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Transition Mutation

MedGen UID:
108634
•Concept ID:
C0599156
•
Cell or Molecular Dysfunction
Synonyms: Mutation, Transition; Nucleotide Transition Abnormality; Transition

Definition

A relatively common point mutation in which a purine is exchanged for a nonidentical purine or a pyrimidine is exchanged for a nonidentical pyrimidine. Base mispairing and mutagenic chemicals including nitrous acid and 5-bromo-2-deoxyuridine can result in transitions. [from NCI]

Professional guidelines

PubMed

Evaluation of cytosine base editing and adenine base editing as a potential treatment for alpha-1 antitrypsin deficiency.
Packer MS, Chowdhary V, Lung G, Cheng LI, Aratyn-Schaus Y, Leboeuf D, Smith S, Shah A, Chen D, Zieger M, Cafferty BJ, Yan B, Ciaramella G, Gregoire FM, Mueller C
Mol Ther 2022 Apr 6;30(4):1396-1406. Epub 2022 Feb 2 doi: 10.1016/j.ymthe.2022.01.040. PMID: 35121111Free PMC Article
Cost effectiveness of in vitro fertilisation and preimplantation genetic testing to prevent transmission of BRCA1/2 mutations.
Lipton JH, Zargar M, Warner E, Greenblatt EE, Lee E, Chan KKW, Wong WWL
Hum Reprod 2020 Feb 29;35(2):434-445. doi: 10.1093/humrep/dez203. PMID: 32099994
Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome.
Sproule DM, Kaufmann P
Ann N Y Acad Sci 2008 Oct;1142:133-58. doi: 10.1196/annals.1444.011. PMID: 18990125

Recent clinical studies

Etiology

Investigation of Interferon Gamma Activity Using Bioinformatics Methods.
Hassan NE, Al-Janabi AA
Arch Razi Inst 2021 Nov;76(5):1245-1253. Epub 2021 Nov 30 doi: 10.22092/ari.2021.356106.1780. PMID: 35355749Free PMC Article
Clinical effect and antiviral mechanism of T-705 in treating severe fever with thrombocytopenia syndrome.
Li H, Jiang XM, Cui N, Yuan C, Zhang SF, Lu QB, Yang ZD, Xin QL, Song YB, Zhang XA, Liu HZ, Du J, Fan XJ, Yuan L, Yuan YM, Wang Z, Wang J, Zhang L, Zhang DN, Wang ZB, Dai K, Bai JY, Hao ZN, Fan H, Fang LQ, Xiao G, Yang Y, Peng K, Wang HQ, Li JX, Zhang LK, Liu W
Signal Transduct Target Ther 2021 Apr 16;6(1):145. doi: 10.1038/s41392-021-00541-3. PMID: 33859168Free PMC Article
An orally bioavailable broad-spectrum antiviral inhibits SARS-CoV-2 in human airway epithelial cell cultures and multiple coronaviruses in mice.
Sheahan TP, Sims AC, Zhou S, Graham RL, Pruijssers AJ, Agostini ML, Leist SR, Schäfer A, Dinnon KH 3rd, Stevens LJ, Chappell JD, Lu X, Hughes TM, George AS, Hill CS, Montgomery SA, Brown AJ, Bluemling GR, Natchus MG, Saindane M, Kolykhalov AA, Painter G, Harcourt J, Tamin A, Thornburg NJ, Swanstrom R, Denison MR, Baric RS
Sci Transl Med 2020 Apr 29;12(541) Epub 2020 Apr 6 doi: 10.1126/scitranslmed.abb5883. PMID: 32253226Free PMC Article
Association Between Fusobacterium nucleatum, Pathway Mutation, and Patient Prognosis in Colorectal Cancer.
Lee DW, Han SW, Kang JK, Bae JM, Kim HP, Won JK, Jeong SY, Park KJ, Kang GH, Kim TY
Ann Surg Oncol 2018 Oct;25(11):3389-3395. Epub 2018 Jul 30 doi: 10.1245/s10434-018-6681-5. PMID: 30062471
Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome.
Sproule DM, Kaufmann P
Ann N Y Acad Sci 2008 Oct;1142:133-58. doi: 10.1196/annals.1444.011. PMID: 18990125

Diagnosis

Investigation of Interferon Gamma Activity Using Bioinformatics Methods.
Hassan NE, Al-Janabi AA
Arch Razi Inst 2021 Nov;76(5):1245-1253. Epub 2021 Nov 30 doi: 10.22092/ari.2021.356106.1780. PMID: 35355749Free PMC Article
Antimicrobial resistance patterns and molecular resistance markers of Campylobacter jejuni isolates from human diarrheal cases.
Elhadidy M, Ali MM, El-Shibiny A, Miller WG, Elkhatib WF, Botteldoorn N, Dierick K
PLoS One 2020;15(1):e0227833. Epub 2020 Jan 17 doi: 10.1371/journal.pone.0227833. PMID: 31951631Free PMC Article
KRAS G12C mutation as a poor prognostic marker of pemetrexed treatment in non-small cell lung cancer.
Park S, Kim JY, Lee SH, Suh B, Keam B, Kim TM, Kim DW, Heo DS
Korean J Intern Med 2017 May;32(3):514-522. Epub 2017 Apr 14 doi: 10.3904/kjim.2015.299. PMID: 28407465Free PMC Article
Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome.
Sproule DM, Kaufmann P
Ann N Y Acad Sci 2008 Oct;1142:133-58. doi: 10.1196/annals.1444.011. PMID: 18990125
Clinical spectrum of the MELAS mutation in a large pedigree.
Damian MS, Seibel P, Reichmann H, Schachenmayr W, Laube H, Bachmann G, Wassill KH, Dorndorf W
Acta Neurol Scand 1995 Nov;92(5):409-15. doi: 10.1111/j.1600-0404.1995.tb00156.x. PMID: 8610496

Therapy

Favipiravir for Treatment of Outpatients With Asymptomatic or Uncomplicated Coronavirus Disease 2019: A Double-Blind, Randomized, Placebo-Controlled, Phase 2 Trial.
Holubar M, Subramanian A, Purington N, Hedlin H, Bunning B, Walter KS, Bonilla H, Boumis A, Chen M, Clinton K, Dewhurst L, Epstein C, Jagannathan P, Kaszynski RH, Panu L, Parsonnet J, Ponder EL, Quintero O, Sefton E, Singh U, Soberanis L, Truong H, Andrews JR, Desai M, Khosla C, Maldonado Y
Clin Infect Dis 2022 Nov 30;75(11):1883-1892. doi: 10.1093/cid/ciac312. PMID: 35446944Free PMC Article
Evaluation of cytosine base editing and adenine base editing as a potential treatment for alpha-1 antitrypsin deficiency.
Packer MS, Chowdhary V, Lung G, Cheng LI, Aratyn-Schaus Y, Leboeuf D, Smith S, Shah A, Chen D, Zieger M, Cafferty BJ, Yan B, Ciaramella G, Gregoire FM, Mueller C
Mol Ther 2022 Apr 6;30(4):1396-1406. Epub 2022 Feb 2 doi: 10.1016/j.ymthe.2022.01.040. PMID: 35121111Free PMC Article
Clinical effect and antiviral mechanism of T-705 in treating severe fever with thrombocytopenia syndrome.
Li H, Jiang XM, Cui N, Yuan C, Zhang SF, Lu QB, Yang ZD, Xin QL, Song YB, Zhang XA, Liu HZ, Du J, Fan XJ, Yuan L, Yuan YM, Wang Z, Wang J, Zhang L, Zhang DN, Wang ZB, Dai K, Bai JY, Hao ZN, Fan H, Fang LQ, Xiao G, Yang Y, Peng K, Wang HQ, Li JX, Zhang LK, Liu W
Signal Transduct Target Ther 2021 Apr 16;6(1):145. doi: 10.1038/s41392-021-00541-3. PMID: 33859168Free PMC Article
An orally bioavailable broad-spectrum antiviral inhibits SARS-CoV-2 in human airway epithelial cell cultures and multiple coronaviruses in mice.
Sheahan TP, Sims AC, Zhou S, Graham RL, Pruijssers AJ, Agostini ML, Leist SR, Schäfer A, Dinnon KH 3rd, Stevens LJ, Chappell JD, Lu X, Hughes TM, George AS, Hill CS, Montgomery SA, Brown AJ, Bluemling GR, Natchus MG, Saindane M, Kolykhalov AA, Painter G, Harcourt J, Tamin A, Thornburg NJ, Swanstrom R, Denison MR, Baric RS
Sci Transl Med 2020 Apr 29;12(541) Epub 2020 Apr 6 doi: 10.1126/scitranslmed.abb5883. PMID: 32253226Free PMC Article
KRAS G12C mutation as a poor prognostic marker of pemetrexed treatment in non-small cell lung cancer.
Park S, Kim JY, Lee SH, Suh B, Keam B, Kim TM, Kim DW, Heo DS
Korean J Intern Med 2017 May;32(3):514-522. Epub 2017 Apr 14 doi: 10.3904/kjim.2015.299. PMID: 28407465Free PMC Article

Prognosis

Association Between Fusobacterium nucleatum, Pathway Mutation, and Patient Prognosis in Colorectal Cancer.
Lee DW, Han SW, Kang JK, Bae JM, Kim HP, Won JK, Jeong SY, Park KJ, Kang GH, Kim TY
Ann Surg Oncol 2018 Oct;25(11):3389-3395. Epub 2018 Jul 30 doi: 10.1245/s10434-018-6681-5. PMID: 30062471
KRAS G12C mutation as a poor prognostic marker of pemetrexed treatment in non-small cell lung cancer.
Park S, Kim JY, Lee SH, Suh B, Keam B, Kim TM, Kim DW, Heo DS
Korean J Intern Med 2017 May;32(3):514-522. Epub 2017 Apr 14 doi: 10.3904/kjim.2015.299. PMID: 28407465Free PMC Article
Association of Matrilin-3 Gene Polymorphism with Temporomandibular Joint Internal Derangement.
Yilmaz AD, Yazicioğlu D, Tuzuner Oncul MA, Ereş G, Sayan NB
Genet Test Mol Biomarkers 2016 Oct;20(10):563-568. Epub 2016 Aug 17 doi: 10.1089/gtmb.2016.0037. PMID: 27533128
Choroideremia: new findings from ocular pathology and review of recent literature.
MacDonald IM, Russell L, Chan CC
Surv Ophthalmol 2009 May-Jun;54(3):401-7. doi: 10.1016/j.survophthal.2009.02.008. PMID: 19422966Free PMC Article
Epigenetic silencing of the MGMT gene in cancer.
Soejima H, Zhao W, Mukai T
Biochem Cell Biol 2005 Aug;83(4):429-37. doi: 10.1139/o05-140. PMID: 16094446

Clinical prediction guides

Clinical effect and antiviral mechanism of T-705 in treating severe fever with thrombocytopenia syndrome.
Li H, Jiang XM, Cui N, Yuan C, Zhang SF, Lu QB, Yang ZD, Xin QL, Song YB, Zhang XA, Liu HZ, Du J, Fan XJ, Yuan L, Yuan YM, Wang Z, Wang J, Zhang L, Zhang DN, Wang ZB, Dai K, Bai JY, Hao ZN, Fan H, Fang LQ, Xiao G, Yang Y, Peng K, Wang HQ, Li JX, Zhang LK, Liu W
Signal Transduct Target Ther 2021 Apr 16;6(1):145. doi: 10.1038/s41392-021-00541-3. PMID: 33859168Free PMC Article
KRAS G12C mutation as a poor prognostic marker of pemetrexed treatment in non-small cell lung cancer.
Park S, Kim JY, Lee SH, Suh B, Keam B, Kim TM, Kim DW, Heo DS
Korean J Intern Med 2017 May;32(3):514-522. Epub 2017 Apr 14 doi: 10.3904/kjim.2015.299. PMID: 28407465Free PMC Article
Association of Matrilin-3 Gene Polymorphism with Temporomandibular Joint Internal Derangement.
Yilmaz AD, Yazicioğlu D, Tuzuner Oncul MA, Ereş G, Sayan NB
Genet Test Mol Biomarkers 2016 Oct;20(10):563-568. Epub 2016 Aug 17 doi: 10.1089/gtmb.2016.0037. PMID: 27533128
HIV-1 and HIV-2 exhibit similar mutation frequencies and spectra in the absence of G-to-A hypermutation.
Rawson JM, Landman SR, Reilly CS, Mansky LM
Retrovirology 2015 Jul 10;12:60. doi: 10.1186/s12977-015-0180-6. PMID: 26160407Free PMC Article
Clinical and genetic investigation of a multi-generational Chinese family afflicted with Von Hippel-Lindau disease.
Zhang J, Ma J, Du X, Wu D, Ai H, Bai J, Dong S, Yang Q, Qu K, Lyu Y, Valenzuela RK, Liu C
Chin Med J (Engl) 2015 Jan 5;128(1):32-8. doi: 10.4103/0366-6999.147802. PMID: 25563310Free PMC Article

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