-1 Receptor</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Single-Stranded Conformational</subject><subject>Proteins - genetics</subject><subject>Receptors, Cell Surface</subject><subject>Sequence Analysis, DNA</subject><subject>Signal Transduction - genetics</subject><subject>Trans-Activators</subject><issn>0022-0345</issn><issn>1544-0591</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNp9kLFOwzAQhi0EoqXwBghFDGwpd7YT2yNCUBBFZYA5chynStXGxXaGvj2pUgmEEMvd8v3fnX5CLhGmiELcAlAKjGcAIBRAjgh4RMaYcZ5CpvCYjPdIumdG5CyEFQAqKtkpGSFIBYLSMZm-vd8_JTPb2uS1izo2rg1J0yaLyrXRLW3bmOTFeh2d2YUYzslJrdfBXhz2hHw8PvSGdL6YPd_fzVPDcxFTxKrKtMwpVYIpgVAC1hxQC1kxkLWyNTWVZEZzJXWpcpVbzLmWHGrOqpJNyM3g3Xr32dkQi00TjF2vdWtdFwqBVMh-9OD1L3DlOt_2vxUUFM8YSuwhPkDGuxC8rYutbzba7wqEYl9m8VeZfezq4O7Kja1-hIb2egAHIOil_T78r_QLBJd5VQ</recordid><startdate>20000601</startdate><enddate>20000601</enddate><creator>Barreto, D.C.</creator><creator>Gomez, R.S.</creator><creator>Bale, A.E.</creator><creator>Boson, W.L.</creator><creator>De Marco, L.</creator><general>SAGE Publications</general><general>SAGE PUBLICATIONS, INC</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7RQ</scope><scope>7RV</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB0</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>S0X</scope><scope>U9A</scope><scope>7X8</scope></search><sort><creationdate>20000601</creationdate><title>PTCH Gene Mutations in Odontogenic Keratocysts</title><author>Barreto, D.C. ; Gomez, R.S. ; Bale, A.E. ; Boson, W.L. ; De Marco, L.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c467t-11dd5a86229739710b01f401a78d308f9ef2cd83ca498ab9696e164a840f43db3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>Adult</topic><topic>Amino Acid Substitution - genetics</topic><topic>Basal Cell Nevus Syndrome - genetics</topic><topic>Base Pairing - genetics</topic><topic>Codon, Nonsense - genetics</topic><topic>Dentistry</topic><topic>Embryonic Induction - genetics</topic><topic>Exons - genetics</topic><topic>Female</topic><topic>Frameshift Mutation - genetics</topic><topic>Gene Deletion</topic><topic>Genes, Tumor Suppressor - genetics</topic><topic>Hedgehog Proteins</topic><topic>Humans</topic><topic>Male</topic><topic>Membrane Proteins - genetics</topic><topic>Mutation - genetics</topic><topic>Mutation, Missense - genetics</topic><topic>Odontogenic Cysts - genetics</topic><topic>Patched Receptors</topic><topic>Patched-1 Receptor</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism, Single-Stranded Conformational</topic><topic>Proteins - genetics</topic><topic>Receptors, Cell Surface</topic><topic>Sequence Analysis, DNA</topic><topic>Signal Transduction - genetics</topic><topic>Trans-Activators</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Barreto, D.C.</creatorcontrib><creatorcontrib>Gomez, R.S.</creatorcontrib><creatorcontrib>Bale, A.E.</creatorcontrib><creatorcontrib>Boson, W.L.</creatorcontrib><creatorcontrib>De Marco, L.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Career & Technical Education Database</collection><collection>Nursing & Allied Health Database</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>SIRS Editorial</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of dental research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Barreto, D.C.</au><au>Gomez, R.S.</au><au>Bale, A.E.</au><au>Boson, W.L.</au><au>De Marco, L.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>PTCH Gene Mutations in Odontogenic Keratocysts</atitle><jtitle>Journal of dental research</jtitle><addtitle>J Dent Res</addtitle><date>2000-06-01</date><risdate>2000</risdate><volume>79</volume><issue>6</issue><spage>1418</spage><epage>1422</epage><pages>1418-1422</pages><issn>0022-0345</issn><eissn>1544-0591</eissn><coden>JDREAF</coden><abstract>An odontogenic keratocyst (OKC) is a benign cystic lesion of the jaws that occurs sporadically or in association with nevoid basal cell carcinoma syndrome (NBCCS). Recently, the gene for NBCCS was cloned and shown to be the human homologue of the Drosophila segment polarity gene Patched (PTCH), a tumor suppressor gene. The PTCH gene encodes a transmembrane protein that acts in opposition to the Hedgehog signaling protein, controlling cell fates, patterning, and growth in numerous tissues, including tooth. We investigated three cases of sporadic odontogenic keratocysts and three other cases associated with NBCCS, looking for mutations of the PTCH gene. Non-radioactive single-strand conformational polymorphism and direct sequencing of PCR products revealed a deletion of 5 base pairs (bp) in exon 3 (518delAAGCG) in one sporadic cyst as well as mutations in two cysts associated with NBCCS, a nonsense (C2760A) and a missense (G3499A) alteration. This report is the first to describe a somatic mutation of PTCH in sporadic odontogenic keratocysts as well as two novel mutations in cysts associated with NBCCS, indicating a similar pathogenesis in a subset of sporadic keratocysts.</abstract><cop>Los Angeles, CA</cop><pub>SAGE Publications</pub><pmid>10890722</pmid><doi>10.1177/00220345000790061101</doi><tpages>5</tpages></addata></record> |
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| subjects | Adult Amino Acid Substitution - genetics Basal Cell Nevus Syndrome - genetics Base Pairing - genetics Codon, Nonsense - genetics Dentistry Embryonic Induction - genetics Exons - genetics Female Frameshift Mutation - genetics Gene Deletion Genes, Tumor Suppressor - genetics Hedgehog Proteins Humans Male Membrane Proteins - genetics Mutation - genetics Mutation, Missense - genetics Odontogenic Cysts - genetics Patched Receptors Patched-1 Receptor Polymerase Chain Reaction Polymorphism, Single-Stranded Conformational Proteins - genetics Receptors, Cell Surface Sequence Analysis, DNA Signal Transduction - genetics Trans-Activators |
| title | PTCH Gene Mutations in Odontogenic Keratocysts |
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