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Chromosomal Insertion

MedGen UID:
275731
•Concept ID:
C1516518
•
Cell or Molecular Dysfunction

Definition

A chromosomal rearrangement in which a segment a segment of DNA is added internally to a chromosome. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChromosomal Insertion

Professional guidelines

PubMed

Differential induction of Shiga toxin in environmental Escherichia coli O145:H28 strains carrying the same genotype as the outbreak strains.
Carter MQ, Pham A, Du WX, He X
Int J Food Microbiol 2021 Feb 2;339:109029. Epub 2020 Dec 23 doi: 10.1016/j.ijfoodmicro.2020.109029. PMID: 33360585

Recent clinical studies

Etiology

Rare 15q21.1q22.31 Duplication Due to a Familial Chromosomal Insertion and Diagnostic Investigation in a Carrier of Balanced Chromosomal Rearrangement and Intellectual Disability.
Nascimento CG, Prota JRM, Sgardioli IC, Spineli-Silva S, Campos NLV, Gil-da-Silva-Lopes VL, Vieira TP
Genes (Basel) 2023 Apr 9;14(4) doi: 10.3390/genes14040885. PMID: 37107643Free PMC Article
Chronic myeloid leukemia with insertion-derived BCR-ABL1 fusion: redefining complex chromosomal abnormalities by correlation of FISH and karyotype predicts prognosis.
Tang Z, Toruner GA, Tang G, Cameron Yin C, Wang W, Hu S, Thakral B, Wang SA, Miranda RN, Khoury JD, Medeiros LJ
Mod Pathol 2020 Oct;33(10):2035-2045. Epub 2020 May 13 doi: 10.1038/s41379-020-0564-6. PMID: 32404952
Genome plasticity favours double chromosomal Tn4401b-bla(KPC-2) transposon insertion in the Pseudomonas aeruginosa ST235 clone.
Abril D, Marquez-Ortiz RA, Castro-Cardozo B, Moncayo-Ortiz JI, Olarte Escobar NM, Corredor Rozo ZL, Reyes N, Tovar C, Sánchez HF, Castellanos J, Guaca-González YM, Llanos-Uribe CE, Vanegas Gómez N, Escobar-Pérez J
BMC Microbiol 2019 Feb 20;19(1):45. doi: 10.1186/s12866-019-1418-6. PMID: 30786858Free PMC Article
Platelet-derived growth factor receptors (PDGFRs) fusion genes involvement in hematological malignancies.
Appiah-Kubi K, Lan T, Wang Y, Qian H, Wu M, Yao X, Wu Y, Chen Y
Crit Rev Oncol Hematol 2017 Jan;109:20-34. Epub 2016 Nov 21 doi: 10.1016/j.critrevonc.2016.11.008. PMID: 28010895
Risk potential of the chromosomal insertion of foreign DNA.
Kurth R
Ann N Y Acad Sci 1995 Nov 27;772:140-51. doi: 10.1111/j.1749-6632.1995.tb44739.x. PMID: 8546386

Diagnosis

Rare 15q21.1q22.31 Duplication Due to a Familial Chromosomal Insertion and Diagnostic Investigation in a Carrier of Balanced Chromosomal Rearrangement and Intellectual Disability.
Nascimento CG, Prota JRM, Sgardioli IC, Spineli-Silva S, Campos NLV, Gil-da-Silva-Lopes VL, Vieira TP
Genes (Basel) 2023 Apr 9;14(4) doi: 10.3390/genes14040885. PMID: 37107643Free PMC Article
Optimization of diagnostic strategy for non-invasive cell-free foetal RHD determination from maternal plasma.
Pazourkova E, Zednikova I, Korabecna M, Kralova J, Pisacka M, Novotna M, Calda P, Horinek A
Vox Sang 2021 Oct;116(9):1012-1019. Epub 2021 Mar 24 doi: 10.1111/vox.13099. PMID: 33761162
Chronic myeloid leukemia with insertion-derived BCR-ABL1 fusion: redefining complex chromosomal abnormalities by correlation of FISH and karyotype predicts prognosis.
Tang Z, Toruner GA, Tang G, Cameron Yin C, Wang W, Hu S, Thakral B, Wang SA, Miranda RN, Khoury JD, Medeiros LJ
Mod Pathol 2020 Oct;33(10):2035-2045. Epub 2020 May 13 doi: 10.1038/s41379-020-0564-6. PMID: 32404952
Platelet-derived growth factor receptors (PDGFRs) fusion genes involvement in hematological malignancies.
Appiah-Kubi K, Lan T, Wang Y, Qian H, Wu M, Yao X, Wu Y, Chen Y
Crit Rev Oncol Hematol 2017 Jan;109:20-34. Epub 2016 Nov 21 doi: 10.1016/j.critrevonc.2016.11.008. PMID: 28010895
Insertion sequence IS200 can differentiate drug-resistant and drug-sensitive Salmonella typhi of Vi-phage types E1 and M1.
Threlfall EJ, Torre E, Ward LR, Rowe B, Gibert I
J Med Microbiol 1993 Dec;39(6):454-8. doi: 10.1099/00222615-39-6-454. PMID: 8246265

Therapy

Transcriptional activities of the Sleeping Beauty transposon and shielding its genetic cargo with insulators.
Walisko O, Schorn A, Rolfs F, Devaraj A, Miskey C, Izsvák Z, Ivics Z
Mol Ther 2008 Feb;16(2):359-69. Epub 2007 Dec 11 doi: 10.1038/sj.mt.6300366. PMID: 18071335
Mutagenesis and oncogenesis by chromosomal insertion of gene transfer vectors.
Baum C, Kustikova O, Modlich U, Li Z, Fehse B
Hum Gene Ther 2006 Mar;17(3):253-63. doi: 10.1089/hum.2006.17.253. PMID: 16544975
Risk potential of the chromosomal insertion of foreign DNA.
Kurth R
Dev Biol Stand 1998;93:45-56. PMID: 9737376
Chromosomal insertion of foreign DNA.
Bishop JO
Reprod Nutr Dev 1996;36(6):607-18. PMID: 9021872
Risk potential of the chromosomal insertion of foreign DNA.
Kurth R
Ann N Y Acad Sci 1995 Nov 27;772:140-51. doi: 10.1111/j.1749-6632.1995.tb44739.x. PMID: 8546386

Prognosis

Detection of cell-free foetal DNA fraction in female-foetus bearing pregnancies using X-chromosomal insertion/deletion polymorphisms examined by digital droplet PCR.
Zednikova I, Pazourkova E, Lassakova S, Vesela B, Korabecna M
Sci Rep 2020 Nov 18;10(1):20036. doi: 10.1038/s41598-020-77084-0. PMID: 33208834Free PMC Article
Chronic myeloid leukemia with insertion-derived BCR-ABL1 fusion: redefining complex chromosomal abnormalities by correlation of FISH and karyotype predicts prognosis.
Tang Z, Toruner GA, Tang G, Cameron Yin C, Wang W, Hu S, Thakral B, Wang SA, Miranda RN, Khoury JD, Medeiros LJ
Mod Pathol 2020 Oct;33(10):2035-2045. Epub 2020 May 13 doi: 10.1038/s41379-020-0564-6. PMID: 32404952
IS-seq: a novel high throughput survey of in vivo IS6110 transposition in multiple Mycobacterium tuberculosis genomes.
Reyes A, Sandoval A, Cubillos-Ruiz A, Varley KE, Hernández-Neuta I, Samper S, Martín C, García MJ, Ritacco V, López L, Robledo J, Zambrano MM, Mitra RD, Del Portillo P
BMC Genomics 2012 Jun 15;13:249. doi: 10.1186/1471-2164-13-249. PMID: 22703188Free PMC Article
Distinct bacteriophages encoding Panton-Valentine leukocidin (PVL) among international methicillin-resistant Staphylococcus aureus clones harboring PVL.
Boakes E, Kearns AM, Ganner M, Perry C, Hill RL, Ellington MJ
J Clin Microbiol 2011 Feb;49(2):684-92. Epub 2010 Nov 24 doi: 10.1128/JCM.01917-10. PMID: 21106787Free PMC Article
Use of transposon-transposase complexes to create stable insertion mutant strains of Francisella tularensis LVS.
Kawula TH, Hall JD, Fuller JR, Craven RR
Appl Environ Microbiol 2004 Nov;70(11):6901-4. doi: 10.1128/AEM.70.11.6901-6904.2004. PMID: 15528561Free PMC Article

Clinical prediction guides

A study of innate immune kinetics reveals a role for a chloride transporter in a virulent Francisella tularensis type B strain.
Matz LM, Petrosino JF
Microbiologyopen 2021 Feb;10(2):e1170. doi: 10.1002/mbo3.1170. PMID: 33970545Free PMC Article
Chronic myeloid leukemia with insertion-derived BCR-ABL1 fusion: redefining complex chromosomal abnormalities by correlation of FISH and karyotype predicts prognosis.
Tang Z, Toruner GA, Tang G, Cameron Yin C, Wang W, Hu S, Thakral B, Wang SA, Miranda RN, Khoury JD, Medeiros LJ
Mod Pathol 2020 Oct;33(10):2035-2045. Epub 2020 May 13 doi: 10.1038/s41379-020-0564-6. PMID: 32404952
The changing epidemiology of VanB Enterococcus faecium in Poland.
Sadowy E, Gawryszewska I, Kuch A, Żabicka D, Hryniewicz W
Eur J Clin Microbiol Infect Dis 2018 May;37(5):927-936. Epub 2018 Feb 13 doi: 10.1007/s10096-018-3209-7. PMID: 29442195Free PMC Article
Diversity of Shiga Toxin-Producing Escherichia coli (STEC) O26:H11 Strains Examined via stx Subtypes and Insertion Sites of Stx and EspK Bacteriophages.
Bonanno L, Loukiadis E, Mariani-Kurkdjian P, Oswald E, Garnier L, Michel V, Auvray F
Appl Environ Microbiol 2015 Jun;81(11):3712-21. Epub 2015 Mar 27 doi: 10.1128/AEM.00077-15. PMID: 25819955Free PMC Article
Chromosomal-array analysis reveals partial 11q duplication and partial 12p deletion in a mildly affected case.
Tuğ E, Yirmibeş Karaoğuz M, Kayhan G, Ergün MA, Perçin FE
Am J Med Genet A 2014 Jul;164A(7):1770-6. Epub 2014 Mar 26 doi: 10.1002/ajmg.a.36495. PMID: 24677787

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