title: Integrated physical map of the human essential tremor gene region (ETM2) on chromosome 2p24.3-p24.2.
abstract: A gene for autosomal dominant familial essential tremor maps to a 9.1 cM interval flanked by loci D2S224 and D2S405 (ETM2) on human chromosome 2p24.3-p24.2. The recombinatorial boundaries of the interval were refined on a radiation hybrid map to a 123 cR minimal critical region (MCR) between D2S224 and D2S2221. High-throughput non-isotopic screening of bacterial artificial chromosomes (BACs) was used to assemble a physical map of the region. A scaffold BAC map of 31 overlapping clones was ordered by their sequence tagged site (STS) content using PCR and Southern blotting. A complementary 3.9 Mb integrated physical map of the human ETM2 region was constructed by identifying GenBank contigs that contained seven BAC DNA sequences and common STSs. Thirty-three transcripts including five known genes (MATN3, LAPTM4A, SDC1, PUM2, and APOB) were identified in the MCR and ordered on an integrated contig by PCR and virtual mapping. This physical map will provide a template for genomic sequencing and the identification of a gene for essential tremor.
authors.affiliation: Center for Human Genetics and Child Neurology, Mid-Hudson Family Health Institute, New Paltz, New York 12561, USA. jhiggins@fpinstitute.org
authors.forename: Joseph J
authors.initials: JJ
authors.lastname: Higgins
authors.forename: Roni Q
authors.initials: RQ
authors.lastname: Lombardi
authors.forename: Joanna
authors.initials: J
authors.lastname: Pucilowska
authors.forename: Melanie U
authors.initials: MU
authors.lastname: Ruszczyk
mesh_terms: D022202:Chromosomes, Artificial, Bacterial / Q000235:genetics; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D020451:Contig Mapping; D020329:Essential Tremor / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D018895:Microsatellite Repeats; D020161:Physical Chromosome Mapping / Q000379:methods*; D021101:Radiation Hybrid Mapping; D016324:Sequence Tagged Sites