ArticleThe Journal of clinical investigation2018
Mosaic-variegated aneuploidy syndrome mutation or haploinsufficiency in Cep57 impairs tumor suppression.
Article in The Journal of clinical investigation, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
14 citing papers in PubMed, 29 citations in OpenAlex.
- A novelJournal of pediatric endocrinology & metabolism : JPEM · 2026Article
- Mosaic variegated aneuploidy in development, ageing and cancer.Nature reviews. Genetics · 2024Review
- Update on Recommendations for Cancer Screening and Surveillance in Children with Genomic Instability Disorders.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Review
- Cep57 regulates human centrosomes through multivalent interactions.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Hyperphosphorylated PTEN exerts oncogenic properties.Nature communications · 2023Article
- Mosaic Variegated Aneuploidy Syndrome and Noonan Syndrome in the Same Family.Molecular syndromology · 2022Article
- Biallelic germline mutations in MAD1L1 induce a syndrome of aneuploidy with high tumor susceptibility.Science advances · 2022Article
- A novel CEP57 variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth.Molecular genetics & genomic medicine · 2022Article
- TRIM37 prevents formation of condensate-organized ectopic spindle poles to ensure mitotic fidelity.The Journal of cell biology · 2021Article
- Cep57 and Cep57L1 maintain centriole engagement in interphase to ensure centriole duplication cycle.The Journal of cell biology · 2021Article
- Requirement of the Cep57-Cep63 Interaction for Proper Cep152 Recruitment and Centriole Duplication.Molecular and cellular biology · 2020Article
- Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?Molecular genetics & genomic medicine · 2020Article
- Applications of Genome Editing Technology in Research on Chromosome Aneuploidy Disorders.Cells · 2020Review
- BubR1 allelic effects drive phenotypic heterogeneity in mosaic-variegated aneuploidy progeria syndrome.The Journal of clinical investigation · 2020Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
Abstract
A homozygous truncating frameshift mutation in CEP57 (CEP57T/T) has been identified in a subset of mosaic-variegated aneuploidy (MVA) patients; however, the physiological roles of the centrosome-associated protein CEP57 that contribute to disease are unknown. To investigate these, we have generated a mouse model mimicking this disease mutation. Cep57T/T mice died within 24 hours after birth with short, curly tails and severely impaired vertebral ossification. Osteoblasts in lumbosacral vertebrae of Cep57T/T mice were deficient for Fgf2, a Cep57 binding partner implicated in diverse biological processes, including bone formation. Furthermore, a broad spectrum of tissues of Cep57T/T mice had severe aneuploidy at birth, consistent with the MVA patient phenotype. Cep57T/T mouse embryonic fibroblasts and patient-derived skin fibroblasts failed to undergo centrosome maturation in G2 phase, causing premature centriole disjunction, centrosome amplification, aberrant spindle formation, and high rates of chromosome missegregation. Mice heterozygous for the truncating frameshift mutation or a Cep57-null allele were overtly indistinguishable from WT mice despite reduced Cep57 protein levels, yet prone to aneuploidization and cancer, with tumors lacking evidence for loss of heterozygosity. This study identifies Cep57 as a haploinsufficient tumor suppressor with biologically diverse roles in centrosome maturation and Fgf2-mediated bone formation.
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Registered trials
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