Study of Undiagnosed Diseases Genes in Zebrafish

斑马鱼未确诊疾病基因的研究

• 批准号: 8668393
• 负责人: Shuo Lin
• 金额: $ 23.1万
• 依托单位: UNIVERSITY OF CALIFORNIA LOS ANGELES
• 依托单位国家: 美国
• 财政年份: 2014
• 资助国家: 美国
• 起止时间: 2014-09-15 至 2016-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8668393
• 关键词: Address; Administrative Supplement; Adult; Animal Model; Biochemistry; Candidate Disease Gene; Classification; Communities; Consultations; DNA Double Strand Break; Diagnosis; Disease; Dose; Embryo; Fertilization in Vitro; Fishes; Freezing; Functional disorder; Gene Targeting; Genes; Genetic; Genome; Genomics; Genotype; Grant; Healthcare; Hereditary Disease; Human; Knock-in Mouse; Knock-out; Laboratory Research; Libraries; Mediating; Methods; Modeling; Mutagenesis; Mutate; Mutation; Nature; Newly Diagnosed Disease; Pathogenesis; Patients; Phenotype; Point Mutation; Production; Rare Diseases; Research; Resources; Retroviridae; Running; Sampling; Scientist; Techniques; Technology; United States National Institutes of Health; Variant; Vertebrates; Viral; Zebrafish; base; design; disease phenotype; gene function; genome-wide; homologous recombination; human disease; improved; loss of function; mutant; novel; programs; public health relevance; sperm cell; zebrafish genome

DESCRIPTION (provided by applicant): We have recently demonstrated that gene targeting via homologous recombination in zebrafish is feasible (Zuatal, Nature Methods, 2013). Homologous recombination in zebrafish with a dsDNA donor makes it possible to knock-in variants of human genes of rare and undiagnosed diseases into zebrafish genome. We have selected four such genes that are conserved between zebrafish and human for genomic knock-in studies. These zebrafish models should facilitate the understanding of genetics, biochemistry and pathophysiology of these newly diagnosed disease genes.

描述（由申请人提供）：我们最近已经证明，在斑马鱼中通过同源重组进行基因靶向是可行的（Zuatal，Nature Methods，2013）。斑马鱼与dsDNA供体的同源重组使得将人类罕见和未诊断疾病的基因变体敲入斑马鱼基因组成为可能。我们已经选择了四个这样的基因，斑马鱼和人类之间的保守基因的基因组敲入研究。这些斑马鱼模型应该有助于理解这些新诊断的疾病基因的遗传学，生物化学和病理生理学。