Detecting and Validating MAPT Mutations in Neurodegeneration Patients and Analysis of Exon Splicing Consequences
© 2024. The Author(s), under exclusive license to Springer Science+Business Media, LLC, part of Springer Nature..
Mutation of MAPT has been observed in patients with parkinsonism, progressive supranuclear palsy, and corticobasal degeneration and is a significant cause of frontotemporal dementia. In this chapter, we discuss considerations for next-generation sequencing analysis to identify MAPT mutations in patient genomic DNA and describe the validation of these mutations by Sanger sequencing. One of the most common effects of MAPT mutations is differential splicing of exon 10, which leads to an imbalance in the proportion of 3-repeat and 4-repeat tau isoforms. We describe how to investigate the effect of novel DNA variants on the splicing efficiency of this exon in vitro using the exon-trapping technique, also known as the splicing reporter minigene assay.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:2754 |
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| Enthalten in: |
Methods in molecular biology (Clifton, N.J.) - 2754(2024) vom: 21., Seite 411-433 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Dobson-Stone, Carol [VerfasserIn] |
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| Links: |
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| Anmerkungen: |
Date Completed 25.03.2024 Date Revised 25.03.2024 published: Print Citation Status MEDLINE |
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| doi: |
10.1007/978-1-0716-3629-9_22 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM370022564 |
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| 520 | |a Mutation of MAPT has been observed in patients with parkinsonism, progressive supranuclear palsy, and corticobasal degeneration and is a significant cause of frontotemporal dementia. In this chapter, we discuss considerations for next-generation sequencing analysis to identify MAPT mutations in patient genomic DNA and describe the validation of these mutations by Sanger sequencing. One of the most common effects of MAPT mutations is differential splicing of exon 10, which leads to an imbalance in the proportion of 3-repeat and 4-repeat tau isoforms. We describe how to investigate the effect of novel DNA variants on the splicing efficiency of this exon in vitro using the exon-trapping technique, also known as the splicing reporter minigene assay | ||
| 650 | 4 | |a Journal Article | |
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| 650 | 4 | |a Heterozygote detection | |
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| 650 | 4 | |a Polymerase chain reaction | |
| 650 | 4 | |a Sanger sequencingSanger sequencing | |
| 650 | 4 | |a Splicing reporter minigene assay | |
| 650 | 4 | |a Whole exome sequencingWhole exome sequencing (WES) | |
| 650 | 4 | |a Whole genome sequencingWhole genome sequencing (WGS) | |
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| 700 | 1 | |a Kwok, John B |e verfasserin |4 aut | |
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