Gene fusions derived by transcriptional readthrough are driven by segmental duplication in human
McCartney, Ann M. (Dublin City University. Bioinformatics and Molecular Evolution Group)
Hyland, Edel M. (Queens University Belfast. Institute for Global Food Security)
Cormican, Paul (Animal and Grassland Research and Innovation Centre (Irlanda))
Moran, Raymond J. (Dublin City University. Bioinformatics and Molecular Evolution Group)
Webb, Andrew E. (Dublin City University. Bioinformatics and Molecular Evolution Group)
Lee, Kate D. (Massey University (New Zealand))
Hernandez Rodriguez, Jessica (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona))
Prado-Martinez, Javier (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona))
Creevey, Christopher J. (Aberystwyth University. Institute of Biological, Environmental and Rural Sciences)
Aspden, Julie L. (University of Leeds. School of Molecular and Cellular Biology)
McInerney, James O. (University of Nottingham. School of Life Sciences)
Marquès i Bonet, Tomàs 1975- (Institut Català de Paleontologia Miquel Crusafont)
O'Connell, Mary J. (University of Nottingham. School of Life Sciences)

Date:	2019
Abstract:	Gene 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.
Grants:	Agencia Estatal de Investigación BFU2017-86471-P Agència de Gestió d'Ajuts Universitaris i de Recerca 2017/SGR-880
Note:	Altres ajuts: CERCA Programme/Generalitat de Catalunya
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	Sequence similarity networks ; Novel genes ; Segmental duplication ; Mechanisms of protein-coding evolution ; Great Ape Comparative genomics ; Transcriptional readthrough
Published in:	Genome biology and evolution, Vol. 11, Issue 9 (September 2019) , p. 2678-2690, ISSN 1759-6653

DOI: 10.1093/gbe/evz163
PMID: 31400206

13 p, 561.5 KB

The record appears in these collections:
Research literature > UAB research groups literature > Research Centres and Groups (research output) > Experimental sciences > Institut Català de Paleontologia Miquel Crusafont (ICP)
Articles > Research articles
Articles > Published articles