Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function Article Swipe
Zhiwen Xu
,
Wing‐Sze Lo
,
David B. Beck
,
Luise A. Schuch
,
Monika Oláhová
,
Robert Kopajtich
,
Yeeting E. Chong
,
Charlotte L. Alston
,
Elias Seidl
,
Liting Zhai
,
Ching-Fun Lau
,
Donna M. Timchak
,
Charles A. LeDuc
,
Alain Borczuk
,
Andrew F. Teich
,
Jane Juusola
,
Christina Sofeso
,
Christoph Müller
,
Germaine Pierre
,
Tom Hilliard
,
Peter D. Turnpenny
,
Matias Wagner
,
Matthias Kappler
,
Frank Brasch
,
John Paul Bouffard
,
Leslie A. Nangle
,
Xiang‐Lei Yang
,
Mingjie Zhang
,
Robert W. Taylor
,
Holger Prokisch
,
Matthias Griese
,
Wendy K. Chung
,
Paul Schimmel
·
YOU?
·
· 2018
· Open Access
·
· DOI: https://doi.org/10.1016/j.ajhg.2018.06.006
YOU?
·
· 2018
· Open Access
·
· DOI: https://doi.org/10.1016/j.ajhg.2018.06.006
The tRNA synthetases catalyze the first step of protein synthesis and have increasingly been studied for their nuclear and extra-cellular ex-translational activities. Human genetic conditions such as Charcot-Marie-Tooth have been attributed to dominant gain-of-function mutations in some tRNA synthetases. Unlike dominantly inherited gain-of-function mutations, recessive loss-of-function mutations can potentially elucidate ex-translational activities. We present here five individuals from four families with a multi-system disease associated with bi-allelic mutations in FARSB that encodes the beta chain of the alpha2beta2 phenylalanine-tRNA synthetase (FARS). Collectively, the mutant alleles encompass a 5'-splice junction non-coding variant (SJV) and six missense variants, one of which is shared by unrelated individuals. The clinical condition is characterized by interstitial lung disease, cerebral aneurysms and brain calcifications, and cirrhosis. For the SJV, we confirmed exon skipping leading to a frameshift associated with noncatalytic activity. While the bi-allelic combination of the SJV with a p.Arg305Gln missense mutation in two individuals led to severe disease, cells from neither the asymptomatic heterozygous carriers nor the compound heterozygous affected individual had any defect in protein synthesis. These results support a disease mechanism independent of tRNA synthetase activities in protein translation and suggest that this FARS activity is essential for normal function in multiple organs.
Related Topics
Concepts
Transfer RNA
Allele
Genetics
Disease
Biology
Function (biology)
Aminoacyl tRNA synthetase
Medicine
Gene
RNA
Internal medicine
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1016/j.ajhg.2018.06.006
- http://www.cell.com/article/S000292971830199X/pdf
- OA Status
- hybrid
- Cited By
- 48
- References
- 56
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2820665587
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W2820665587Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1016/j.ajhg.2018.06.006Digital Object Identifier
- Title
-
Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational FunctionWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2018Year of publication
- Publication date
-
2018-07-01Full publication date if available
- Authors
-
Zhiwen Xu, Wing‐Sze Lo, David B. Beck, Luise A. Schuch, Monika Oláhová, Robert Kopajtich, Yeeting E. Chong, Charlotte L. Alston, Elias Seidl, Liting Zhai, Ching-Fun Lau, Donna M. Timchak, Charles A. LeDuc, Alain Borczuk, Andrew F. Teich, Jane Juusola, Christina Sofeso, Christoph Müller, Germaine Pierre, Tom Hilliard, Peter D. Turnpenny, Matias Wagner, Matthias Kappler, Frank Brasch, John Paul Bouffard, Leslie A. Nangle, Xiang‐Lei Yang, Mingjie Zhang, Robert W. Taylor, Holger Prokisch, Matthias Griese, Wendy K. Chung, Paul SchimmelList of authors in order
- Landing page
-
https://doi.org/10.1016/j.ajhg.2018.06.006Publisher landing page
- PDF URL
-
https://www.cell.com/article/S000292971830199X/pdfDirect link to full text PDF
- Open access
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YesWhether a free full text is available
- OA status
-
hybridOpen access status per OpenAlex
- OA URL
-
https://www.cell.com/article/S000292971830199X/pdfDirect OA link when available
- Concepts
-
Transfer RNA, Allele, Genetics, Disease, Biology, Function (biology), Aminoacyl tRNA synthetase, Medicine, Gene, RNA, Internal medicineTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
48Total citation count in OpenAlex
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2025: 5, 2024: 8, 2023: 6, 2022: 7, 2021: 8Per-year citation counts (last 5 years)
- References (count)
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56Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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| primary_location.source.host_organization_name | Elsevier BV |
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| primary_location.source.host_organization_lineage_names | Elsevier BV |
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| primary_location.pdf_url | http://www.cell.com/article/S000292971830199X/pdf |
| primary_location.version | publishedVersion |
| primary_location.raw_type | journal-article |
| primary_location.license_id | https://openalex.org/licenses/cc-by |
| primary_location.is_accepted | True |
| primary_location.is_published | True |
| primary_location.raw_source_name | The American Journal of Human Genetics |
| primary_location.landing_page_url | https://doi.org/10.1016/j.ajhg.2018.06.006 |
| publication_date | 2018-07-01 |
| publication_year | 2018 |
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| abstract_inverted_index.For | 120 |
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| abstract_inverted_index.six | 93 |
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| abstract_inverted_index.this | 190 |
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| institutions_distinct_count | 33 |
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