Biochemistry (Moscow)

, Volume 74, Issue 2, pp 117–129

TATA box polymorphisms in human gene promoters and associated hereditary pathologies

Authors

    • Institute of Cytology and GeneticsSiberian Branch of the Russian Academy of Sciences
  • M. P. Ponomarenko
    • Institute of Cytology and GeneticsSiberian Branch of the Russian Academy of Sciences
  • P. M. Ponomarenko
    • Novosibirsk State University
  • I. A. Drachkova
    • Institute of Cytology and GeneticsSiberian Branch of the Russian Academy of Sciences
  • M. V. Lysova
    • Institute of Cytology and GeneticsSiberian Branch of the Russian Academy of Sciences
  • T. V. Arshinova
    • Institute of Cytology and GeneticsSiberian Branch of the Russian Academy of Sciences
  • N. A. Kolchanov
    • Institute of Cytology and GeneticsSiberian Branch of the Russian Academy of Sciences
    • Novosibirsk State University
Review

DOI: 10.1134/S0006297909020011

Cite this article as:
Savinkova, L.K., Ponomarenko, M.P., Ponomarenko, P.M. et al. Biochemistry Moscow (2009) 74: 117. doi:10.1134/S0006297909020011

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 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.

Key words

TATA boxgene expressionSNPhereditary pathologies

Abbreviations

SNP

single nucleotide polymorphisms (single nucleotide substitutions in genomic DNA)

TBP

TATA-binding protein

TF

transcription factor

TPI

triosephosphate isomerase gene

UCP

uncoupling protein

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© Pleiades Publishing, Ltd. 2009