title: Yeast artificial chromosome cloning and chromosomal localization of the abundant odontogenic keratocyst protein elafin.
abstract: An imbalance in human leucocyte elastase (HLE) activity is widely recognized to play an important pathological role in a number of human diseases. An earlier report has described greater transcription of elafin, an endogenous inhibitor of HLE, in epithelia of odontogenic keratocysts of the jaw than in normal oral mucosa. The elafin gene was now localized to chromosome 20q11.2-13.1 using a combination of somatic cell-hybrid panel screening and fluorescence in situ hybridization using a biotinylated DNA probe prepared from isolated yeast artificial chromosomes. No other positive fluorescent signals were observed. This eliminates the elafin gene as a candidate gene for naevoid basal-cell carcinoma syndrome, as the gene for this syndrome localizes to chromosome 9q23.1-31. The elafin yeast artificial chromosome DNA is to be subcloned to identify polymorphic microsatellite markers that will establish whether this gene is frequently amplified in oral neoplastic tissue.
authors.affiliation: Division of Dental Surgery, Leeds Dental Institute, West Yorkshire, U.K.
authors.forename: P A
authors.initials: PA
authors.lastname: Robinson
authors.forename: J P
authors.initials: JP
authors.lastname: Leek
authors.forename: I M
authors.initials: IM
authors.lastname: Carr
authors.forename: A
authors.initials: A
authors.lastname: Bailey
authors.forename: N J
authors.initials: NJ
authors.lastname: Lench
authors.forename: J
authors.initials: J
authors.lastname: Morrison
authors.forename: W J
authors.initials: WJ
authors.lastname: Hume
authors.forename: A S
authors.initials: AS
authors.lastname: High
authors.forename: A F
authors.initials: AF
authors.lastname: Markham
mesh_terms: D001478:Basal Cell Nevus Syndrome / Q000201:enzymology / Q000235:genetics; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast / Q000235:genetics*; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D003001:Cloning, Molecular; D015342:DNA Probes; D004848:Epithelium / Q000201:enzymology; D005453:Fluorescence; D005784:Gene Amplification; D006801:Humans; D006822:Hybrid Cells; D017403:In Situ Hybridization; D019272:Leukocyte Elastase / Q000037:antagonists & inhibitors / Q000378:metabolism; D008565:Membrane Proteins / Q000235:genetics*; D018895:Microsatellite Repeats / Q000235:genetics; D009061:Mouth Mucosa / Q000201:enzymology; D009062:Mouth Neoplasms / Q000201:enzymology / Q000235:genetics; D009807:Odontogenic Cysts / Q000201:enzymology* / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics; D053491:Proteinase Inhibitory Proteins, Secretory; D011506:Proteins / Q000235:genetics*; D015842:Serine Proteinase Inhibitors / Q000235:genetics*; D014158:Transcription, Genetic / Q000235:genetics
chemical_list: D015342:DNA Probes; D008565:Membrane Proteins; D053491:Proteinase Inhibitory Proteins, Secretory; D011506:Proteins; D015842:Serine Proteinase Inhibitors; D019272:Leukocyte Elastase