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. We have assembled 17 mB of finished and unfinished sequence from the Human Genome Project to cover an approximately 15 cM region spanning the 13q32 region of chromosome 13 implicated by linkage analysis in both bipolar disorder and schizophrenia. We have identified more than 40 genes within this region. We have obtained full length or nearly full length cDNAs for a number of new genes. We characterized the cDNAs of a putative schizophrenia gene, G72, and found a variety of alternatively spliced transcripts whose predicted protein sequences differed markedly from those previously described. We have also characterized the structure of brain transcripts, both fetal and adult, of the DOCK9 gene, a primary candidate gene from recent association studies.

Agency
National Institute of Health (NIH)
Institute
National Institute of Mental Health (NIMH)
Type
Intramural Research (Z01)
Project #
1Z01MH002774-07
Application #
7139657
Study Section
(LG)
Project Start
Project End
Budget Start
Budget End
Support Year
7
Fiscal Year
2005
Total Cost
Indirect Cost
Name
U.S. National Institute of Mental Health
Department
Type
DUNS #
City
State
Country
United States
Zip Code
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
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