The mechanism by which TATA-box polymorphisms associated with human hereditary diseases influence interactions with the TATA-binding protein

Human Mutation
Irina DrachkovaNikolay Kolchanov


SNPs in ТАТА boxes are the cause of monogenic diseases, contribute to a large number of complex diseases, and have implications for human sensitivity to external and internal environmental signals. The aim of this work was to explore the kinetic characteristics of the formation of human ТВР complexes with ТАТА boxes, in which the SNPs are associated with β-thalassemias of diverse severity, immunosuppression, neurological disorders, and so on. It has for the first time been demonstrated, using an electrophoretic mobility shift assay, that TBP interacts with SNP-containing ТАТА boxes with a significant (8-36-fold) decrease in TBP/ТАТА association rate constant (ka ) as compared with that in healthy people, a smaller decrease in dissociation rate constant (kd ) and changes in the half-lives of TBP/ТАТА complexes. Carriers of the -24G allele (rs 1800202T>G) in the TATA box of the triosephosphate isomerase gene promoter, associated with neurological and muscular disorders, were observed to have a 36-fold decrease in TBP/TATA association rate constant that are consistent with TPI deficiency shown for patients who carry this defective allele. The kinetic characteristics of TBP/ТАТА complexes obtained suggest that, at a molecular level...Continue Reading


Aug 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·S HahnL Guarente
Jul 25, 1983·Nucleic Acids Research·S H OrkinH H Kazazian
Feb 1, 1984·Proceedings of the National Academy of Sciences of the United States of America·S E AntonarakisH H Kazazian
Dec 5, 1995·Proceedings of the National Academy of Sciences of the United States of America·E MartinezR G Roeder
Apr 29, 1996·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·Robert Tjian
Sep 1, 1996·Trends in Biochemical Sciences·C P Verrijzer, Robert Tjian
Jun 29, 2000·Baillière's Clinical Haematology·J FlintJ B Clegg
Jun 13, 2001·The Journal of Biological Chemistry·Jennifer J Stewart, Laurie A Stargell
Mar 16, 2002·European Journal of Biochemistry·Padraic P Levings, Jörg Bungert
Nov 2, 2002·Molecular Biology and Evolution·Matthew V Rockman, Gregory A Wray
Dec 25, 2002·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Yue WangMasao Omata
Nov 14, 2003·Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America·Damon P Eisen, Robyn M Minchinton
Feb 13, 2004·International Journal of Cancer. Journal International Du Cancer·Shanbeh ZienolddinyAage Haugen
Jul 1, 2005·Nature·Tae Hoon KimBing Ren
Jun 15, 2006·The Journal of Biological Chemistry·Jennifer J StewartLaurie A Stargell
Jul 25, 2006·Critical Reviews in Biochemistry and Molecular Biology·Mary C Thomas, Cheng-Ming Chiang
May 29, 2008·Doklady. Biochemistry and Biophysics·Petr PonomarenkoNikolay Kolchanov
Oct 15, 2008·Molecular Cell·Maria Divina E DeatoRobert Tjian
Apr 1, 2009·The Journal of Cell Biology·Christoffel DinantRoel van Driel
Jul 14, 2009·International Journal of Gynaecology and Obstetrics : the Official Organ of the International Federation of Gynaecology and Obstetrics·Supatra SirichotiyakulTheera Tongsong
Jan 26, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Antonio Cao, Renzo Galanello
May 25, 2010·Orphanet Journal of Rare Diseases·Renzo Galanello, Raffaella Origa
Jul 16, 2010·Journal of Cell Science·Petra de GraafH Th Marc Timmers
Mar 23, 2011·Current Opinion in Genetics & Development·Gabor PapaiPatrick Schultz


Dec 10, 2015·Journal of Biosciences·Elena V AntontsevaTatiana I Merkulova

Related Concepts

Early Promoters, Genetic
Transcription Factor
Triose-Phosphate Isomerase
Single Nucleotide Polymorphism
Genetic Diseases, Inborn
TATA-Box Binding Protein
Hereditary Diseases

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