Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A Article Swipe
Andrew B. Stergachis
,
Elizabeth Blue
,
Madelyn A. Gillentine
,
Lee-kai Wang
,
Ulrike Schwarze
,
Adriana E. Sedeño-Cortés
,
Jane Ranchalis
,
Aimee Allworth
,
Austin E. Bland
,
Sirisak Chanprasert
,
Jingheng Chen
,
Daniel Doherty
,
Andrew B. Folta
,
Ian Glass
,
Martha Horike‐Pyne
,
Alden Huang
,
Alyna Khan
,
Kathleen A. Leppig
,
Danny E. Miller
,
Ghayda Mirzaa
,
Azma Parhin
,
Wendy H. Raskind
,
Elisabeth A. Rosenthal
,
Sam Sheppeard
,
Samuel Strohbehn
,
Virginia P. Sybert
,
Thao Tran
,
Mark H. Wener
,
Peter H. Byers
,
Stanley F. Nelson
,
Michael J. Bamshad
,
Katrina M. Dipple
,
Gail P. Jarvik
,
Suzanne Hoppins
,
Fuki M. Hisama
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1101/2023.02.07.526487
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1101/2023.02.07.526487
Objectives Transcript sequencing of patient derived samples has been shown to improve the diagnostic yield for solving cases of likely Mendelian disorders, yet the added benefit of full-length long-read transcript sequencing is largely unexplored. Methods We applied short-read and full-length isoform cDNA sequencing and mitochondrial functional studies to a patient-derived fibroblast cell line from an individual with neuropathy that previously lacked a molecular diagnosis. Results We identified an intronic homozygous MFN2 c.600-31T>G variant that disrupts a branch point critical for intron 6 spicing. Full-length long-read isoform cDNA sequencing after treatment with a nonsense-mediated mRNA decay (NMD) inhibitor revealed that this variant creates five distinct altered splicing transcripts. All five altered splicing transcripts have disrupted open reading frames and are subject to NMD. Furthermore, a patient-derived fibroblast line demonstrated abnormal lipid droplet formation, consistent with MFN2 dysfunction. Although correctly spliced full-length MFN2 transcripts are still produced, this branch point variant results in deficient MFN2 protein levels and autosomal recessive Charcot-Marie-Tooth disease, axonal, type 2A (CMT2A). Discussion This case highlights the utility of full-length isoform sequencing for characterizing the molecular mechanism of undiagnosed rare diseases and expands our understanding of the genetic basis for CMT2A.
Related Topics
Concepts
Biology
Gene isoform
Alternative splicing
RNA splicing
Genetics
Intron
MFN2
Nonsense-mediated decay
Complementary DNA
Gene
Computational biology
Mitochondrial DNA
RNA
mitochondrial fusion
Metadata
- Type
- preprint
- Language
- en
- Landing Page
- https://doi.org/10.1101/2023.02.07.526487
- https://www.biorxiv.org/content/biorxiv/early/2023/02/07/2023.02.07.526487.full.pdf
- OA Status
- green
- References
- 16
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4319602755
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4319602755Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1101/2023.02.07.526487Digital Object Identifier
- Title
-
Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2AWork title
- Type
-
preprintOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2023Year of publication
- Publication date
-
2023-02-07Full publication date if available
- Authors
-
Andrew B. Stergachis, Elizabeth Blue, Madelyn A. Gillentine, Lee-kai Wang, Ulrike Schwarze, Adriana E. Sedeño-Cortés, Jane Ranchalis, Aimee Allworth, Austin E. Bland, Sirisak Chanprasert, Jingheng Chen, Daniel Doherty, Andrew B. Folta, Ian Glass, Martha Horike‐Pyne, Alden Huang, Alyna Khan, Kathleen A. Leppig, Danny E. Miller, Ghayda Mirzaa, Azma Parhin, Wendy H. Raskind, Elisabeth A. Rosenthal, Sam Sheppeard, Samuel Strohbehn, Virginia P. Sybert, Thao Tran, Mark H. Wener, Peter H. Byers, Stanley F. Nelson, Michael J. Bamshad, Katrina M. Dipple, Gail P. Jarvik, Suzanne Hoppins, Fuki M. HisamaList of authors in order
- Landing page
-
https://doi.org/10.1101/2023.02.07.526487Publisher landing page
- PDF URL
-
https://www.biorxiv.org/content/biorxiv/early/2023/02/07/2023.02.07.526487.full.pdfDirect link to full text PDF
- Open access
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YesWhether a free full text is available
- OA status
-
greenOpen access status per OpenAlex
- OA URL
-
https://www.biorxiv.org/content/biorxiv/early/2023/02/07/2023.02.07.526487.full.pdfDirect OA link when available
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Biology, Gene isoform, Alternative splicing, RNA splicing, Genetics, Intron, MFN2, Nonsense-mediated decay, Complementary DNA, Gene, Computational biology, Mitochondrial DNA, RNA, mitochondrial fusionTop concepts (fields/topics) attached by OpenAlex
- Cited by
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0Total citation count in OpenAlex
- References (count)
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16Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.with | 57, 91, 134 |
| abstract_inverted_index.(NMD) | 96 |
| abstract_inverted_index.added | 25 |
| abstract_inverted_index.after | 89 |
| abstract_inverted_index.basis | 191 |
| abstract_inverted_index.cases | 18 |
| abstract_inverted_index.decay | 95 |
| abstract_inverted_index.lipid | 130 |
| abstract_inverted_index.point | 78, 148 |
| abstract_inverted_index.shown | 10 |
| abstract_inverted_index.still | 144 |
| abstract_inverted_index.yield | 15 |
| abstract_inverted_index.CMT2A. | 193 |
| abstract_inverted_index.branch | 77, 147 |
| abstract_inverted_index.frames | 117 |
| abstract_inverted_index.intron | 81 |
| abstract_inverted_index.lacked | 61 |
| abstract_inverted_index.levels | 155 |
| abstract_inverted_index.likely | 20 |
| abstract_inverted_index.Methods | 35 |
| abstract_inverted_index.Results | 65 |
| abstract_inverted_index.altered | 105, 110 |
| abstract_inverted_index.applied | 37 |
| abstract_inverted_index.axonal, | 161 |
| abstract_inverted_index.benefit | 26 |
| abstract_inverted_index.creates | 102 |
| abstract_inverted_index.derived | 6 |
| abstract_inverted_index.droplet | 131 |
| abstract_inverted_index.expands | 185 |
| abstract_inverted_index.genetic | 190 |
| abstract_inverted_index.improve | 12 |
| abstract_inverted_index.isoform | 41, 86, 173 |
| abstract_inverted_index.largely | 33 |
| abstract_inverted_index.patient | 5 |
| abstract_inverted_index.protein | 154 |
| abstract_inverted_index.reading | 116 |
| abstract_inverted_index.results | 150 |
| abstract_inverted_index.samples | 7 |
| abstract_inverted_index.solving | 17 |
| abstract_inverted_index.spliced | 139 |
| abstract_inverted_index.studies | 47 |
| abstract_inverted_index.subject | 120 |
| abstract_inverted_index.utility | 170 |
| abstract_inverted_index.variant | 73, 101, 149 |
| abstract_inverted_index.(CMT2A). | 164 |
| abstract_inverted_index.Abstract | 0 |
| abstract_inverted_index.Although | 137 |
| abstract_inverted_index.abnormal | 129 |
| abstract_inverted_index.critical | 79 |
| abstract_inverted_index.disease, | 160 |
| abstract_inverted_index.diseases | 183 |
| abstract_inverted_index.disrupts | 75 |
| abstract_inverted_index.distinct | 104 |
| abstract_inverted_index.intronic | 69 |
| abstract_inverted_index.revealed | 98 |
| abstract_inverted_index.spicing. | 83 |
| abstract_inverted_index.splicing | 106, 111 |
| abstract_inverted_index.Mendelian | 21 |
| abstract_inverted_index.autosomal | 157 |
| abstract_inverted_index.correctly | 138 |
| abstract_inverted_index.deficient | 152 |
| abstract_inverted_index.disrupted | 114 |
| abstract_inverted_index.inhibitor | 97 |
| abstract_inverted_index.long-read | 29, 85 |
| abstract_inverted_index.mechanism | 179 |
| abstract_inverted_index.molecular | 63, 178 |
| abstract_inverted_index.produced, | 145 |
| abstract_inverted_index.recessive | 158 |
| abstract_inverted_index.treatment | 90 |
| abstract_inverted_index.Discussion | 165 |
| abstract_inverted_index.Objectives | 1 |
| abstract_inverted_index.Transcript | 2 |
| abstract_inverted_index.consistent | 133 |
| abstract_inverted_index.diagnosis. | 64 |
| abstract_inverted_index.diagnostic | 14 |
| abstract_inverted_index.disorders, | 22 |
| abstract_inverted_index.fibroblast | 51, 126 |
| abstract_inverted_index.formation, | 132 |
| abstract_inverted_index.functional | 46 |
| abstract_inverted_index.highlights | 168 |
| abstract_inverted_index.homozygous | 70 |
| abstract_inverted_index.identified | 67 |
| abstract_inverted_index.individual | 56 |
| abstract_inverted_index.neuropathy | 58 |
| abstract_inverted_index.previously | 60 |
| abstract_inverted_index.sequencing | 3, 31, 43, 88, 174 |
| abstract_inverted_index.short-read | 38 |
| abstract_inverted_index.transcript | 30 |
| abstract_inverted_index.Full-length | 84 |
| abstract_inverted_index.full-length | 28, 40, 140, 172 |
| abstract_inverted_index.transcripts | 112, 142 |
| abstract_inverted_index.undiagnosed | 181 |
| abstract_inverted_index.unexplored. | 34 |
| abstract_inverted_index.Furthermore, | 123 |
| abstract_inverted_index.demonstrated | 128 |
| abstract_inverted_index.dysfunction. | 136 |
| abstract_inverted_index.transcripts. | 107 |
| abstract_inverted_index.mitochondrial | 45 |
| abstract_inverted_index.understanding | 187 |
| abstract_inverted_index.c.600-31T>G | 72 |
| abstract_inverted_index.characterizing | 176 |
| abstract_inverted_index.patient-derived | 50, 125 |
| abstract_inverted_index.nonsense-mediated | 93 |
| abstract_inverted_index.Charcot-Marie-Tooth | 159 |
| cited_by_percentile_year | |
| corresponding_author_ids | https://openalex.org/A5037964747, https://openalex.org/A5070469338 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 35 |
| corresponding_institution_ids | https://openalex.org/I201448701, https://openalex.org/I4210135134 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/4 |
| sustainable_development_goals[0].score | 0.6700000166893005 |
| sustainable_development_goals[0].display_name | Quality Education |
| citation_normalized_percentile.value | 0.01477903 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |