A novel mouse allele of the DNA/RNA helicase senataxin (Setxspcar3) causing meiotic arrest of spermatocytes and male infertility Article Swipe
Yasuhiro Fujiwara
,
Kouhei Saito
,
Fengyun Sun
,
Sabrina Petri
,
Erina Inoue
,
John C. Schimenti
,
Yuki Okada
,
Mary Ann Handel
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1101/2023.04.12.536672
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1101/2023.04.12.536672
An unbiased screen for discovering novel genes for fertility identified the spcar3, spermatocyte arrest 3, mutant phenotype. The spcar3 mutation identified a new allele of the Setx gene, encoding senataxin, a DNA/RNA helicase that regulates transcription termination by resolving DNA/RNA hybrid R-loop structures. Although mutations in the human SETX gene cause neural disorders, Setx spcar3 mutant mice do not show any apparent neural phenotype, but instead exhibit male infertility and female subfertility. Histology of the Setx spcar3 mutant testes revealed absence of spermatids and mature spermatozoa in the seminiferous tubules. Cytological analysis of chromosome spread preparations of the Setx spcar3 mutant spermatocytes revealed normal synapsis, but aberrant DNA damage in the autosomes, and defective formation of the sex body. Furthermore, Setx spcar3 testicular cells exhibited abnormal accumulation of R-loops compared to wild type testicular cells. Transient expression assays identified regions of the senataxin protein required for sub-nuclear localization. Together, these results not only confirm that senataxin is required for normal meiosis and spermatogenesis but also provide a new resource for determination of its role in maintaining R-loop formation and genome integrity.
Related Topics
Concepts
Biology
RNA Helicase A
Genetics
Gene
Mutant
Male infertility
Meiosis
Helicase
RNA
Molecular biology
Cell biology
Infertility
Pregnancy
Metadata
- Type
- preprint
- Language
- en
- Landing Page
- https://doi.org/10.1101/2023.04.12.536672
- https://www.biorxiv.org/content/biorxiv/early/2023/04/13/2023.04.12.536672.full.pdf
- OA Status
- green
- References
- 71
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4366085717
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4366085717Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1101/2023.04.12.536672Digital Object Identifier
- Title
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A novel mouse allele of the DNA/RNA helicase senataxin (Setxspcar3) causing meiotic arrest of spermatocytes and male infertilityWork title
- Type
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preprintOpenAlex work type
- Language
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enPrimary language
- Publication year
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2023Year of publication
- Publication date
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2023-04-13Full publication date if available
- Authors
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Yasuhiro Fujiwara, Kouhei Saito, Fengyun Sun, Sabrina Petri, Erina Inoue, John C. Schimenti, Yuki Okada, Mary Ann HandelList of authors in order
- Landing page
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https://doi.org/10.1101/2023.04.12.536672Publisher landing page
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https://www.biorxiv.org/content/biorxiv/early/2023/04/13/2023.04.12.536672.full.pdfDirect link to full text PDF
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YesWhether a free full text is available
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greenOpen access status per OpenAlex
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https://www.biorxiv.org/content/biorxiv/early/2023/04/13/2023.04.12.536672.full.pdfDirect OA link when available
- Concepts
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Biology, RNA Helicase A, Genetics, Gene, Mutant, Male infertility, Meiosis, Helicase, RNA, Molecular biology, Cell biology, Infertility, PregnancyTop concepts (fields/topics) attached by OpenAlex
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0Total citation count in OpenAlex
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71Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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