Molecular analysis, mutation screening, and association study of adenylate cyclase type 9 gene (ADCY9) in mood disorders
| Autor: | Koji Saito, Joanne M.A. Meerabux, Tomoko Toyota, Haruo Shibuya, Takeo Yoshikawa, Kazuo Yamada, Masahiro Nankai, Eiji Hattori |
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| Rok vydání: | 2002 |
| Předmět: |
Male
Candidate gene Bipolar Disorder DNA Complementary Genotype DNA Mutational Analysis Molecular Sequence Data Single-nucleotide polymorphism Biology Exon medicine Humans Missense mutation Genetic Testing Genetics (clinical) Repetitive Sequences Nucleic Acid Genetics Depressive Disorder Polymorphism Genetic Base Sequence Adenylate Cyclase Type 9 ADCY9 Sequence Analysis DNA Middle Aged medicine.disease Molecular biology ADCY9 Gene Mood disorders Female Chromosomes Human Pair 16 Adenylyl Cyclases |
| Zdroj: | American Journal of Medical Genetics. 114:84-92 |
| ISSN: | 1096-8628 0148-7299 |
| Popis: | Chromosome 16p13 has been shown to display modest linkage signals for mood disorders in a number of studies. An interesting candidate gene in this region is the adenylate cyclase (AC) type 9 gene (ADCY9). ACs are critical in neuronal signaling, and perturbation of brain AC activity has been reported in mood disorder postmortem brains. ACs may also act as targets of antidepressants. Two distinct length transcripts for the ADCY9 gene have been reported, but molecular mechanisms are unknown. To investigate the potential role of ADCY9 in mood disorders, we clarified alternative poly(A) sites for the two mRNA species, delineated the exon-intron structure, and screened the gene for genetic variants. The two transcripts encoded by ADCY9 shared the first 10 exons, but exon 11 was shorter in one of the mRNA species. Seven single nucleotide polymorphisms, including a missense mutation and one polymorphic microsatellite repeat in the 3′-UTR, were identified. However, a case-control study using the missense polymorphism, 2316A > G (Ile772Met), and the tetranucleotide repeat (TTTA)n showed no significant association with mood disorders in Japanese samples. The DNA polymorphisms detected in this study can be tested in other ethnic samples and/or other psychiatric diseases. © 2002 Wiley-Liss, Inc. |
| Databáze: | OpenAIRE |
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