Details
| Originalsprache | Englisch |
|---|---|
| Aufsatznummer | e0312303 |
| Fachzeitschrift | PLOS ONE |
| Jahrgang | 19 |
| Ausgabenummer | 10 |
| Publikationsstatus | Veröffentlicht - 18 Okt. 2024 |
Abstract
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’UTR 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 in cellulo. 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.
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in: PLOS ONE, Jahrgang 19, Nr. 10, e0312303, 18.10.2024.
Publikation: Beitrag in Fachzeitschrift › Artikel › Forschung › Peer-Review
}
TY - JOUR
T1 - A transposable element prevents severe hemophilia B and provides insights into the evolution of new- and old world primates
AU - Kopp, Johannes
AU - Rovai, Alice
AU - Ott, Michael
AU - Wedemeyer, Heiner
AU - Tiede, Andreas
AU - Böhmer, Hans Jürgen
AU - Marques, Tomas
AU - Langemeier, Jörg
AU - Bohne, Jens
AU - Krooss, Simon Alexander
N1 - Publisher Copyright: © 2024 Kopp et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
PY - 2024/10/18
Y1 - 2024/10/18
N2 - 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’UTR 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 in cellulo. 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.
AB - 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’UTR 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 in cellulo. 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.
UR - http://www.scopus.com/inward/record.url?scp=85206824291&partnerID=8YFLogxK
U2 - 10.1371/journal.pone.0312303
DO - 10.1371/journal.pone.0312303
M3 - Article
C2 - 39423215
AN - SCOPUS:85206824291
VL - 19
JO - PLOS ONE
JF - PLOS ONE
SN - 1932-6203
IS - 10
M1 - e0312303
ER -