Bitte benutzen Sie diese Kennung, um auf die Ressource zu verweisen:
https://doi.org/10.21256/zhaw-27409| Publikationstyp: | Beitrag in wissenschaftlicher Zeitschrift |
| Art der Begutachtung: | Open peer review |
| Titel: | A novel hypervariable variable number tandem repeat in the dopamine transporter gene (SLC6A3) |
| Autor/-in: | Apsley, Abner T. Domico, Emma R. Verbiest, Max A. Brogan, Carly A. Buck, Evan R. Burich, Andrew J. Cardone, Kathleen M. Stone, Wesley J. Anisimova, Maria Vandenbergh, David J. |
| et. al: | No |
| DOI: | 10.26508/lsa.202201677 10.21256/zhaw-27409 |
| Erschienen in: | Life Science Alliance |
| Band(Heft): | 6 |
| Heft: | 4 |
| Seite(n): | e202201677 |
| Erscheinungsdatum: | Apr-2023 |
| Verlag / Hrsg. Institution: | Life Science Alliance |
| ISSN: | 2575-1077 |
| Sprache: | Englisch |
| Schlagwörter: | Allele; Haplotype; Intron; Human; Dopamine plasma membrane transport protein; Minisatellite repeat |
| Fachgebiet (DDC): | 572: Biochemie |
| Zusammenfassung: | The dopamine transporter gene, SLC6A3, has received substantial attention in genetic association studies of various phenotypes. Although some variable number tandem repeats (VNTRs) present in SLC6A3 have been tested in genetic association studies, results have not been consistent. VNTRs in SLC6A3 that have not been examined genetically were characterized. The Tandem Repeat Annotation Library was used to characterize the VNTRs of 64 unrelated long-read haplotype-phased SLC6A3 sequences. Sequence similarity of each repeat unit of the five VNTRs is reported, along with the correlations of SNP-SNP, SNP-VNTR, and VNTR-VNTR alleles across the gene. One of these VNTRs is a novel hyper-VNTR (hyVNTR) in intron 8 of SLC6A3, which contains a range of 3.4-133.4 repeat copies and has a consensus sequence length of 38 bp, with 82% G+C content. The 38-base repeat was predicted to form G-quadruplexes in silico and was confirmed by circular dichroism spectroscopy. In addition, this hyVNTR contains multiple putative binding sites for PRDM9, which, in combination with low levels of linkage disequilibrium around the hyVNTR, suggests it might be a recombination hotspot. |
| URI: | https://digitalcollection.zhaw.ch/handle/11475/27409 |
| Volltext Version: | Publizierte Version |
| Lizenz (gemäss Verlagsvertrag): | CC BY 4.0: Namensnennung 4.0 International |
| Departement: | Life Sciences und Facility Management |
| Organisationseinheit: | Institut für Computational Life Sciences (ICLS) |
| Publiziert im Rahmen des ZHAW-Projekts: | REFRACT – Repeat protein Function, Refinement, Annotation and Classification of Topologies |
| Enthalten in den Sammlungen: | Publikationen Life Sciences und Facility Management |
Dateien zu dieser Ressource:
| Datei | Beschreibung | Größe | Format | |
|---|---|---|---|---|
| 2023_Apsley-etal_Hypervariable-variable-number-tandem-repeat-SLC6A3.pdf | 2.25 MB | Adobe PDF |  Öffnen/Anzeigen |
Zur Langanzeige
Apsley, A. T., Domico, E. R., Verbiest, M. A., Brogan, C. A., Buck, E. R., Burich, A. J., Cardone, K. M., Stone, W. J., Anisimova, M., & Vandenbergh, D. J. (2023). A novel hypervariable variable number tandem repeat in the dopamine transporter gene (SLC6A3). Life Science Alliance, 6(4), e202201677. https://doi.org/10.26508/lsa.202201677
Apsley, A.T. et al. (2023) ‘A novel hypervariable variable number tandem repeat in the dopamine transporter gene (SLC6A3)’, Life Science Alliance, 6(4), p. e202201677. Available at: https://doi.org/10.26508/lsa.202201677.
A. T. Apsley et al., “A novel hypervariable variable number tandem repeat in the dopamine transporter gene (SLC6A3),” Life Science Alliance, vol. 6, no. 4, p. e202201677, Apr. 2023, doi: 10.26508/lsa.202201677.
APSLEY, Abner T., Emma R. DOMICO, Max A. VERBIEST, Carly A. BROGAN, Evan R. BUCK, Andrew J. BURICH, Kathleen M. CARDONE, Wesley J. STONE, Maria ANISIMOVA und David J. VANDENBERGH, 2023. A novel hypervariable variable number tandem repeat in the dopamine transporter gene (SLC6A3). Life Science Alliance. April 2023. Bd. 6, Nr. 4, S. e202201677. DOI 10.26508/lsa.202201677
Apsley, Abner T., Emma R. Domico, Max A. Verbiest, Carly A. Brogan, Evan R. Buck, Andrew J. Burich, Kathleen M. Cardone, Wesley J. Stone, Maria Anisimova, and David J. Vandenbergh. 2023. “A Novel Hypervariable Variable Number Tandem Repeat in the Dopamine Transporter Gene (SLC6A3).” Life Science Alliance 6 (4): e202201677. https://doi.org/10.26508/lsa.202201677.
Apsley, Abner T., et al. “A Novel Hypervariable Variable Number Tandem Repeat in the Dopamine Transporter Gene (SLC6A3).” Life Science Alliance, vol. 6, no. 4, Apr. 2023, p. e202201677, https://doi.org/10.26508/lsa.202201677.
Alle Ressourcen in diesem Repository sind urheberrechtlich geschützt, soweit nicht anderweitig angezeigt.