title: A high-resolution STS, EST, and gene-based physical map of the hereditary paraganglioma region on chromosome 11q23.
abstract: The genes responsible for hereditary paragangliomas (glomus tumors, MIM No. 168000) have been mapped to two distinct loci on the long arm of chromosome 11. Most of the informative families appear to be linked to the distal locus on chromosome 11q23 (PGL1), which has been previously confined to a 2-cM interval by haplotype analysis in an extended Dutch pedigree. To facilitate the identification of the PGL1 disease gene, we constructed an approximately 4-Mb ordered clone contig map of Sequence tagged sites, expressed sequence tags (ESTs), and known genes that spans the PGL1 critical region on chromosome 11q23. Among 29 new positional candidate ESTs, only two (EST100999 and EST241777) mapped within the PGL1 critical region. We further characterized the genomic organization of the promyelocytic leukemia zinc finger (PLZF) gene that maps within the PGL1 critical region and physically excluded the serotonin receptor type 3 (5HT3R) gene. Finally, we identified a common, silent, single-base substitution polymorphism in the 5HT3R gene and characterized the allele sets of two new highly polymorphic microsatellite repeats within the PGL1 critical region.
authors.affiliation: Department of Human Genetics, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania 15213, USA. bebst13+@pitt.edu
authors.forename: B E
authors.initials: BE
authors.lastname: Baysal
authors.forename: E M
authors.initials: EM
authors.lastname: van Schothorst
authors.forename: J E
authors.initials: JE
authors.lastname: Farr
authors.forename: M R
authors.initials: MR
authors.lastname: James
authors.forename: P
authors.initials: P
authors.lastname: Devilee
authors.forename: C W
authors.initials: CW
authors.lastname: Richard
mesh_terms: D000483:Alleles; D001483:Base Sequence; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast / Q000235:genetics; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D003360:Cosmids; D017931:DNA Primers / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D015870:Gene Expression; D005918:Glomus Tumor / Q000235:genetics*; D006801:Humans; D051741:Kruppel-Like Transcription Factors; D018895:Microsatellite Repeats; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D000075722:Promyelocytic Leukemia Zinc Finger Protein; D016324:Sequence Tagged Sites; D014157:Transcription Factors / Q000235:genetics
chemical_list: D017931:DNA Primers; D004268:DNA-Binding Proteins; D051741:Kruppel-Like Transcription Factors; D000075722:Promyelocytic Leukemia Zinc Finger Protein; D014157:Transcription Factors; C092037:ZBTB16 protein, human