ZSWIM7Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency Article Swipe
Sinead McGlacken‐Byrne
,
Polona Le Quesne Stabej
,
Ignacio del Valle
,
Louise Ocaka
,
Andrey Gagunashvili
,
Berta Crespo
,
Nadjeda Moreno
,
Chela James
,
Chiara Bacchelli
,
Mehul Dattani
,
Hywel Williams
,
Daniel Kelberman
,
John C. Achermann
,
Gerard S. Conway
·
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1210/clinem/dgab597
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1210/clinem/dgab597
Background Primary ovarian insufficiency (POI) affects 1% of women and is associated with significant medical consequences. A genetic cause for POI can be found in up to 30% of women, elucidating key roles for these genes in human ovary development. Objective We aimed to identify the genetic mechanism underlying early-onset POI in 2 sisters from a consanguineous pedigree. Methods Genome sequencing and variant filtering using an autosomal recessive model was performed in the 2 affected sisters and their unaffected family members. Quantitative reverse transcriptase PCR (qRT-PCR) and RNA sequencing were used to study the expression of key genes at critical stages of human fetal gonad development (Carnegie Stage 22/23, 9 weeks post conception (wpc), 11 wpc, 15/16 wpc, 19/20 wpc) and in adult tissue. Results Only 1 homozygous variant cosegregating with the POI phenotype was found: a single nucleotide substitution in zinc finger SWIM-type containing 7 (ZSWIM7), NM_001042697.2: c.173C > G; resulting in predicted loss-of-function p.(Ser58*). qRT-PCR demonstrated higher expression of ZSWIM7 in the 15/16 wpc ovary compared with testis, corresponding to peak meiosis in the fetal ovary. RNA sequencing of fetal gonad samples showed that ZSWIM7 has a similar temporal expression profile in the developing ovary to other homologous recombination genes. Main conclusions Disruption of ZSWIM7 is associated with POI in humans. ZSWIM7 is likely to be important for human homologous recombination; these findings expand the range of genes associated with POI in women.
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- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1210/clinem/dgab597
- https://academic.oup.com/jcem/article-pdf/107/1/e254/41819432/dgab597.pdf
- OA Status
- hybrid
- Cited By
- 41
- References
- 66
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3193780419
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W3193780419Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1210/clinem/dgab597Digital Object Identifier
- Title
-
ZSWIM7Is Associated With Human Female Meiosis and Familial Primary Ovarian InsufficiencyWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2021Year of publication
- Publication date
-
2021-08-17Full publication date if available
- Authors
-
Sinead McGlacken‐Byrne, Polona Le Quesne Stabej, Ignacio del Valle, Louise Ocaka, Andrey Gagunashvili, Berta Crespo, Nadjeda Moreno, Chela James, Chiara Bacchelli, Mehul Dattani, Hywel Williams, Daniel Kelberman, John C. Achermann, Gerard S. ConwayList of authors in order
- Landing page
-
https://doi.org/10.1210/clinem/dgab597Publisher landing page
- PDF URL
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https://academic.oup.com/jcem/article-pdf/107/1/e254/41819432/dgab597.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
hybridOpen access status per OpenAlex
- OA URL
-
https://academic.oup.com/jcem/article-pdf/107/1/e254/41819432/dgab597.pdfDirect OA link when available
- Concepts
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Biology, Premature ovarian insufficiency, Ovary, Homologous recombination, Gene, Genetics, Gonad, Homologous chromosome, Meiosis, Human genome, Phenotype, Development of the gonads, Andrology, Genome, Endocrinology, Internal medicine, MedicineTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
41Total citation count in OpenAlex
- Citations by year (recent)
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2025: 5, 2024: 24, 2023: 7, 2022: 3, 2021: 2Per-year citation counts (last 5 years)
- References (count)
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66Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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