ArticleEBioMedicine2018
Functional validation of the albinism-associated tyrosinase T373K SNP by CRISPR/Cas9-mediated homology-directed repair (HDR) in rabbits.
Article in EBioMedicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed, 28 citations in OpenAlex.
- Strategies and considerations for the generation of ssDNA-Based HDR templates for CRISPR-based genome editing.BMC genomics · 2026Review
- Recent advances in gene delivery for melanocyte-associated disorders.Advanced drug delivery reviews · 2025Review
- The Role of Two Tyrosinase-Like Glycoenzymes in Defining the Final Hue of Parrot Plumage.Pigment cell & melanoma research · 2025Article
- Genome-edited rabbits: Unleashing the potential of a promising experimental animal model across diverse diseases.Zoological research · 2024Review
- Precise genome-editing in human diseases: mechanisms, strategies and applications.Signal transduction and targeted therapy · 2024Review
- New advances in CRISPR/Cas-mediated precise gene-editing techniques.Disease models & mechanisms · 2023Review
- USH2A Gene Mutations in Rabbits Lead to Progressive Retinal Degeneration and Hearing Loss.Translational vision science & technology · 2023Article
- Progress and prospects of nanozymes for enhanced antitumor therapy.Frontiers in chemistry · 2022Review
- Identification of Flowering Regulatory Networks and Hub Genes Expressed in the Leaves ofFrontiers in plant science · 2022Article
- HMEJ-mediated site-specific integration of a myostatin inhibitor increases skeletal muscle mass in porcine.Molecular therapy. Nucleic acids · 2021Article
- Novel Biallelic Variants and Phenotypic Features in Patients withInternational journal of molecular sciences · 2021Article
- Analysis ofAnimals : an open access journal from MDPI · 2021Article
- Genetically Modified Rabbits for Cardiovascular Research.Frontiers in genetics · 2021Review
- Genome engineering technologies in rabbits.Journal of biomedical research · 2020Article
- Nonhuman Primate Model of Oculocutaneous Albinism withResearch (Washington, D.C.) · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundOculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by reduced melanin that are caused by mutations in the gene encoding tyrosinase (TYR), which is the rate-limiting enzyme in the production of the pigment melanin. Many studies or meta-analyses have suggested an association between the TYR T373K SNP and OCA1, but there is limited biochemical and genetic evidence to support this association.
methodsWe overexpressed TYR-WT and TYR-T373K mutants on HK293T cells and tested the changes of melanin production and tyrosinase activity. Then we generated TYR-K373T knock-in (KI) rabbits by microinjection of ssDNA and synthesized RNAs targeting C1118A using CRISPR/Cas9-HDR to observe the formation of melanin.
findingsWe demonstrated that the T373K mutation in TYR can reduce tyrosinase activity, leading to an absence of melanin synthesis at the cell-level. The gene-edited TYR-K373T rabbits exhibited rescued melanin production in hair follicles and irises, as inferred from the evident decrease in pigmentation in TYR-T373K rabbits, thus providing functional validation of the albinism-associated T373K SNP at the animal level.
interpretationOur study provides the first animal-level functional validation of the albinism-associated TYR K373T SNP in rabbits, and these results will facilitate gene therapy of OCA1 in pre-clinical settings in the future. FUND: The National Key Research and Development Program of China Stem Cell and Translational Research, the Strategic Priority Research Program of the Chinese Academy of Sciences, the Guangdong Province Science and Technology Plan Project, and the Program for JLU Science and Technology Innovative Research Team.
Indexed as
Identifiers
What OpenQuestion holds
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.