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Transcription Factor Binding Site Deletion Mutation

MedGen UID:
1662030
Concept ID:
C4725194
Cell or Molecular Dysfunction
Synonym: TFBS Ablation

Definition

A deletion mutation where the deleted sequence includes a transcription factor binding site for a gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTranscription Factor Binding Site Deletion Mutation

Professional guidelines

PubMed

Dingemans AJM, Truijen KMG, van de Ven S, Bernier R, Bongers EMHF, Bouman A, de Graaff-Herder L, Eichler EE, Gerkes EH, De Geus CM, van Hagen JM, Jansen PR, Kerkhof J, Kievit AJA, Kleefstra T, Maas SM, de Man SA, McConkey H, Patterson WG, Dobson AT, Prijoles EJ, Sadikovic B, Relator R, Stevenson RE, Stumpel CTRM, Heijligers M, Stuurman KE, Löhner K, Zeidler S, Lee JA, Lindy A, Zou F, Tedder ML, Vissers LELM, de Vries BBA
Transl Psychiatry 2022 Oct 1;12(1):421. doi: 10.1038/s41398-022-02189-1. PMID: 36182950Free PMC Article
Kyryachenko S, Georges A, Yu M, Barrandou T, Guo L, Bruneval P, Rubio T, Gronwald J, Baraki H, Kutschka I, Aras KK, Efimov IR, Norris RA, Voigt N, Bouatia-Naji N
Circ Res 2021 Mar 5;128(5):e84-e101. Epub 2021 Jan 28 doi: 10.1161/CIRCRESAHA.120.317581. PMID: 33508947Free PMC Article
Shin S, Hwang IS, Lee ST, Choi JR
Breast Cancer Res Treat 2016 Aug;158(3):433-40. Epub 2016 Jul 6 doi: 10.1007/s10549-016-3891-z. PMID: 27383479

Recent clinical studies

Etiology

Watanabe N, Nakano M, Mitsuishi Y, Hara N, Mano T, Iwata A, Murayama S, Suzuki T, Ikeuchi T, Nishimura M
Hum Mol Genet 2021 Dec 17;31(1):122-132. doi: 10.1093/hmg/ddab226. PMID: 34378027
Le Hingrat Q, Visseaux B, Bertine M, Chauveau L, Schwartz O, Collin F, Damond F, Matheron S, Descamps D, Charpentier C
J Virol 2020 Mar 17;94(7) doi: 10.1128/JVI.01504-19. PMID: 31915276Free PMC Article
Siper PM, De Rubeis S, Trelles MDP, Durkin A, Di Marino D, Muratet F, Frank Y, Lozano R, Eichler EE, Kelly M, Beighley J, Gerdts J, Wallace AS, Mefford HC, Bernier RA, Kolevzon A, Buxbaum JD
Mol Autism 2017;8:57. Epub 2017 Oct 24 doi: 10.1186/s13229-017-0172-6. PMID: 29090079Free PMC Article
Pappas K, Xu J, Zairis S, Resnick-Silverman L, Abate F, Steinbach N, Ozturk S, Saal LH, Su T, Cheung P, Schmidt H, Aaronson S, Hibshoosh H, Manfredi J, Rabadan R, Parsons R
Mol Cancer Res 2017 Aug;15(8):1051-1062. Epub 2017 May 8 doi: 10.1158/1541-7786.MCR-17-0089. PMID: 28483946Free PMC Article
Mellon SH, Bair SR, Depoix C, Vigne JL, Hecht NB, Brake PB
Mol Endocrinol 2007 Jan;21(1):89-105. Epub 2006 Oct 19 doi: 10.1210/me.2005-0355. PMID: 17053042

Diagnosis

Xiao S, Kai Z, Murphy D, Li D, Patel D, Bielowka AM, Bernabeu-Herrero ME, Abdulmogith A, Mumford AD, Westbury SK, Aldred MA, Vargesson N, Caulfield MJ; Genomics England Research Consortium, Shovlin CL
Am J Hum Genet 2023 Nov 2;110(11):1903-1918. Epub 2023 Oct 9 doi: 10.1016/j.ajhg.2023.09.005. PMID: 37816352Free PMC Article
Wood KA, Ellingford JM, Thomas HB; Genomics UK Research Consortium, Douzgou S, Beaman GM, Hobson E, Prescott K, O'Keefe RT, Newman WG
Clin Genet 2022 Feb;101(2):255-259. Epub 2021 Nov 5 doi: 10.1111/cge.14082. PMID: 34713892
Li L, Wang N, Zhu M, Xiong Y, Wang F, Guo G, Wang X, Gu Y
Cell Death Dis 2021 Aug 6;12(8):777. doi: 10.1038/s41419-021-04060-5. PMID: 34362881Free PMC Article
Siper PM, De Rubeis S, Trelles MDP, Durkin A, Di Marino D, Muratet F, Frank Y, Lozano R, Eichler EE, Kelly M, Beighley J, Gerdts J, Wallace AS, Mefford HC, Bernier RA, Kolevzon A, Buxbaum JD
Mol Autism 2017;8:57. Epub 2017 Oct 24 doi: 10.1186/s13229-017-0172-6. PMID: 29090079Free PMC Article
Besnard V, Xu Y, Whitsett JA
Am J Physiol Lung Cell Mol Physiol 2007 Dec;293(6):L1395-405. Epub 2007 Sep 21 doi: 10.1152/ajplung.00275.2007. PMID: 17890326

Therapy

Shiroma Y, Takahashi RU, Yamamoto Y, Tahara H
Cancer Sci 2020 Apr;111(4):1058-1064. Epub 2020 Mar 24 doi: 10.1111/cas.14355. PMID: 32073717Free PMC Article
Bushweller JH
Nat Rev Cancer 2019 Nov;19(11):611-624. Epub 2019 Sep 11 doi: 10.1038/s41568-019-0196-7. PMID: 31511663Free PMC Article
Niu C, Chen Z, Kim KT, Sun J, Xue M, Chen G, Li S, Shen Y, Zhu Z, Wang X, Liang J, Jiang C, Cong W, Jin L, Li X
Autophagy 2019 May;15(5):843-870. Epub 2019 Jan 27 doi: 10.1080/15548627.2019.1569913. PMID: 30653446Free PMC Article
Stepanchick A, Zhi H, Cavanaugh AH, Rothblum K, Schneider DA, Rothblum LI
J Biol Chem 2013 Mar 29;288(13):9135-44. Epub 2013 Feb 7 doi: 10.1074/jbc.M112.444265. PMID: 23393135Free PMC Article
Apergis GA, Crawford N, Ghosh D, Steppan CM, Vorachek WR, Wen P, Locker J
J Biol Chem 1998 Jan 30;273(5):2917-25. doi: 10.1074/jbc.273.5.2917. PMID: 9446603

Prognosis

Ye XC, Roslin NM, Paterson AD, Lyons CJ, Pegado V, Richmond P, Shyr C, Fornes O, Han X, Higginson M, Ross CJ, Giaschi D, Gregory-Evans C, Patel MS, Wasserman WW
J Med Genet 2022 Jan;59(1):46-55. Epub 2020 Nov 30 doi: 10.1136/jmedgenet-2020-107226. PMID: 33257509Free PMC Article
Mohamed Sa'dom SAF, Raikundalia S, Shamsuddin S, See Too WC, Few LL
Genes (Basel) 2021 Jun 1;12(6) doi: 10.3390/genes12060853. PMID: 34205960Free PMC Article
Xi W, Beer MA
Nat Commun 2021 Feb 16;12(1):1046. doi: 10.1038/s41467-021-21368-0. PMID: 33594051Free PMC Article
Zhang MQ, Zhao Q, Zhang JP
Autophagy 2020 Dec;16(12):2167-2179. Epub 2020 Jan 29 doi: 10.1080/15548627.2020.1719681. PMID: 31996071Free PMC Article
Chistiakov DA, Killingsworth MC, Myasoedova VA, Orekhov AN, Bobryshev YV
Lab Invest 2017 Jan;97(1):4-13. Epub 2016 Nov 21 doi: 10.1038/labinvest.2016.116. PMID: 27869795

Clinical prediction guides

Ye XC, Roslin NM, Paterson AD, Lyons CJ, Pegado V, Richmond P, Shyr C, Fornes O, Han X, Higginson M, Ross CJ, Giaschi D, Gregory-Evans C, Patel MS, Wasserman WW
J Med Genet 2022 Jan;59(1):46-55. Epub 2020 Nov 30 doi: 10.1136/jmedgenet-2020-107226. PMID: 33257509Free PMC Article
Wang CM, Yang WH, Cardoso L, Gutierrez N, Yang RH, Yang WH
Int J Mol Sci 2021 Oct 22;22(21) doi: 10.3390/ijms222111400. PMID: 34768829Free PMC Article
Zhang MQ, Zhao Q, Zhang JP
Autophagy 2020 Dec;16(12):2167-2179. Epub 2020 Jan 29 doi: 10.1080/15548627.2020.1719681. PMID: 31996071Free PMC Article
Gambarotta G, Boccaccio C, Giordano S, Andŏ M, Stella MC, Comoglio PM
Oncogene 1996 Nov 7;13(9):1911-7. PMID: 8934537
Jiralerspong S, Patel PI
Proc Soc Exp Biol Med 1996 Jun;212(2):116-27. doi: 10.3181/00379727-212-43998. PMID: 8650248

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