title: Analysis of a t(18;21)(p11.1;p11.1) translocation in a family with schizophrenia.
abstract: It is suggested that chromosome 18p11 is a susceptibility region for both bipolar disorder and schizophrenia. Aiming to identify susceptibility gene(s), we investigated a family whose members have either schizophrenia or schizophrenia-spectrum psychosis and carried a t(18;21)(p11.1;p11.1) translocation. Fluorescence in situ hybridization showed that the breakpoint on chromosome 21 was localized to a bacterial artificial chromosome (BAC) clone RP11-2503J9, which contained coding sequences for transmembrane phosphatase with tensin homology, although this gene was not disrupted. On chromosome 18p, the break point was narrowed to BAC clone RP11-527H14. In silico sequence analysis of this clone identified possible pseudo genes and gene fragments but no intact genes. RP11-527H14 also showed sites of cross hybridization, including 21p11.1. To test for a position effect on 18p11 sequences translocated to 21p11, we performed quantitative RT-PCR to measure the expression of the candidate gene C18orf1 in translocation carriers, but found no significant differences from controls in lymphoblastoid cells.
authors.affiliation: Laboratory for Molecular Psychiatry, RIKEN, Brain Science Institute, Saitama, Japan.
authors.forename: Joanne M A
authors.initials: JM
authors.lastname: Meerabux
authors.forename: Hisako
authors.initials: H
authors.lastname: Ohba
authors.forename: Yoshimi
authors.initials: Y
authors.lastname: Iwayama
authors.forename: Motoko
authors.initials: M
authors.lastname: Maekawa
authors.forename: Sevilla D
authors.initials: SD
authors.lastname: Detera-Wadleigh
authors.forename: Lynn E
authors.initials: LE
authors.lastname: DeLisi
authors.forename: Takeo
authors.initials: T
authors.lastname: Yoshikawa
mesh_terms: D002460:Cell Line; D002874:Chromosome Mapping; D022202:Chromosomes, Artificial, Bacterial / Q000235:genetics; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D002999:Clone Cells; D019295:Computational Biology; D005091:Exons / Q000235:genetics; D020224:Expressed Sequence Tags; D005190:Family; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D010375:Pedigree; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012559:Schizophrenia / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*
chemical_list: C111334:LDLRAD4 protein, human; D008565:Membrane Proteins