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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Bibliographic Details
Published in:Journal of dental research 2000-06, Vol.79 (6), p.1418-1422
Main Authors: Barreto, D.C., Gomez, R.S., Bale, A.E., Boson, W.L., De Marco, L.
Format: Article
Language:English
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
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Summary: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.
ISSN:0022-0345
1544-0591
DOI:10.1177/00220345000790061101