| 2 | Atm deficient zebrafish model reveals conservation of the tumour suppressor function and a role in fertility显示文摘Biallelic loss-of-function variants in ATM (Ataxia Telangiectasia Mutated) cause Ataxia Telangiectasia (AT), a rare disorder associated with cerebellar degeneration and ataxia, cancer predisposition, infertility, growth retardation, etc. ATM is a phosphoinositide 3-kinase-related kinase (PIKK) with a role in DNA repair and maintenance of genome stability. Studying a multisystem genetic disease like AT requires animal models to ascertain its pathogenesis at the level of tissues, organs and the organism. Due to its small size, cheap maintenance, large progeny, rapid development and initial transparency, zebrafish (Danio rerio) is an increasingly popular vertebrate model organism, suitable for genetic modifications and large-scale in vivo therapeutic screens as embryos are chemically permeable to small compounds. Currently, no zebrafish model for AT exists.1 We generated atm knock-outs through CRIPSR-Cas9 mutagenesis. We show that atm conserved its function as a tumour suppressor gene and is involved in gametogenesis and fertility. Therefore, this mutant is of great value for further studies investigating the role of atm in reproduction and tumorigenesis. | Jeroen Vierstraete Charlotte Fieuws David Creytens Jo Van Dorpe Andy Willaert Anne Vral Kathleen BM Claes | 2023 | Genes & Diseases2023，10，2： | 0 |
您所在的机构暂未开通此部分的功能，请联系管理员