Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans Article Swipe
Sally C. Fletcher
,
Charlotte Hall
,
Tristan J. Kennedy
,
Sander Pajusalu
,
Monica H. Wojcik
,
Uncaar Boora
,
Chan Li
,
Kaisa Teele Oja
,
Eline Hendrix
,
Christian A. E. Westrip
,
Regina Andrijes
,
Sonia K. Piasecka
,
Mansi Dass Singh
,
Mohammed E. El‐Asrag
,
Anetta Ptasinska
,
Vallo Tillmann
,
Martin R. Higgs
,
Deanna Alexis Carere
,
Andrew D. Beggs
,
John Pappas
,
Rachel Rabin
,
Stephen J. Smerdon
,
Grant S. Stewart
,
Katrin Õunap
,
Mathew L. Coleman
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1172/jci152784
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1172/jci152784
Although protein hydroxylation is a relatively poorly characterized posttranslational modification, it has received significant recent attention following seminal work uncovering its role in oxygen sensing and hypoxia biology. Although the fundamental importance of protein hydroxylases in biology is becoming clear, the biochemical targets and cellular functions often remain enigmatic. JMJD5 is a "JmjC-only" protein hydroxylase that is essential for murine embryonic development and viability. However, no germline variants in JmjC-only hydroxylases, including JMJD5, have yet been described that are associated with any human pathology. Here we demonstrate that biallelic germline JMJD5 pathogenic variants are deleterious to JMJD5 mRNA splicing, protein stability, and hydroxylase activity, resulting in a human developmental disorder characterized by severe failure to thrive, intellectual disability, and facial dysmorphism. We show that the underlying cellular phenotype is associated with increased DNA replication stress and that this is critically dependent on the protein hydroxylase activity of JMJD5. This work contributes to our growing understanding of the role and importance of protein hydroxylases in human development and disease.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1172/jci152784
- http://www.jci.org/articles/view/152784/files/pdf
- OA Status
- gold
- Cited By
- 6
- References
- 47
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4321004743
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4321004743Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1172/jci152784Digital Object Identifier
- Title
-
Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humansWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
-
2023Year of publication
- Publication date
-
2023-02-16Full publication date if available
- Authors
-
Sally C. Fletcher, Charlotte Hall, Tristan J. Kennedy, Sander Pajusalu, Monica H. Wojcik, Uncaar Boora, Chan Li, Kaisa Teele Oja, Eline Hendrix, Christian A. E. Westrip, Regina Andrijes, Sonia K. Piasecka, Mansi Dass Singh, Mohammed E. El‐Asrag, Anetta Ptasinska, Vallo Tillmann, Martin R. Higgs, Deanna Alexis Carere, Andrew D. Beggs, John Pappas, Rachel Rabin, Stephen J. Smerdon, Grant S. Stewart, Katrin Õunap, Mathew L. ColemanList of authors in order
- Landing page
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https://doi.org/10.1172/jci152784Publisher landing page
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https://www.jci.org/articles/view/152784/files/pdfDirect link to full text PDF
- Open access
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YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
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https://www.jci.org/articles/view/152784/files/pdfDirect OA link when available
- Concepts
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Biology, Germline, Genetics, Phenotype, Gene, DNA replication, RNA splicing, Cell biology, RNATop concepts (fields/topics) attached by OpenAlex
- Cited by
-
6Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 3, 2024: 1, 2023: 2Per-year citation counts (last 5 years)
- References (count)
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47Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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