We found that 471 of these mutations were large intragenic rearrangements.
Jonas Juan-Mateu, Lidia Gonzalez-Quereda, Maria Jose Rodriguez, Manel Baena, EdgardVerdura, Andres Nascimento, Carlos Ortez, Montserrat Baiget, Pia Gallano 2015, 'DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-PhenotypeCorrelations', PLOS ONE10.1371/journal.pone.0135189. Retrieved from PLOS CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)
Many microorganisms exhibit high levels of intragenic recombination following horizontal gene transfer events.
John E Wertz, Karen F McGregor, Debra E Bessen 2007, 'Detecting key structural features within highly recombined genes.', PLoS Computational Biologyhttp://europepmc.org/articles/PMC1782043?pdf=render. Retrieved from PLOS CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)
However, next-generation sequencing was less useful for small, intragenic deletions and duplications.
Lopez Jimenez Nelson, Flannick Jason, Yahyavi Mani, Li Jiang, Bardakjian Tanya, TonkinLeath, Schneider Adele, Sherr Elliott H, Slavotinek Anne M 2011, 'Targeted 'Next-Generation' sequencing in anophthalmia and microphthalmia patientsconfirms SOX2, OTX2 and FOXE3 mutations', BMC Medical Geneticshttp://www.biomedcentral.com/1471-2350/12/172. Retrieved from DOAJ CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)
L1s are widely distributed both inside and outside of genes, intragenic and intergenic, respectively.
Chatchawit Aporntewan, Chureerat Phokaew, Jittima Piriyapongsa, Chumpol Ngamphiw,Chupong Ittiwut, Sissades Tongsima, Apiwat Mutirangura 2011, 'Hypomethylation of intragenic LINE-1 represses transcription in cancer cells throughAGO2.', PLoS ONEhttp://europepmc.org/articles/PMC3057998?pdf=render. Retrieved from PLOS CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)
The intragenic mutations prevented transcription of all three genes.
Chuanmin Cheng, Arathy D S Nair, Vijaya V Indukuri, Shanzhong Gong, Roderick F Felsheim,Deborah Jaworski, Ulrike G Munderloh, Roman R Ganta 2013, 'Targeted and random mutagenesis of Ehrlichia chaffeensis for the identification ofgenes required for in vivo infection.', PLoS Pathogenshttp://europepmc.org/articles/PMC3573109?pdf=render. Retrieved from PLOS CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)
Another large target gene subset including candidate tumour suppressors was disrupted by intragenic insertions.
Camille A Huser, Kathryn L Gilroy, Jeroen de Ridder, Anna Kilbey, Gillian Borland,Nancy Mackay, Alma Jenkins, Margaret Bell, Pawel Herzyk, Louise van der Weyden, DavidJ Adams, Alistair G Rust, Ewan Cameron, James C Neil 2014, 'Insertional mutagenesis and deep profiling reveals gene hierarchies and a Myc/p53-dependentbottleneck in lymphomagenesis.', PLoS Geneticshttp://europepmc.org/articles/PMC3937229?pdf=render. Retrieved from PLOS CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)
One cisgenic line and the intragenic line performed as well as the resistant control.
Frans A. Krens, Jan G. Schaart, Aranka M. van der Burgh, Iris E.M. Tinnenbroek-Capel,Remmelt eGroenwold, Linda P. Kodde, Giovanni A.L. Broggini, Cesare eGessler, HenkJ. Schouten 2015, 'Cisgenic apple trees; development, characterization and performance', Frontiers in Plant Sciencehttp://journal.frontiersin.org/Journal/10.3389/fpls.2015.00286/full. Retrieved from DOAJ CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)
Unexpectedly, many suppressors were intragenic missense mutants, and some restore sporulation to near-wild-type levels.
Baundauna Bose, Sydney E. Reed, Marina Besprozvannaya, Briana M. Burton 2016, 'Missense Mutations Allow a Sequence-Blind Mutant of SpoIIIE to Successfully TranslocateChromosomes during Sporulation', PLOS ONE10.1371/journal.pone.0148365. Retrieved from PLOS CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)
There was no evidence of intragenic epistasis.
Case Karen L, Hahn Harvey S, Grabowski Gregory A, Aronow Bruce J, Keddache Mehdi A,Kelly Reagan J, Kardia Sharon LR, Wagoner Lynne E, Dorn Gerald W, Liggett StephenB 2008, 'Multiple interactions between the alpha2C- and beta1-adrenergicreceptors influence heart failure survival', BMC Medical Geneticshttp://www.biomedcentral.com/1471-2350/9/93. Retrieved from DOAJ CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)