{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T04:23:25Z","timestamp":1747196605257,"version":"3.40.5"},"reference-count":41,"publisher":"Public Library of Science (PLoS)","issue":"10","license":[{"start":{"date-parts":[[2024,10,18]],"date-time":"2024-10-18T00:00:00Z","timestamp":1729209600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"abstract":"<jats:p>Alu-elements comprise a large part of the human genome and some insertions have been shown to cause diseases. Here, we illuminate the protective role of an Alu-element in the 3\u2019UTR of the human Factor 9 gene and its ability to ameliorate a poly(A) site mutation in a hemophilia B patient, preventing him from developing a severe disease. Using a minigene, we examined the disease-causing mutation and the modifying effect of the transposon <jats:italic>in cellulo<\/jats:italic>. Further, we simulated evolutionary scenarios regarding alternative polyadenylation before and after Alu insertion. A sequence analysis revealed that Old World monkeys displayed a highly conserved polyadenylation sites in this Alu-element, whereas New World monkeys lacked this motif, indicating a selective pressure. We conclude that this transposon has inserted shortly before the separation of Old and New World monkeys and thus also serves as a molecular landmark in primate evolution.<\/jats:p>","DOI":"10.1371\/journal.pone.0312303","type":"journal-article","created":{"date-parts":[[2024,10,18]],"date-time":"2024-10-18T17:23:46Z","timestamp":1729272226000},"page":"e0312303","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":0,"title":["A transposable element prevents severe hemophilia B and provides insights into the evolution of new- and old world primates"],"prefix":"10.1371","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0391-1497","authenticated-orcid":true,"given":"Johannes","family":"Kopp","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alice","family":"Rovai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Ott","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heiner","family":"Wedemeyer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Tiede","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9176-4836","authenticated-orcid":true,"given":"Hans J\u00fcrgen","family":"B\u00f6hmer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomas","family":"Marques","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00f6rg","family":"Langemeier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jens","family":"Bohne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6372-395X","authenticated-orcid":true,"given":"Simon Alexander","family":"Krooss","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2024,10,18]]},"reference":[{"issue":"3","key":"pone.0312303.ref001","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1093\/nar\/gkm1120","article-title":"Role of poly (A) tail as an identity element for mRNA nuclear export.","volume":"36","author":"H Fuke","year":"2008","journal-title":"Nucleic Acids Res"},{"key":"pone.0312303.ref002","first-page":"611","article-title":"The Poly (A) Tail of mRNAs: Bodyguard in Eukaryotes","volume":"111","author":"M Dreyfus","year":"2002","journal-title":"Scavenger in Bacteria Minireview"},{"issue":"12","key":"pone.0312303.ref003","doi-asserted-by":"crossref","first-page":"a000752","DOI":"10.1101\/cshperspect.a000752","article-title":"RNA processing and export","volume":"2","author":"S Hocine","year":"2010","journal-title":"Cold Spring Harb Perspect Biol"},{"issue":"2","key":"pone.0312303.ref004","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1002\/j.1460-2075.1993.tb05690.x","article-title":"Assembly of a processive messenger RNA polyadenylation complex","volume":"12","author":"S Bienroth","year":"1993","journal-title":"EMBO J"},{"issue":"7","key":"pone.0312303.ref005","doi-asserted-by":"crossref","first-page":"1001","DOI":"10.1101\/gr.10.7.1001","article-title":"Patterns of variant polyadenylation signal usage in human genes","volume":"10","author":"E Beaudoing","year":"2000","journal-title":"Genome Res"},{"issue":"11","key":"pone.0312303.ref006","doi-asserted-by":"crossref","first-page":"79511","DOI":"10.1371\/journal.pone.0079511","article-title":"RNA polyadenylation sites on the genomes of microorganisms, animals, and plants","volume":"8","author":"XQ Li","year":"2013","journal-title":"PLoS One"},{"issue":"3","key":"pone.0312303.ref007","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1038\/sj.emboj.7601932","article-title":"3\u2019 end mRNA processing: molecular mechanisms and implications for health and disease","volume":"27","author":"S Danckwardt","year":"2008","journal-title":"EMBO J"},{"key":"pone.0312303.ref008","doi-asserted-by":"crossref","first-page":"3613","DOI":"10.1007\/s00018-012-0990-9","article-title":"Regulation of eukaryotic gene expression by the untranslated gene regions and other non-coding elements","volume":"69","author":"LW Barrett","year":"2012","journal-title":"Cellular and Molecular Life Sciences. 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