ArticlePLoS genetics2013
Mutations in LRRC50 predispose zebrafish and humans to seminomas.
Article in PLoS genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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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.
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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
24 citing papers in PubMed, 41 citations in OpenAlex.
- Exome sequencing-based identification ofFrontiers in molecular biosciences · 2026Article
- Driving precision medicine in testicular germ cell tumors: from preclinical models to clinical applications.Therapeutic advances in medical oncology · 2026Review
- Zebrafish xenografts in breast cancer research.Frontiers in immunology · 2025Review
- Zebrafish-A Suitable Model for Rapid Translation of Effective Therapies for Pediatric Cancers.Cancers · 2024Review
- Zebrafish-based platform for emerging bio-contaminants and virus inactivation research.The Science of the total environment · 2023Review
- What Zebrafish and Nanotechnology Can Offer for Cancer Treatments in the Age of Personalized Medicine.Cancers · 2022Review
- Genetic Engineering of Zebrafish in Cancer Research.Cancers · 2020Review
- Predicting Gonadal Germ Cell Cancer in People with Disorders of Sex Development; Insights from Developmental Biology.International journal of molecular sciences · 2019Review
- Human germ cell tumours from a developmental perspective.Nature reviews. Cancer · 2019Review
- Identification of testicular cancer driver genes by a cross-species comparative oncology approach.Andrology · 2019Article
- Human Germ Cell Tumors are Developmental Cancers: Impact of Epigenetics on Pathobiology and Clinic.International journal of molecular sciences · 2019Review
- DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.Human molecular genetics · 2018Article
- Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility.Nature communications · 2016Article
- Mutations in the Motile Cilia Gene DNAAF1 Are Associated with Neural Tube Defects in Humans.G3 (Bethesda, Md.) · 2016Article
- Whole-exome sequencing identifies variants in invasive pituitary adenomas.Oncology letters · 2016Article
- Mutations in Dnaaf1 and Lrrc48 Cause Hydrocephalus, Laterality Defects, and Sinusitis in Mice.G3 (Bethesda, Md.) · 2016Article
- The genomic landscape of testicular germ cell tumours: from susceptibility to treatment.Nature reviews. Urology · 2016Review
- Zebrafish as a Model for Human Ciliopathies.Journal of genetics and genomics = Yi chuan xue bao · 2016Review
- Zebrafish Germ Cell Tumors.Advances in experimental medicine and biology · 2016Review
- A fresh look at zebrafish from the perspective of cancer research.Journal of experimental & clinical cancer research : CR · 2015Review
Corrections and comments
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Authors and funding
17 authors at 5 institutions in 2 countries.
Funding
Abstract
Seminoma is a subclass of human testicular germ cell tumors (TGCT), the most frequently observed cancer in young men with a rising incidence. Here we describe the identification of a novel gene predisposing specifically to seminoma formation in a vertebrate model organism. Zebrafish carrying a heterozygous nonsense mutation in Leucine-Rich Repeat Containing protein 50 (lrrc50 also called dnaaf1), associated previously with ciliary function, are found to be highly susceptible to the formation of seminomas. Genotyping of these zebrafish tumors shows loss of heterozygosity (LOH) of the wild-type lrrc50 allele in 44.4% of tumor samples, correlating with tumor progression. In humans we identified heterozygous germline LRRC50 mutations in two different pedigrees with a family history of seminomas, resulting in a nonsense Arg488* change and a missense Thr590Met change, which show reduced expression of the wild-type allele in seminomas. Zebrafish in vivo complementation studies indicate the Thr590Met to be a loss-of-function mutation. Moreover, we show that a pathogenic Gln307Glu change is significantly enriched in individuals with seminoma tumors (13% of our cohort). Together, our study introduces an animal model for seminoma and suggests LRRC50 to be a novel tumor suppressor implicated in human seminoma pathogenesis.
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Registered trials
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.