title: Transcriptional map of 170-kb region at chromosome 11p15.5: identification and mutational analysis of the BWR1A gene reveals the presence of mutations in tumor samples.
abstract: Chromosome region 11p15.5 harbors unidentified genes involved in neoplasms and in the genetic disease Beckwith-Wiedemann syndrome. The genetic analysis of a 170-kb region at 11p15.5 between loci D11S601 and D11S679 resulted in the identification of six transcriptional units. Three genes, hNAP2, CDKN1C, and KVLQT1, are well characterized, whereas three genes are novel. The three additional genes were designated BWR1A, BWR1B, and BWR1C. Full-length cDNAs for these three genes were cloned and nucleotide sequences were determined. While our work was in progress, BWR1C cDNA was described as IPL [Qian, N., Franck, D., O'Keefe, D., Dao, D. , Zhao, L., Yuan, L., Wang, Q., Keating, M., Walsh, C. & Tycko, B. (1997) Hum. Mol. Genet. 6, 2021-2029]. The cloning and mapping of these genes together with the fine mapping of the three known genes indicates that the transcriptional map of this region is likely to be complete. Because this region frequently is altered in neoplasms and in the genetic disease Beckwith-Wiedemann syndrome, we carried out a mutational analysis in tumor cell lines and Beckwith-Wiedemann syndrome samples that resulted in the identification of genetic alterations in the BWR1A gene: an insertion that introduced a stop codon in the breast cancer cell line BT549 and a point mutation in the rhabdomyosarcoma cell line TE125-T. These results indicate that BWR1A may play a role in tumorigenesis.
authors.affiliation: Department of Experimental and Diagnostic Medicine, Section of Microbiology, and Interdepartment Center for Biotechnology, University of Ferrara, 44100, Ferrara, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Schwienbacher
authors.forename: S
authors.initials: S
authors.lastname: Sabbioni
authors.forename: M
authors.initials: M
authors.lastname: Campi
authors.forename: A
authors.initials: A
authors.lastname: Veronese
authors.forename: G
authors.initials: G
authors.lastname: Bernardi
authors.forename: A
authors.initials: A
authors.lastname: Menegatti
authors.forename: I
authors.initials: I
authors.lastname: Hatada
authors.forename: T
authors.initials: T
authors.lastname: Mukai
authors.forename: H
authors.initials: H
authors.lastname: Ohashi
authors.forename: G
authors.initials: G
authors.lastname: Barbanti-Brodano
authors.forename: C M
authors.initials: CM
authors.lastname: Croce
authors.forename: M
authors.initials: M
authors.lastname: Negrini
mesh_terms: D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics*; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009369:Neoplasms / Q000235:genetics*; D027701:Organic Cation Transport Proteins; D011506:Proteins / Q000235:genetics*; D014158:Transcription, Genetic; D014407:Tumor Cells, Cultured
chemical_list: D027701:Organic Cation Transport Proteins; D011506:Proteins; C111653:SLC22A18 protein, human