TATA box polymorphisms in human gene promoters and associated hereditary pathologies
| Autor: | M. V. Lysova, Ludmila Savinkova, Nikolay A. Kolchanov, I. A. Drachkova, Mikhail P. Ponomarenko, T. V. Arshinova, P. M. Ponomarenko |
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| Rok vydání: | 2009 |
| Předmět: |
TATA box
Biophysics RNA polymerase II Biology Biochemistry Biochemistry Genetics and Molecular Biology (miscellaneous) Polymorphism Single Nucleotide Transcription (biology) Gene expression Humans Genetic Predisposition to Disease Promoter Regions Genetic Gene Genetics Regulation of gene expression Genetic Diseases Inborn Promoter TAF9 General Medicine TATA-Box Binding Protein Molecular biology TATA Box Mutation biology.protein RNA Polymerase II Geriatrics and Gerontology |
| Zdroj: | Biochemistry. Biokhimiia. 74(2) |
| ISSN: | 1608-3040 |
| Popis: | TATA-binding protein (TBP) is the first basal factor that recognizes and binds a TATA box on TATA-containing gene promoters transcribed by RNA polymerase II. Data available in the literature are indicative of admissible variability of the TATA box. The TATA box flanking sequences can influence TBP affinity as well as the level of basal and activated tran-scription. The possibility of mediated involvement in in vivo gene expression regulation of the TBP interactions with variant TATA boxes is supported by data on TATA box polymorphisms and associated human hereditary pathologies. A table containing data on TATA element polymorphisms in human gene promoters (about 40 mutations have been described), associated with particular pathologies, their short functional characteristics, and manifestation mechanisms of TATA-box SNPs is presented. Four classes of polymorphisms are considered: TATA box polymorphisms that weaken and enhance promoter, polymorphisms causing TATA box emergence and disappearance, and human virus TATA box polymorphisms. The described examples are indicative of the polymorphism-associated severe pathologies like thalassemia, the increased risk of hepatocellular carcinoma, sensitivity to H. pylori infection, oral cavity and lung cancers, arterial hypertension, etc. |
| Databáze: | OpenAIRE |
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