ArticleMolecular and cellular biology2008
Parafibromin, a component of the human PAF complex, regulates growth factors and is required for embryonic development and survival in adult mice.
Article in Molecular and cellular biology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.
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Who cites it
55 citing papers in PubMed, 105 citations in OpenAlex.
- Insights into Hyperparathyroidism-Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum ofInternational journal of molecular sciences · 2024Review
- Phenotype of Parathyroid-targetedJournal of the Endocrine Society · 2024Article
- Cdc73 protects Notch-induced T-cell leukemia cells from DNA damage and mitochondrial stress.Blood · 2023Article
- Phenotypic Profiling and Molecular Mechanisms in Hyperparathyroidism-jaw Tumor Syndrome.The Journal of clinical endocrinology and metabolism · 2023Article
- Molecular and Clinical Spectrum of Primary Hyperparathyroidism.Endocrine reviews · 2023Article
- Parafibromin governs cell polarity and centrosome assembly in Drosophila neural stem cells.PLoS biology · 2022Article
- USP37 Deubiquitinates CDC73 in HPT-JT Syndrome.International journal of molecular sciences · 2022Article
- UBR5 targets tumor suppressor CDC73 proteolytically to promote aggressive breast cancer.Cell death & disease · 2022Article
- Distinct role of subunits of theFrontiers in plant science · 2022Article
- The roles of the tumor suppressor parafibromin in cancer.Frontiers in cell and developmental biology · 2022Review
- The cell surface hyaluronidase TMEM2 is essential for systemic hyaluronan catabolism and turnover.The Journal of biological chemistry · 2021Article
- First presentation of a frameshift mutation in the SETD2 gene of a juvenile psammomatoid ossifying fibroma (JPOF) associated with an aneurysmal bone cyst.Diagnostic pathology · 2021Article
- The Paf1 Complex: A Keystone of Nuclear Regulation Operating at the Interface of Transcription and Chromatin.Journal of molecular biology · 2021Review
- Parafibromin Abnormalities in Ossifying Fibroma.Journal of the Endocrine Society · 2021Article
- Toxic expanded GGGGCC repeat transcription is mediated by the PAF1 complex in C9orf72-associated FTD.Nature neuroscience · 2019Article
- The PAF1c Subunit CDC73 Is Required for Mouse Hematopoietic Stem Cell Maintenance but Displays Leukemia-Specific Gene Regulation.Stem cell reports · 2019Article
- PAF1 complex interactions with SETDB1 mediate promoter H3K9 methylation and transcriptional repression ofOncotarget · 2018Article
- 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
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Authors and funding
13 authors at 6 institutions in 3 countries.
Funding
Abstract
Parafibromin, a transcription factor associated with the PAF complex, is encoded by the HRPT2 gene, mutations of which cause the hyperparathyroidism-jaw tumor syndrome (OMIM145001). To elucidate the function of parafibromin, we generated conventional and conditional Hrpt2 knockout mice and found that Hrpt2(-/-) mice were embryonic lethal by embryonic day 6.5 (E6.5). Controlled deletion of Hrpt2 after E8.5 resulted in apoptosis and growth retardation. Deletion of Hrpt2 in adult mice led to severe cachexia and death within 20 days. To explore the mechanism underlying the embryonic lethality and death of adult mice, mouse embryonic fibroblasts (MEFs) were cultured and Hrpt2 was deleted in vitro. Hrpt2(-/-) MEFs underwent apoptosis, while Hrpt2(+/+) and Hrpt2(+/-) MEFs grew normally. To study the mechanism of this apoptosis, Hrpt2(+/+) and Hrpt2(-/-) MEFs were used in cDNA microarray, semiquantitative reverse transcription-PCR, and chromatin immunoprecipitation assays to identify genes regulated by parafibromin. These revealed that Hrpt2 expression and the parafibromin/PAF complex directly regulate genes involved in cell growth and survival, including H19, Igf1, Igf2, Igfbp4, Hmga1, Hmga2, and Hmgcs2. Thus, our results show that expression of Hrpt2 and parafibromin is pivotal in mammalian development and survival in adults and that these functions are likely mediated by the transcriptional regulation of growth factors.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.