ArticlePloS one2013
Primary microcephaly gene MCPH1 shows signatures of tumor suppressors and is regulated by miR-27a in oral squamous cell carcinoma.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
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Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 50 citations in OpenAlex.
- A meta-analysis of multiple matched copy number and transcriptomics data sets for inferring gene regulatory relationships.PloS one · 2014Pooled it
- Serum miRNA-27a and miRNA-18b as potential predictive biomarkers of hepatitis C virus-associated hepatocellular carcinoma.Molecular and cellular biochemistry · 2018Trial
- Potentially Deleterious Nonsynonymous Single Nucleotide Polymorphisms (nsSNPs) in the HumanHuman mutation · 2026Article
- Intronic miR-6741-3p targets the oncogene SRSF3: Implications for oral squamous cell carcinoma pathogenesis.PloS one · 2024Article
- Salivary Biomarkers for Oral Cancer Detection: Insights from Human DNA and RNA Analysis.Cardiovascular & hematological agents in medicinal chemistry · 2024Review
- The emerging role of MCPH1/BRIT1 in carcinogenesis.Frontiers in oncology · 2023Review
- Prenatal Identification of a Novel Mutation in theChildren (Basel, Switzerland) · 2022Article
- Salivary exosomal microRNAs as biomarkers for head and neck cancer detection-a literature review.Maxillofacial plastic and reconstructive surgery · 2021Review
- Cancer-associated mutations in the condensin II subunit CAPH2 cause genomic instability through telomere dysfunction and anaphase chromosome bridges.Journal of cellular physiology · 2021Article
- The N-terminal BRCT domain determines MCPH1 function in brain development and fertility.Cell death & disease · 2021Article
- Investigation of promoter methylation of MCPH1 gene in circulating cell-free DNA of brain tumor patients.Experimental brain research · 2020Article
- Analysis of the "centrosome-ome" identifies MCPH1 deletion as a cause of centrosome amplification in human cancer.Scientific reports · 2020Article
- BRIT1 dysfunction confers synergistic inhibition of hepatocellular carcinoma by targeting poly (ADP-ribose) polymerases and PI3K.American journal of cancer research · 2020Article
- MiR-27a: A Novel Biomarker and Potential Therapeutic Target in Tumors.Journal of Cancer · 2019Review
- Silencing BRIT1 Facilitates the Abilities of Invasiveness and Migration in Trophoblast Cells.Medical science monitor : international medical journal of experimental and clinical research · 2018Article
- Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH).Genetics research · 2018Review
- Salivary extracellular vesicle-associated miRNAs as potential biomarkers in oral squamous cell carcinoma.BMC cancer · 2018Article
- Overexpression of MCPH1 inhibits the migration and invasion of lung cancer cells.OncoTargets and therapy · 2018Article
- A Looking-Glass of Non-coding RNAs in oral cancer.International journal of molecular sciences · 2017Review
- PIK3CA mutations are common in lobular carcinoma in situ, but are not a biomarker of progression.Breast cancer research : BCR · 2017Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the MCPH1 (microcephalin 1) gene, located at chromosome 8p23.1, result in two autosomal recessive disorders: primary microcephaly and premature chromosome condensation syndrome. MCPH1 has also been shown to be downregulated in breast, prostate and ovarian cancers, and mutated in 1/10 breast and 5/41 endometrial tumors, suggesting that it could also function as a tumor suppressor (TS) gene. To test the possibility of MCPH1 as a TS gene, we first performed LOH study in a panel of 81 matched normal oral tissues and oral squamous cell carcinoma (OSCC) samples, and observed that 14/71 (19.72%) informative samples showed LOH, a hallmark of TS genes. Three protein truncating mutations were identified in 1/15 OSCC samples and 2/5 cancer cell lines. MCPH1 was downregulated at both the transcript and protein levels in 21/41 (51.22%) and 19/25 (76%) OSCC samples respectively. A low level of MCPH1 promoter methylation was also observed in 4/40 (10%) tumor samples. We further observed that overexpression of MCPH1 decreased cellular proliferation, anchorage-independent growth in soft agar, cell invasion and tumor size in nude mice, indicating its tumor suppressive function. Using bioinformatic approaches and luciferase assay, we showed that the 3'-UTR of MCPH1 harbors two non-overlapping functional seed regions for miR-27a which negatively regulated its level. The expression level of miR-27a negatively correlated with the MCPH1 protein level in OSCC. Our study indicates for the first time that, in addition to its role in brain development, MCPH1 also functions as a tumor suppressor gene and is regulated by miR-27a.
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