Editing TATA box (section)

=== Diseases ===
[[Mutation]]s in the TATA box region affects the binding of the [[TATA-binding protein|TATA-binding protein (TBP)]] for transcription initiation, which may cause carriers to have a [[disease]] [[phenotype]].

[[Stomach cancer|Gastric cancer]] is correlated with TATA box [[Polymorphism (biology)|polymorphism]].<ref>{{cite journal| vauthors = De Re V, Magris R, De Zorzi M, Maiero S, Caggiari L, Fornasarig M, Repetto O, Buscarini E, Di Mario F | title = P.08.10: Interference of PG2 Tata Box Region with the Serum PG2 Level in Gastric Cancer|journal=Digestive and Liver Disease|volume=49|pages=e182–e183 | doi=10.1016/s1590-8658(17)30534-0| year=2017| s2cid = 79101992}}</ref> The TATA box has a binding site for the [[transcription factor]] of the PG2 gene. This gene produces PG2 serum, which is used as a [[biomarker]] for [[Neoplasm|tumours]] in gastric cancer. Longer TATA box sequences correlates with higher levels of PG2 serum indicating gastric cancer conditions. Carriers with shorter TATA box sequences may produce lower levels of PG2 serum.

Several [[neurodegenerative disorders]] are associated TATA box mutations.<ref>{{cite journal | vauthors = Roshan R, Choudhary A, Bhambri A, Bakshi B, Ghosh T, Pillai B | title = microRNA dysregulation in polyglutamine toxicity of TATA-box binding protein is mediated through STAT1 in mouse neuronal cells | journal = Journal of Neuroinflammation | volume = 14 | issue = 1 | pages = 155 | date = August 2017 | pmid = 28774347 | doi = 10.1186/s12974-017-0925-3 | pmc=5543588 | doi-access = free }}</ref> Two disorders have been highlighted, [[spinocerebellar ataxia]] and [[Huntington's disease]]. In spinocerebellar ataxia, the disease phenotype is caused by expansion of the polyglutamine repeat in the [[TATA-binding protein|TATA-binding protein (TBP)]]. An accumulation of these polyglutamine-TBP cells will occur, as shown by protein aggregates in brain sections of patients, resulting in a loss of [[Neuron|neuronal cells]].

[[Visual impairment|Blindness]] can be caused by excessive [[cataract]] formation when the TATA box is targeted by [[microRNA]]s to increase the level of oxidative stress genes.<ref>{{cite journal | vauthors = Wu C, Liu Z, Ma L, Pei C, Qin L, Gao N, Li J, Yin Y | title = MiRNAs regulate oxidative stress related genes via binding to the 3' UTR and TATA-box regions: a new hypothesis for cataract pathogenesis | journal = BMC Ophthalmology | volume = 17 | issue = 1 | pages = 142 | date = August 2017 | pmid = 28806956 | doi = 10.1186/s12886-017-0537-9 | pmc=5556341 | doi-access = free }}</ref> MicroRNAs can target the [[Three prime untranslated region|3'-untranslated region]] and bind to the TATA box to activate the [[Transcription (biology)|transcription]] of oxidative stress related genes.

[[Single-nucleotide polymorphism|SNPs]] in TATA boxes are associated with [[Thalassemia|B-thalassemia]], [[immunosuppression]], and other [[neurological disorder]]s.<ref>{{cite journal | vauthors = Drachkova I, Savinkova L, Arshinova T, Ponomarenko M, Peltek S, Kolchanov N | title = The mechanism by which TATA-box polymorphisms associated with human hereditary diseases influence interactions with the TATA-binding protein | journal = Human Mutation | volume = 35 | issue = 5 | pages = 601–8 | date = May 2014 | pmid = 24616209 | doi = 10.1002/humu.22535 | s2cid = 19928327 | doi-access = free }}</ref> [[Single-nucleotide polymorphism|SNPs]] destabilize the TBP/TATA complex which significantly decreases the rate at which [[TATA-binding protein|TATA-binding proteins (TBP)]] will bind to the TATA box. This leads to lower levels of [[Transcription (biology)|transcription]] affecting the severity of the disease. Results from studies have shown the interaction in vitro so far, but results may be comparable to that in vivo.

[[Gilbert's syndrome]] is correlated with UTG1A1 TATA box [[Polymorphism (biology)|polymorphism]].<ref>{{cite journal | vauthors = Žaja O, Tiljak MK, Štefanović M, Tumbri J, Jurčić Z | title = Correlation of UGT1A1 TATA-box polymorphism and jaundice in breastfed newborns-early presentation of Gilbert's syndrome | journal = The Journal of Maternal-Fetal & Neonatal Medicine | volume = 27 | issue = 8 | pages = 844–50 | date = May 2014 | pmid = 23981182 | doi = 10.3109/14767058.2013.837879 | s2cid = 29893463 }}</ref> This poses a risk for developing jaundice in newborns.

[[MicroRNA]]s also play a role in replicating [[virus]]es such as [[Subtypes of HIV|HIV-1]].<ref>{{cite journal | vauthors = Zhang Y, Fan M, Geng G, Liu B, Huang Z, Luo H, Zhou J, Guo X, Cai W, Zhang H | title = A novel HIV-1-encoded microRNA enhances its viral replication by targeting the TATA box region | journal = Retrovirology | volume = 11 | pages = 23 | date = March 2014 | pmid = 24620741 | pmc = 4007588 | doi = 10.1186/1742-4690-11-23 | doi-access = free }}</ref> Novel HIV-1-encoded microRNA have been found to enhance the production of the virus as well as activating HIV-1 latency by targeting the TATA box region.