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dc.contributor.authorMcCartney, Ann M
dc.contributor.authorHyland, Edel M
dc.contributor.authorCormican, Paul
dc.contributor.authorMoran, Raymond J
dc.contributor.authorWebb, Andrew E
dc.contributor.authorLee, Kate D
dc.contributor.authorHernandez-Rodriguez, Jessica
dc.contributor.authorPrado-Martinez, Javier
dc.contributor.authorCreevey, Christopher J
dc.contributor.authorAspden, Julie L
dc.contributor.authorMcInerney, James O
dc.contributor.authorMarques-Bonet, Tomas
dc.contributor.authorO'Connell, Mary J
dc.date.accessioned2020-06-16T11:17:29Z
dc.date.available2020-06-16T11:17:29Z
dc.date.issued2019-08-10
dc.identifier.citationAnn M McCartney, Edel M Hyland, Paul Cormican, Raymond J Moran, Andrew E Webb, Kate D Lee, Jessica Hernandez-Rodriguez, Javier Prado-Martinez, Christopher J Creevey, Julie L Aspden, James O McInerney, Tomas Marques-Bonet, Mary J O’Connell, Gene Fusions Derived by Transcriptional Readthrough are Driven by Segmental Duplication in Human, Genome Biology and Evolution, Vol. 11(9), 2678–2690, doi: https://doi.org/10.1093/gbe/evz163en_US
dc.identifier.issn1759-6653
dc.identifier.urihttp://hdl.handle.net/11019/1976
dc.descriptionpeer-revieweden_US
dc.description.abstractGene fusion occurs when two or more individual genes with independent open reading frames becoming juxtaposed under the same open reading frame creating a new fused gene. A small number of gene fusions described in detail have been associated with novel functions, for example, the hominid-specific PIPSL gene, TNFSF12, and the TWE-PRIL gene family. We use Sequence Similarity Networks and species level comparisons of great ape genomes to identify 45 new genes that have emerged by transcriptional readthrough, that is, transcription-derived gene fusion. For 35 of these putative gene fusions, we have been able to assess available RNAseq data to determine whether there are reads that map to each breakpoint. A total of 29 of the putative gene fusions had annotated transcripts (9/29 of which are human-specific). We carried out RT-qPCR in a range of human tissues (placenta, lung, liver, brain, and testes) and found that 23 of the putative gene fusion events were expressed in at least one tissue. Examining the available ribosome foot-printing data, we find evidence for translation of three of the fused genes in human. Finally, we find enrichment for transcription-derived gene fusions in regions of known segmental duplication in human. Together, our results implicate chromosomal structural variation brought about by segmental duplication with the emergence of novel transcripts and translated protein products.en_US
dc.language.isoenen_US
dc.publisherOxford Academicen_US
dc.relation.ispartofseriesGenome Biology and Evolution;Vol. 11 (9)
dc.rightsAttribution-NonCommercial-ShareAlike 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-sa/3.0/us/*
dc.subjectGreat Ape Comparative genomicsen_US
dc.subjectmechanisms of protein-coding evolutionen_US
dc.subjectnovel genesen_US
dc.subjectsegmental duplicationen_US
dc.subjectsequence similarity networksen_US
dc.subjecttranscriptional readthroughen_US
dc.titleGene Fusions Derived by Transcriptional Readthrough are Driven by Segmental Duplication in Human.en_US
dc.typeArticleen_US
dc.identifier.doihttps://doi.org/10.1093/gbe/evz163
dc.contributor.sponsorIrish Research Councilen_US
dc.contributor.sponsorPierse Trust funden_US
dc.contributor.sponsorOrla Benson scholarshipen_US
dc.contributor.sponsorUniversity of Leedsen_US
dc.contributor.sponsorMinistry of Economy and Competitivenessen_US
dc.contributor.sponsorGrantNumberRS/2012/466en_US
dc.contributor.sponsorGrantNumberGOIPG/2014/306en_US
dc.contributor.sponsorGrantNumberBFU2017-86471-Pen_US
refterms.dateFOA2020-06-16T11:17:29Z
dc.source.journaltitleGenome biology and evolution


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