Editing TATA box (section)

=== Point mutations ===
Point mutations to the TATA box have similar varying [[Phenotype|phenotypic]] changes depending on the gene that is being affected. Studies also show that the placement of the [[mutation]] in the TATA box sequence hinders the binding of [[TATA-binding protein|TBP]].<ref name=":6" /> For example, a [[mutation]] from TATAAAA to CATAAAA does completely hinder the binding sufficiently to change [[Transcription (biology)|transcription]], the neighboring sequences can affect if there is a change or not.<ref>{{cite journal | vauthors = Fei YJ, Stoming TA, Efremov GD, Efremov DG, Battacharia R, Gonzalez-Redondo JM, Altay C, Gurgey A, Huisman TH | title = Beta-thalassemia due to a T----A mutation within the ATA box | journal = Biochemical and Biophysical Research Communications | volume = 153 | issue = 2 | pages = 741–7 | date = June 1988 | pmid = 3382401 | doi = 10.1016/S0006-291X(88)81157-4 }}</ref> However, a change can be seen in [[HeLa]] cells with a TATAAAA to TATACAA which leads to a 20 fold decrease in [[Transcription (biology)|transcription]].<ref>{{cite journal | vauthors = Bower GC | title = The award of the Will Ross Medal for 1978 | journal = The American Review of Respiratory Disease | year = 1978 | volume = 118 | issue = 3 | pages = 635–636 | pmid= 360896 }}</ref> Some diseases that can be caused due to this insufficiency by specific gene [[Transcription (biology)|transcription]] are:&nbsp; [[Thalassemia]],<ref name="pmid6583702">{{cite journal | vauthors = Antonarakis SE, Irkin SH, Cheng TC, Scott AF, Sexton JP, Trusko SP, Charache S, Kazazian HH | title = beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 81 | issue = 4 | pages = 1154–8 | year = 1984 | pmid = 6583702 | pmc = 344784 | doi =  10.1073/pnas.81.4.1154| bibcode = 1984PNAS...81.1154A | doi-access = free }}</ref> [[lung cancer]],<ref>{{cite journal | vauthors = Zienolddiny S, Ryberg D, Maggini V, Skaug V, Canzian F, Haugen A | title = Polymorphisms of the interleukin-1 beta gene are associated with increased risk of non-small cell lung cancer | journal = International Journal of Cancer | volume = 109 | issue = 3 | pages = 353–6 | date = April 2004 | pmid = 14961572 | doi = 10.1002/ijc.11695 | doi-access = free }}</ref> [[Hemolytic anemia|chronic hemolytic anemia]],<ref>{{cite journal | vauthors = Hildebrandt P | title = Subcutaneous absorption of insulin in insulin-dependent diabetic patients. Influence of species, physico-chemical properties of insulin and physiological factors | journal = Danish Medical Bulletin | volume = 38 | issue = 4 | pages = 337–46 | date = August 1991 | pmc = 1914533 | pmid=8571957}}</ref> [[immunosuppression]],<ref>{{cite journal | vauthors = Takahashi K, Ezekowitz RA | title = The role of the mannose-binding lectin in innate immunity | journal = Clinical Infectious Diseases | volume = 41 | pages = S440–4 | date = November 2005 | issue = Suppl 7 | pmid = 16237644 | doi = 10.1086/431987 | doi-access = free }}</ref> [[Haemophilia B|hemophilia B Leyden]],<ref>{{cite journal | vauthors = Sweet D, Golomb H, Desser R, Ultmann JE, Yachnin S, Stein R | title = Letter: Chemotherapy of advanced histocytic lymphomas | journal = Lancet | volume = 1 | issue = 7916 | pages = 6300–3 | date = May 1975 | pmc = 49488 | doi=10.1016/s0140-6736(75)92521-0 | pmid=1631121}}</ref> and [[thrombophlebitis]] and [[myocardial infarction]].<ref>{{cite journal | vauthors = Arnaud E, Barbalat V, Nicaud V, Cambien F, Evans A, Morrison C, Arveiler D, Luc G, Ruidavets JB, Emmerich J, Fiessinger JN, Aiach M | title = Polymorphisms in the 5' regulatory region of the tissue factor gene and the risk of myocardial infarction and venous thromboembolism: the ECTIM and PATHROS studies. Etude Cas-Témoins de l'Infarctus du Myocarde. Paris Thrombosis case-control Study | journal = Arteriosclerosis, Thrombosis, and Vascular Biology | volume = 20 | issue = 3 | pages = 892–8 | date = March 2000 | pmid = 10712418 | doi = 10.1161/01.ATV.20.3.892 | doi-access = free }}</ref>

Savinkova et al. has written a simulation to predict the ''[[Dissociation constant|K<sub>D</sub>]]'' value for a selected TATA box sequence and [[TATA-binding protein|TBP]].<ref name=":1">{{cite journal | vauthors = Savinkova L, Drachkova I, Arshinova T, Ponomarenko P, Ponomarenko M, Kolchanov N | title = An experimental verification of the predicted effects of promoter TATA-box polymorphisms associated with human diseases on interactions between the TATA boxes and TATA-binding protein | journal = PLOS ONE | volume = 8 | issue = 2 | pages = e54626 | date = 2013 | pmid = 23424617 | pmc = 3570547 | doi = 10.1371/journal.pone.0054626 | bibcode = 2013PLoSO...854626S | doi-access = free }}</ref> This can be used to directly predict the [[Phenotype|phenotypic]] traits resulting from a selected [[mutation]] based on how tightly [[TATA-binding protein|TBP]] is binding to the TATA box.