title: A long-range restriction map across 3 Mb of the chromosome 11 breakpoint region of a translocation linked to schizophrenia: localization of the breakpoint and the search for neighbouring genes.
abstract: A balanced t(1;11)(q42.1;q14.3) translocation segregates with schizophrenia and related mental illness in a single large Scottish pedigree. We have constructed a long-range restriction map covering at least 3 Mb of the chromosome 11 breakpoint region and conducted searches for genes whose expression could be altered by the translocation, resulting in schizophrenia. Novel transcribed sequences of unknown function clustered around putative CpG islands, located approximately 500 kb and 700 kb above the breakpoint, represent the only evidence to date for expressed genes within the mapped region.
authors.affiliation: MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK. Kirsty.Millar@hgu.mrc.ac.uk
authors.forename: J K
authors.initials: JK
authors.lastname: Millar
authors.forename: J
authors.initials: J
authors.lastname: Brown
authors.forename: J C
authors.initials: JC
authors.lastname: Maule
authors.forename: Y
authors.initials: Y
authors.lastname: Shibasaki
authors.forename: S
authors.initials: S
authors.lastname: Christie
authors.forename: D
authors.initials: D
authors.lastname: Lawson
authors.forename: S
authors.initials: S
authors.lastname: Anderson
authors.forename: J C
authors.initials: JC
authors.lastname: Wilson-Annan
authors.forename: R S
authors.initials: RS
authors.lastname: Devon
authors.forename: D M
authors.initials: DM
authors.lastname: St Clair
authors.forename: D H
authors.initials: DH
authors.lastname: Blackwood
authors.forename: W J
authors.initials: WJ
authors.lastname: Muir
authors.forename: D J
authors.initials: DJ
authors.lastname: Porteous
mesh_terms: D002478:Cells, Cultured; D018244:Chromosomes, Artificial, Yeast; D002878:Chromosomes, Human, Pair 1 / Q000648:ultrastructure; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics* / Q000648:ultrastructure; D003360:Cosmids; D018899:CpG Islands; D020224:Expressed Sequence Tags; D015723:Gene Library; D020022:Genetic Predisposition to Disease; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D010375:Pedigree; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping; D012559:Schizophrenia / Q000453:epidemiology / Q000235:genetics*; D012606:Scotland / Q000453:epidemiology; D014158:Transcription, Genetic; D014178:Translocation, Genetic / Q000235:genetics*