Editing Transcription factor (section)

=== Disorders ===
Due to their important roles in development, intercellular signaling, and cell cycle, some human diseases have been associated with [[mutation]]s in transcription factors.<ref name="isbn0-19-511239-3">{{Cite book | vauthors = Semenza GL  |url= https://archive.org/details/transcriptionfac00seme |title=Transcription factors and human disease |publisher=Oxford University Press |year=1999 |isbn=978-0-19-511239-9 |location=Oxford [Oxfordshire] |url-access=registration}}</ref>

Many transcription factors are either [[tumor suppressor]]s or [[oncogene]]s, and, thus, mutations or aberrant regulation of them is associated with cancer. Three groups of transcription factors are known to be important in human cancer: (1) the [[NF-kappaB]] and [[AP-1 transcription factor|AP-1]] families, (2) the [[STAT protein|STAT]] family and (3) the [[steroid hormone receptor|steroid receptors]].<ref name="pmid16475943">{{Cite journal |vauthors=Libermann TA, Zerbini LF |date=February 2006 |title=Targeting transcription factors for cancer gene therapy |journal=Current Gene Therapy |volume=6 |issue=1 |pages=17–33 |doi=10.2174/156652306775515501 |pmid=16475943}}</ref>

Below are a few of the better-studied examples:

{| class="wikitable"
|-
! Condition
! Description
! Locus
|-
| [[Rett syndrome]]
| Mutations in the [[MECP2]] transcription factor are associated with [[Rett syndrome]], a neurodevelopmental disorder.<ref name="pmid16647848">{{Cite journal |vauthors=Moretti P, Zoghbi HY |date=June 2006 |title=MeCP2 dysfunction in Rett syndrome and related disorders |journal=Current Opinion in Genetics & Development |volume=16 |issue=3 |pages=276–81 |doi=10.1016/j.gde.2006.04.009 |pmid=16647848}}</ref><ref name="pmid17317146">{{Cite journal |vauthors=Chadwick LH, Wade PA |date=April 2007 |title=MeCP2 in Rett syndrome: transcriptional repressor or chromatin architectural protein? |url=https://zenodo.org/record/1258987 |url-status=live |journal=Current Opinion in Genetics & Development |volume=17 |issue=2 |pages=121–5 |doi=10.1016/j.gde.2007.02.003 |pmid=17317146 |archive-url=https://web.archive.org/web/20231002233545/https://zenodo.org/record/1258987 |archive-date=Oct 2, 2023 |via=Zenodo}}</ref>
| Xq28
|-
| [[Diabetes]]
| A rare form of [[diabetes]] called [[MODY]] (Maturity onset diabetes of the young) can be caused by mutations in [[hepatocyte nuclear factors]] (HNFs)<ref name="pmid17923767">{{Cite book |title=Distinct roles of HNF1beta, HNF1alpha, and HNF4alpha in regulating pancreas development, beta-cell function and growth |vauthors=Maestro MA, Cardalda C, Boj SF, Luco RF, Servitja JM, Ferrer J |publisher=Karger Medical and Scientific Publishers |year=2007 |isbn=978-3-8055-8385-5 |series=Endocrine Development |volume=12 |pages=33–45 |chapter=Distinct Roles of HNF1 Β , HNF1 α , and HNF4 α in Regulating Pancreas Development, Β -Cell Function and Growth |doi=10.1159/000109603 |pmid=17923767 |chapter-url=https://books.google.com/books?id=AzvFFxY-3CMC&pg=PA33}}</ref> or [[Pdx1|insulin promoter factor-1]] (IPF1/Pdx1).<ref name="pmid18360684">{{Cite journal |vauthors=Al-Quobaili F, Montenarh M |date=April 2008 |title=Pancreatic duodenal homeobox factor-1 and diabetes mellitus type 2 (review) |url=http://www.spandidos-publications.com/ijmm/article.jsp?article_id=ijmm_21_4_399 |url-status=live |journal=International Journal of Molecular Medicine |volume=21 |issue=4 |pages=399–404 |doi=10.3892/ijmm.21.4.399 |pmid=18360684 |archive-url=https://web.archive.org/web/20231002232026/https://www.spandidos-publications.com/ijmm/21/4/399/abstract |archive-date=Oct 2, 2023 |doi-access=free}}</ref>
| multiple
|-
| [[Apraxia of speech#Childhood apraxia of speech|Developmental verbal dyspraxia]]
| Mutations in the [[FOXP2]] transcription factor are associated with [[Apraxia of speech#Childhood apraxia of speech|developmental verbal dyspraxia]], a disease in which individuals are unable to produce the finely coordinated movements required for speech.<ref name="pmid17330859">{{Cite journal |vauthors=Lennon PA, Cooper ML, Peiffer DA, Gunderson KL, Patel A, Peters S, Cheung SW, Bacino CA |date=April 2007 |title=Deletion of 7q31.1 supports involvement of ''FOXP2'' in language impairment: clinical report and review |journal=American Journal of Medical Genetics. Part A |volume=143A |issue=8 |pages=791–8 |doi=10.1002/ajmg.a.31632 |pmid=17330859 |s2cid=22021740}}</ref>
| 7q31
|-
| [[Autoimmune diseases]]
| Mutations in the [[FOXP3]] transcription factor cause a rare form of [[autoimmune disease]] called [[IPEX (syndrome)|IPEX]].<ref name="pmid18317533">{{Cite journal |vauthors=van der Vliet HJ, Nieuwenhuis EE |year=2007 |title=IPEX as a result of mutations in FOXP3 |journal=Clinical & Developmental Immunology |volume=2007 |pages=1–5 |doi=10.1155/2007/89017 |pmc=2248278 |pmid=18317533 |doi-access=free}}</ref>
| Xp11.23-q13.3
|-
| [[Li-Fraumeni syndrome]]
| Caused by mutations in the tumor suppressor [[p53 (protein)|p53]].<ref name="pmid15917654">{{Cite journal |vauthors=Iwakuma T, Lozano G, Flores ER |date=July 2005 |title=Li-Fraumeni syndrome: a p53 family affair |journal=Cell Cycle |volume=4 |issue=7 |pages=865–7 |doi=10.4161/cc.4.7.1800 |pmid=15917654 |doi-access=free}}</ref>
| 17p13.1
|-
| [[Breast cancer]]
| The [[STAT protein|STAT]] family is relevant to [[breast cancer]].<ref>{{Cite journal |vauthors=Clevenger CV |date=November 2004 |title=Roles and Regulation of Stat Family Transcription Factors in Human Breast Cancer |journal=American Journal of Pathology |type=Review |volume=165 |issue=5 |pages=1449–1460 |doi=10.1016/S0002-9440(10)63403-7 |pmc=1618660 |pmid=15509516 |doi-access=free}}</ref>
| multiple
|-
| Multiple cancers
| The [[HOX gene|HOX]] family are involved in a variety of cancers.<ref>{{Cite web |title="Transcription factors as targets and markers in cancer" Workshop 2007 |url=http://www.ias.surrey.ac.uk/reports/hox-report.html |url-status=dead |archive-url=https://web.archive.org/web/20120525104734/http://www.ias.surrey.ac.uk/reports/hox-report.html |archive-date=25 May 2012 |access-date=14 December 2009}}</ref>
| multiple
|-
|[[Osteoarthritis]]
|[[Mutation]] or reduced activity of [[SOX9]]<ref>{{Cite journal |vauthors=Govindaraj K, Hendriks J, Lidke DS, Karperien M, Post JN |date=January 2019 |title=Changes in Fluorescence Recovery After Photobleaching (FRAP) as an indicator of SOX9 transcription factor activity |journal=Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms |volume=1862 |issue=1 |pages=107–117 |doi=10.1016/j.bbagrm.2018.11.001 |pmid=30465885 |doi-access=free}}</ref>
|
|}