title: Physical and transcript map of the dominant optic atrophy (OPA1) gene critical region at 3q28-q29.
abstract: The dominant optic atrophy gene (OPA1) has previously been mapped to chromosome 3q28-q29. We have now constructed a physical and transcriptional map across the OPA1 critical region between markers D3S3557 and D3S3346. It comprises 21 sequence-tagged sites (STSs), 4 single nucleotide polymorphisms, 29 expressed sequence tags, 2 known genes, and 12 newly generated STSs anchored onto 21 yeast artificial chromosome, 22 bacterial artificial chromosome, 48 P1 phage artificial chromosome, and 42 cosmid overlapping clones spanning 2.5 Mb. The map has allowed us to order many of the markers hitherto only roughly defined and to exclude 23 of the putative candidate genes assigned to the region. We found the OPA1 critical interval to be 450-550 kb. It contains 2 known genes, RPL35a and SDHA, which thus constitute candidate genes.
authors.affiliation: Division of Medical & Molecular Genetics, Guy's Hospital, London, SE1 9RT, United Kingdom.
authors.forename: J T
authors.initials: JT
authors.lastname: Behnam
authors.forename: C
authors.initials: C
authors.lastname: Hamer
authors.forename: D
authors.initials: D
authors.lastname: Spalton
authors.forename: R
authors.initials: R
authors.lastname: Johnston
authors.forename: M J
authors.initials: MJ
authors.lastname: Seller
mesh_terms: D002893:Chromosomes, Human, Pair 3; D006801:Humans; D008969:Molecular Sequence Data; D015418:Optic Atrophies, Hereditary / Q000235:genetics*; D020161:Physical Chromosome Mapping; D016324:Sequence Tagged Sites; D014158:Transcription, Genetic