Genetic Diversity of the Human Serotonin Receptor 1B (HTR1B) Gene
| Autor: | Tamara E. Levin, Judith A. Badner, Katherine A. Walczyk, Bryan J. Mowry, Saitou Naruya, Qiuhe Cao, Douglas F. Levinson, Raymond R. Crowe, Jennifer M. Taylor, Amado Del Rosario, Debra Salvi, Alan R. Sanders, Jeremy M. Silverman, Josep M. Comeron, Pablo V. Gejman, Anibal Cravchik |
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| Rok vydání: | 2001 |
| Předmět: |
Electrophoresis
Genetic Markers Linkage disequilibrium Databases Factual Molecular Sequence Data Single-nucleotide polymorphism Biology Polymorphism Single Nucleotide Linkage Disequilibrium Evolution Molecular Molecular evolution Polymorphism (computer science) Ethnicity Genetics Humans Missense mutation Amino Acid Sequence RNA Messenger Gene Alleles Racial Groups Haplotype Nucleic acid sequence Genetic Variation Sequence Analysis DNA Amino Acid Substitution Haplotypes Receptors Serotonin Receptor Serotonin 5-HT1B Schizophrenia Nucleic Acid Conformation Polymorphism Restriction Fragment Length |
| Zdroj: | Genomics. 72:1-14 |
| ISSN: | 0888-7543 |
| DOI: | 10.1006/geno.2000.6411 |
| Popis: | We systematically and comprehensively investigated polymorphisms of the HTR1B gene as well as their linkage disequilibrium and ancestral relationships. We have detected the following polymorphisms in our sample via denaturing gradient gel electrophoresis, database comparisons, and/or previously published assays: G-511T, T-261G, -182INS/DEL-181, A-161T, C129T, T371G, T655C, C705T, G861C, A1099G, G1120A, and A1180G. The results of the intermarker analyses showed strong linkage disequilibrium between the C129T and the G861C polymorphisms and revealed four common haplotypes: ancestral (via chimpanzee comparisons), 129T/861C, -161T, and -182DEL-181. The results of association tests with schizophrenia were negative, although A-161T had a nominal P = 0.04 via AS-PEX/sib_tdt. The expressed missense substitutions, Phe124Cys, Phe219Leu, Ile367Val, and Glu374Lys, could potentially affect ligand binding or interaction with G proteins and thus modify drug response in carriers of these variants. On average, the human cSNPs and differences among other primates clustered in the more thermodynamically unstable regions of the mRNA, which suggests that the evolutionary survival of nucleotide sequence variation may be influenced by the mRNA structure of this gene, (C) 2001 Academic Press. |
| Databáze: | OpenAIRE |
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