{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"institution":[{"name":"Research Square"}],"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T06:25:47Z","timestamp":1747203947808,"version":"3.40.5"},"posted":{"date-parts":[[2022,1,12]]},"group-title":"In Review","reference-count":0,"publisher":"Springer Science and Business Media LLC","license":[{"start":{"date-parts":[[2022,1,12]],"date-time":"2022-01-12T00:00:00Z","timestamp":1641945600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"accepted":{"date-parts":[[2022,1,7]]},"abstract":"<title>Abstract<\/title>\n        <p>Transposable elements (TEs) are interspersed repetitive DNA sequences with the ability to mobilize in the genome. The recent development of improved tools for evaluating TE-derived sequences in genomic studies has enabled an increasing attention to the contribution of TEs to human development and disease. Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease that is caused by deletions or mutations in the <italic>Survival Motor Neuron 1<\/italic> (<italic>SMN1<\/italic>) gene. <italic>SMN2<\/italic> gene is a nearly perfect duplication of <italic>SMN1<\/italic>. Both genes (collectively known as <italic>SMN1<\/italic>\/<italic>SMN2<\/italic>) are highly enriched in TEs. A comprehensive analysis of TEs insertions in the <italic>SMN1\/2<\/italic> <italic>loci<\/italic> of SMA carriers, patients and healthy\/control individuals was completed to perceive TE dynamics in <italic>SMN1\/2<\/italic> and try to establish a link between these elements and SMA.We found an Alu insertion in the promoter region and one L1 element in the 3\u2019UTR that likely play an important role as an alternative promoter and as an alternative terminator to the gene, respectively. Additionally, the several Alu repeats inserted in the genes\u2019 introns influence splicing, giving rise to alternative splicing events that cause RNA circularization and the birth of new alternative exons. These Alu repeats present throughout the genes are also prone to recombination events that can lead to <italic>SMN1<\/italic> exons deletions, that ultimately lead to SMA. The many good and bad implications associated with the presence of TEs inside <italic>SMN1\/2<\/italic> make this genomic region ideal for understanding the implications of TEs on genomic evolution as well as on human genomic disease.<\/p>","DOI":"10.21203\/rs.3.rs-1239736\/v1","type":"posted-content","created":{"date-parts":[[2022,1,12]],"date-time":"2022-01-12T15:52:31Z","timestamp":1642002751000},"source":"Crossref","is-referenced-by-count":2,"title":["Comprehensive Analysis of Retrotransposon Insertions within the Survival Motor Neuron Genes Involved in Spinal Muscular Atrophy"],"prefix":"10.21203","author":[{"given":"Albano","family":"Pinto","sequence":"first","affiliation":[{"name":"University of Tras-os-Montes and Alto Douro: Universidade de Tras-os-Montes e Alto Douro"}]},{"given":"Catarina","family":"Cunha","sequence":"additional","affiliation":[{"name":"University of Tras-os-Montes and Alto Douro: Universidade de Tras-os-Montes e Alto Douro"}]},{"given":"Raquel","family":"Chaves","sequence":"additional","affiliation":[{"name":"University of Tras-os-Montes and Alto Douro: Universidade de Tras-os-Montes e Alto Douro"}]},{"given":"Matthew ER","family":"Butchbach","sequence":"additional","affiliation":[{"name":"Nemours Biomedical Research"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5646-5534","authenticated-orcid":false,"given":"Filomena","family":"Adega","sequence":"additional","affiliation":[{"name":"Universidade de Tr\u00e1s-os-Montes e Alto Douro"}]}],"member":"297","container-title":[],"original-title":[],"link":[{"URL":"https:\/\/www.researchsquare.com\/article\/rs-1239736\/v1","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.researchsquare.com\/article\/rs-1239736\/v1.html","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,2,24]],"date-time":"2022-02-24T14:02:02Z","timestamp":1645711322000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.researchsquare.com\/article\/rs-1239736\/v1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,12]]},"references-count":0,"URL":"https:\/\/doi.org\/10.21203\/rs.3.rs-1239736\/v1","relation":{},"subject":[],"published":{"date-parts":[[2022,1,12]]},"subtype":"preprint"}}