Abstract

We focus on identifying candidate genes in restricted regions of the genome identified by linkage studies of complex genetic diseases, i.e. those which are not expected to show perfect cosegregation with any single locus. With our collaborators in NHGRI, we have identified transcripts in the vicinity of HPC1, a gene for early onset prostate cancer, and have obtained full-length cDNAs for more than ten new genes. Among these new genes is an extracellular matrix protein with an 18 kb cDNA and over 100 exons. We expect to apply these methods to loci for bipolar disorder and schizophrenia as promising candidate regions become available. As a first step in this direction we have characterized the gene for a brain-specific calmodulin-dependent protein kinase which is located in the 1q32 region implicated in recent studies of both bipolar disorder and schizophrenia. - positional cloning, complex genetic diseases - Neither Human Subjects nor Human Tissues

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Mental Health (NIMH)
Type
Intramural Research (Z01)
Project #
1Z01MH002774-01
Application #
6228060
Study Section
Special Emphasis Panel (LG)
Project Start
Project End
Budget Start
Budget End
Support Year
1
Fiscal Year
1999
Total Cost
Indirect Cost

  Institution

Name
U.S. National Institute of Mental Health
Department
Type
DUNS #
City
State
Country
United States
Zip Code

  Publications

Ferraren, Dilberto O; Liu, Chunyu; Badner, Judith A et al. (2005) Linkage disequilibrium analysis in the LOC93081-KDELC1-BIVM region on 13q in bipolar disorder. Am J Med Genet B Neuropsychiatr Genet 133:12-7
Hattori, Eiji; Liu, Chunyu; Badner, Judith A et al. (2003) Polymorphisms at the G72/G30 gene locus, on 13q33, are associated with bipolar disorder in two independent pedigree series. Am J Hum Genet 72:1131-40
Liu, Chunyu; Bonner, Tom I; Nguyen, Tu et al. (2003) DNannotator: Annotation software tool kit for regional genomic sequences. Nucleic Acids Res 31:3729-35
Bowery, N G; Bettler, B; Froestl, W et al. (2002) International Union of Pharmacology. XXXIII. Mammalian gamma-aminobutyric acid(B) receptors: structure and function. Pharmacol Rev 54:247-64
Stephan, Dietrich A; Howell, Gareth R; Teslovich, Tanya M et al. (2002) Physical and transcript map of the hereditary prostate cancer region at xq27. Genomics 79:41-50
Spedding, M; Bonner, T I; Watson, S P (2002) International Union of Pharmacology. XXXI. Recommendations for the nomenclature of multimeric G protein-coupled receptors. Pharmacol Rev 54:231-2
Sood, R; Bonner, T I; Makalowska, I et al. (2001) Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus. Genomics 73:211-22
Carpten, J D; Makalowska, I; Robbins, C M et al. (2000) A 6-Mb high-resolution physical and transcription map encompassing the hereditary prostate cancer 1 (HPC1) region. Genomics 64:14-Jan
Sood, R; Makalowska, I; Carpten, J D et al. (2000) The human RGL (RalGDS-like) gene: cloning, expression analysis and genomic organization. Biochim Biophys Acta 1491:285-8