title: Mutation screening and assessment of the effect of genetic variations on expression and RNA editing of serotonin receptor 2C in the human brain.
abstract: OBJECTIVE
  Serotonin receptor 2C (HTR2C) has been postulated as being involved in the etiology or pathophysiology of mental disorders such as bipolar disorder, major depression and schizophrenia. We previously revealed the altered mRNA expression and RNA editing of HTR2C in the postmortem brains of patients with mental disorders. Here we examined the relationship between genetic variations and expression level or RNA editing level of HTR2C in the human brain.
  
  
  METHODS
  We performed mutation screening of the HTR2C gene by sequencing all exons, exon-intron boundaries, and promoter region in the same cohort used for expression and RNA editing studies (n = 58). Using the detected genetic variations, we examined the relationship between genetic variations and expression or RNA editing level.
  
  
  CONCLUSIONS
  We did not find novel mutations or single nucleotide polymorphisms that were specific to patients. Genotype and haplotype-based analyses revealed that genetic variations of HTR2C did not account for observed altered expression or RNA editing level of HTR2C in the brain.
authors.affiliation: Laboratory for Molecular Dynamics of Mental Disorders, RIKEN Brain Science Institute, Saitama, Japan.
authors.forename: Miki
authors.initials: M
authors.lastname: Bundo
authors.forename: Kazuya
authors.initials: K
authors.lastname: Iwamoto
authors.forename: Kazuo
authors.initials: K
authors.lastname: Yamada
authors.forename: Takeo
authors.initials: T
authors.lastname: Yoshikawa
authors.forename: Tadafumi
authors.initials: T
authors.lastname: Kato
mesh_terms: D001714:Bipolar Disorder / Q000235:genetics; D001923:Brain Chemistry / Q000235:genetics*; D015331:Cohort Studies; D003627:Data Interpretation, Statistical; D005820:Genetic Testing; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D008099:Liver / Q000737:chemistry; D009154:Mutation / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics; D011401:Promoter Regions, Genetic / Q000235:genetics; D011569:Psychiatric Status Rating Scales; D012313:RNA / Q000096:biosynthesis / Q000235:genetics; D017393:RNA Editing; D044405:Receptor, Serotonin, 5-HT2C / Q000096:biosynthesis / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012559:Schizophrenia / Q000235:genetics
chemical_list: D044405:Receptor, Serotonin, 5-HT2C; D012313:RNA