ArticlePloS one2014
Characterization of a new CDC73 missense mutation that impairs Parafibromin expression and nucleolar localization.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 31 citations in OpenAlex.
- Insights into Hyperparathyroidism-Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum ofInternational journal of molecular sciences · 2024Review
- Recurrent Primary Hyperparathyroidism in Hyperparathyroid Jaw Tumor Syndrome: A Case Report.Cureus · 2023Article
- Multiple Cemento-Ossifying Fibroma: A Sign of Hyperparathyroidism-Jaw Tumour Syndrome.Case reports in dentistry · 2023Article
- NKp44-Derived Peptide Used in Combination Stimulates Antineoplastic Efficacy of Targeted Therapeutic Drugs.International journal of molecular sciences · 2022Article
- A two-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family: clinical presentations, pathological characteristics and genetic analysis: a case report.Diagnostic pathology · 2022Article
- The roles of the tumor suppressor parafibromin in cancer.Frontiers in cell and developmental biology · 2022Review
- [The case of late diagnosis of giant parathyroid adenoma in combination with fibrocystic osteitis and brown tumor of the upper jaw: a case report].Problemy endokrinologii · 2021Article
- Genomics and Epigenomics in Parathyroid Neoplasia: from Bench to Surgical Pathology Practice.Endocrine pathology · 2021Review
- Hereditary Parathyroid Disease: Sometimes Pathologists Do Not Know What They Are Missing.Endocrine pathology · 2020Review
- Long-Term Outcomes of Parathyroidectomy in Hyperparathyroidism-Jaw Tumor Syndrome: Analysis of Five Families with CDC73 Mutations.World journal of surgery · 2020Article
- Parafibromin immunostainings of parathyroid tumors in clinical routine: a near-decade experience from a tertiary center.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2019Article
- Clinical Features, Treatment, and Surveillance of Hyperparathyroidism-Jaw Tumor Syndrome: An Up-to-Date and Review of the Literature.International journal of endocrinology · 2019Review
- Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.Human mutation · 2017Review
- Crystal structure of the N-terminal domain of human CDC73 and its implications for the hyperparathyroidism-jaw tumor (HPT-JT) syndrome.Scientific reports · 2017Article
- The clinicopathological and prognostic significances ofOncotarget · 2017Article
- Article
- Hereditary hyperparathyroidism--a consensus report of the European Society of Endocrine Surgeons (ESES).Langenbeck's archives of surgery · 2015Review
- The clinicopathological significances and biological functions of parafibromin expression in head and neck squamous cell carcinomas.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2015Article
- Ortleppascaris sp. and your host Rhinella marina: A proteomic view into a nematode-amphibian relationship.International journal for parasitology. Parasites and wildlife · 2014Article
- Non-functioning parathyroid cystic tumour: malignant or not? Report of a case.Il Giornale di chirurgiaArticle
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations of the Cell Division Cycle 73 (CDC73) tumor suppressor gene (previously known as HRPT2), encoding for parafibromin, are associated with the Hyperparathyroidism-Jaw Tumor (HPT-JT) syndrome, an autosomal dominant disease whose clinical manifestations are mainly parathyroid tumors and, less frequently, ossifying fibromas of the jaws, uterine and renal tumors. Most mutations of CDC73 are nonsense or frameshift, while missense mutations are rare and generally affect the N-terminal domain of parafibromin, a region that is still poorly characterized. The aim of this study was to characterize a novel somatic CDC73 missense mutation (Ile60Asn) identified in the mandibular tumor of a HPT-JT patient carrying a germline CDC73 inactivating mutation. Immunostaining of the tumor showed reduced nuclear parafibromin immunoreactivity. Western blotting and confocal microscopy of transfected cells demonstrated that the Ile60Asn mutant parafibromin was less expressed than the wild-type protein and exhibited impaired nucleolar localization. Treatment of transfected cells with translation and proteasome inhibitors demonstrated a decreased stability of the Ile60An mutant, partially due to an increase in proteasomal degradation. Overexpression of the Ile60Asn mutant led to increased cell proliferation and to accumulation in the G2/M phase of cell cycle. Moreover, mutant parafibromin lost the ability to down-regulate c-myc expression. In conclusion, our study shows that a missense mutation in the N-terminus of parafibromin, identified in an ossifying fibroma from a HPT-JT patient, stimulated cell proliferation and impaired parafibromin expression and nucleolar localization, suggesting a relevant role of the N-terminal domain for parafibromin function.
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