title: TATA box polymorphisms in human gene promoters and associated hereditary pathologies.
abstract: 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 transcription. 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.
authors.affiliation: Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia. icg-adm@bionet.nsc.ru
authors.forename: L K
authors.initials: LK
authors.lastname: Savinkova
authors.forename: M P
authors.initials: MP
authors.lastname: Ponomarenko
authors.forename: P M
authors.initials: PM
authors.lastname: Ponomarenko
authors.forename: I A
authors.initials: IA
authors.lastname: Drachkova
authors.forename: M V
authors.initials: MV
authors.lastname: Lysova
authors.forename: T V
authors.initials: TV
authors.lastname: Arshinova
authors.forename: N A
authors.initials: NA
authors.lastname: Kolchanov
mesh_terms: D030342:Genetic Diseases, Inborn / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D012319:RNA Polymerase II / Q000235:genetics; D016385:TATA Box; D035181:TATA-Box Binding Protein / Q000235:genetics*
chemical_list: D035181:TATA-Box Binding Protein; D012319:RNA Polymerase II