Sequence analysis of an intronless gene within GNAL on 18q11 in individuals affected with bipolar disorder

J. A. Trofatter, K. M. Nurnberger, W. H. Berrettini, J. I. Nurnberger

Research output: Contribution to journalArticle


The short and long arms of chromosome 18 have been identified as regions that may contain genes associated with susceptibility to bipolar disease. Extensive work has been carried out to identify candidate genes in both regions. Much of the work in the 18p11.2 region has centered around the twelve exon GNAL/G (olf) gene which encodes a GTP-binding protein involved in odorant signal transduction. A small intronless gene (Berrettini name 22444; also human EST AW013797) has been identified within the fifth intron of the GNAL gene within 4kbp of the GNAL (CA)n repeat and ending just 5′ to exon 6. This gene encodes a putative 116 amino acid protein of unknown function. Since GNAL has not shown any changes associated with bipolar disease, we hypothesized that bipolar illness may result from genes in or around GNAL. We have sequenced this intronless gene in fourteen individuals with bipolar disease. These individuals were derived from fourteen families in the Bipolar Consortium dataset that had NPL scores over 1 in this region of chromosome 18 based on GeneHunter Plus analysis. These people represented those individuals with the highest likelihood of containing mutations or variants. No variant nucleotides were observed in this analysis.

Original languageEnglish (US)
Number of pages1
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Issue number7
StatePublished - Oct 8 2001

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience

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