title: Genomic structure of the human PLZF gene.
abstract: The human PLZF (promyelocytic leukaemia zinc finger) gene encodes a Krüppel-like zinc finger protein, which was identified via the reciprocal translocation t(11;17)(q23;q21) fusing it to the retinoic acid receptor alpha (RARalpha) gene in promyelocytic leukaemia. To determine its complete genomic organisation, we constructed a cosmid-map fully containing the hPLZF gene. The gene has seven exons, including a novel 5' untranslated exon, varying in size from 87 to 1358bp and spans at least 120kb. Flanking intronic sequences were identified and all splice acceptor and donor sites conformed to the gt/ag rule. Five polymorphic markers could be fine located in its vicinity. These data will facilitate mutation analysis of hPLZF in t(11;17) leukaemia cases, as well as assist mapping and loss-of-heterozygosity analysis. Here we have tested hPLZF as a possible candidate for the PGL1 locus involved in hereditary head and neck paragangliomas. However, mutation analysis revealed no aberration in 12 paraganglioma patients from different families.
authors.affiliation: Department of Human Genetics, Leiden University Medical Centre, Sylvius Laboratorium, Wassenaarsweg 72, 2333 AL, Leiden, The Netherlands.
authors.forename: E M
authors.initials: EM
authors.lastname: van Schothorst
authors.forename: D E
authors.initials: DE
authors.lastname: Prins
authors.forename: B E
authors.initials: BE
authors.lastname: Baysal
authors.forename: M
authors.initials: M
authors.lastname: Beekman
authors.forename: J D
authors.initials: JD
authors.lastname: Licht
authors.forename: S
authors.initials: S
authors.lastname: Waxman
authors.forename: A
authors.initials: A
authors.lastname: Zelent
authors.forename: C J
authors.initials: CJ
authors.lastname: Cornelisse
authors.forename: G J
authors.initials: GJ
authors.lastname: van Ommen
authors.forename: C W
authors.initials: CW
authors.lastname: Richard
authors.forename: P
authors.initials: P
authors.lastname: Devilee
mesh_terms: D001483:Base Sequence; D018244:Chromosomes, Artificial, Yeast; D002880:Chromosomes, Human, Pair 11; D003360:Cosmids; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons; D005819:Genetic Markers; D018095:Germ-Line Mutation; D006801:Humans; D007438:Introns; D051741:Kruppel-Like Transcription Factors; D008957:Models, Genetic; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D000075722:Promyelocytic Leukemia Zinc Finger Protein; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D005819:Genetic Markers; D051741:Kruppel-Like Transcription Factors; D000075722:Promyelocytic Leukemia Zinc Finger Protein; D014157:Transcription Factors; C092037:ZBTB16 protein, human