PortalPublikationenTranscriptional Alterations in X-Linked Dystonia-Parkinsonis...

Transcriptional Alterations in X-Linked Dystonia-Parkinsonism Caused by the SVA Retrotransposon

Standard

Transcriptional Alterations in X-Linked Dystonia-Parkinsonism Caused by the SVA Retrotransposon. / Pozojevic, Jelena; Algodon, Shela Marie; Cruz, Joseph Neos; Trinh, Joanne; Brüggemann, Norbert; Laß, Joshua; Grütz, Karen; Schaake, Susen; Tse, Ronnie; Yumiceba, Veronica; Kruse, Nathalie; Schulz, Kristin; Sreenivasan, Varun K A; Rosales, Raymond L; Jamora, Roland Dominic G; Diesta, Cid Czarina E; Matschke, Jakob; Glatzel, Markus; Seibler, Philip; Händler, Kristian; Rakovic, Aleksandar; Kirchner, Henriette; Spielmann, Malte; Kaiser, Frank J; Klein, Christine; Westenberger, Ana.

in: INT J MOL SCI, Jahrgang 23, Nr. 4, 2231, 17.02.2022.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Pozojevic, J, Algodon, SM, Cruz, JN, Trinh, J, Brüggemann, N, Laß, J, Grütz, K, Schaake, S, Tse, R, Yumiceba, V, Kruse, N, Schulz, K, Sreenivasan, VKA, Rosales, RL, Jamora, RDG, Diesta, CCE, Matschke, J, Glatzel, M, Seibler, P, Händler, K, Rakovic, A, Kirchner, H, Spielmann, M, Kaiser, FJ, Klein, C & Westenberger, A 2022, 'Transcriptional Alterations in X-Linked Dystonia-Parkinsonism Caused by the SVA Retrotransposon', INT J MOL SCI, Jg. 23, Nr. 4, 2231. https://doi.org/10.3390/ijms23042231

APA

Pozojevic, J., Algodon, S. M., Cruz, J. N., Trinh, J., Brüggemann, N., Laß, J., Grütz, K., Schaake, S., Tse, R., Yumiceba, V., Kruse, N., Schulz, K., Sreenivasan, V. K. A., Rosales, R. L., Jamora, R. D. G., Diesta, C. C. E., Matschke, J., Glatzel, M., Seibler, P., ... Westenberger, A. (2022). Transcriptional Alterations in X-Linked Dystonia-Parkinsonism Caused by the SVA Retrotransposon. INT J MOL SCI, 23(4), [2231]. https://doi.org/10.3390/ijms23042231

Vancouver

Pozojevic J, Algodon SM, Cruz JN, Trinh J, Brüggemann N, Laß J et al. Transcriptional Alterations in X-Linked Dystonia-Parkinsonism Caused by the SVA Retrotransposon. INT J MOL SCI. 2022 Feb 17;23(4). 2231. https://doi.org/10.3390/ijms23042231

Bibtex

@article{584b0300ab00467880a2493632133ae0,
title = "Transcriptional Alterations in X-Linked Dystonia-Parkinsonism Caused by the SVA Retrotransposon",
abstract = "X-linked dystonia-parkinsonism (XDP) is a severe neurodegenerative disorder that manifests as adult-onset dystonia combined with parkinsonism. A SINE-VNTR-Alu (SVA) retrotransposon inserted in an intron of the TAF1 gene reduces its expression and alters splicing in XDP patient-derived cells. As a consequence, increased levels of the TAF1 intron retention transcript TAF1-32i can be found in XDP cells as compared to healthy controls. Here, we investigate the sequence of the deep intronic region included in this transcript and show that it is also present in cells from healthy individuals, albeit in lower amounts than in XDP cells, and that it undergoes degradation by nonsense-mediated mRNA decay. Furthermore, we investigate epigenetic marks (e.g., DNA methylation and histone modifications) present in this intronic region and the spanning sequence. Finally, we show that the SVA evinces regulatory potential, as demonstrated by its ability to repress the TAF1 promoter in vitro. Our results enable a better understanding of the disease mechanisms underlying XDP and transcriptional alterations caused by SVA retrotransposons.",
author = "Jelena Pozojevic and Algodon, {Shela Marie} and Cruz, {Joseph Neos} and Joanne Trinh and Norbert Br{\"u}ggemann and Joshua La{\ss} and Karen Gr{\"u}tz and Susen Schaake and Ronnie Tse and Veronica Yumiceba and Nathalie Kruse and Kristin Schulz and Sreenivasan, {Varun K A} and Rosales, {Raymond L} and Jamora, {Roland Dominic G} and Diesta, {Cid Czarina E} and Jakob Matschke and Markus Glatzel and Philip Seibler and Kristian H{\"a}ndler and Aleksandar Rakovic and Henriette Kirchner and Malte Spielmann and Kaiser, {Frank J} and Christine Klein and Ana Westenberger",
year = "2022",
month = feb,
day = "17",
doi = "10.3390/ijms23042231",
language = "English",
volume = "23",
journal = "INT J MOL SCI",
issn = "1661-6596",
publisher = "Multidisciplinary Digital Publishing Institute (MDPI)",
number = "4",

}

RIS

TY - JOUR

T1 - Transcriptional Alterations in X-Linked Dystonia-Parkinsonism Caused by the SVA Retrotransposon

AU - Pozojevic, Jelena

AU - Algodon, Shela Marie

AU - Cruz, Joseph Neos

AU - Trinh, Joanne

AU - Brüggemann, Norbert

AU - Laß, Joshua

AU - Grütz, Karen

AU - Schaake, Susen

AU - Tse, Ronnie

AU - Yumiceba, Veronica

AU - Kruse, Nathalie

AU - Schulz, Kristin

AU - Sreenivasan, Varun K A

AU - Rosales, Raymond L

AU - Jamora, Roland Dominic G

AU - Diesta, Cid Czarina E

AU - Matschke, Jakob

AU - Glatzel, Markus

AU - Seibler, Philip

AU - Händler, Kristian

AU - Rakovic, Aleksandar

AU - Kirchner, Henriette

AU - Spielmann, Malte

AU - Kaiser, Frank J

AU - Klein, Christine

AU - Westenberger, Ana

PY - 2022/2/17

Y1 - 2022/2/17

N2 - X-linked dystonia-parkinsonism (XDP) is a severe neurodegenerative disorder that manifests as adult-onset dystonia combined with parkinsonism. A SINE-VNTR-Alu (SVA) retrotransposon inserted in an intron of the TAF1 gene reduces its expression and alters splicing in XDP patient-derived cells. As a consequence, increased levels of the TAF1 intron retention transcript TAF1-32i can be found in XDP cells as compared to healthy controls. Here, we investigate the sequence of the deep intronic region included in this transcript and show that it is also present in cells from healthy individuals, albeit in lower amounts than in XDP cells, and that it undergoes degradation by nonsense-mediated mRNA decay. Furthermore, we investigate epigenetic marks (e.g., DNA methylation and histone modifications) present in this intronic region and the spanning sequence. Finally, we show that the SVA evinces regulatory potential, as demonstrated by its ability to repress the TAF1 promoter in vitro. Our results enable a better understanding of the disease mechanisms underlying XDP and transcriptional alterations caused by SVA retrotransposons.

AB - X-linked dystonia-parkinsonism (XDP) is a severe neurodegenerative disorder that manifests as adult-onset dystonia combined with parkinsonism. A SINE-VNTR-Alu (SVA) retrotransposon inserted in an intron of the TAF1 gene reduces its expression and alters splicing in XDP patient-derived cells. As a consequence, increased levels of the TAF1 intron retention transcript TAF1-32i can be found in XDP cells as compared to healthy controls. Here, we investigate the sequence of the deep intronic region included in this transcript and show that it is also present in cells from healthy individuals, albeit in lower amounts than in XDP cells, and that it undergoes degradation by nonsense-mediated mRNA decay. Furthermore, we investigate epigenetic marks (e.g., DNA methylation and histone modifications) present in this intronic region and the spanning sequence. Finally, we show that the SVA evinces regulatory potential, as demonstrated by its ability to repress the TAF1 promoter in vitro. Our results enable a better understanding of the disease mechanisms underlying XDP and transcriptional alterations caused by SVA retrotransposons.

U2 - 10.3390/ijms23042231

DO - 10.3390/ijms23042231

M3 - SCORING: Journal article

C2 - 35216353

VL - 23

JO - INT J MOL SCI

JF - INT J MOL SCI

SN - 1661-6596

IS - 4

M1 - 2231

ER -