title: The zebrafish homologue of Parkinson's disease ATP13A2 is essential for embryonic survival.
abstract: ATP13A2 is a lysosome-specific transmembrane ATPase protein of unknown function. This protein was initially linked to Kufor-Rakeb syndrome where it is absent or mutated. More recently, point mutations in ATP13A2 were linked to familial cases of Parkinson's disease. Zebrafish is commonly used as a vertebrate model for the study of different neurodegenerative diseases and has homologues of several Parkinson's disease associated proteins. Here, we describe for the first time the zebrafish homologue of human ATP13A2, demonstrating the homology between the protein sequences, which supports a conserved biological role. Furthermore, the spatial pattern of protein expression was studied and the lethality of the knockdown of ATP13A2 suggests it plays a crucial role during embryonic development. Our findings bring new insight into the biology of ATP13A2 and open novel opportunities for its study using zebrafish as a model organism.
authors.affiliation: Cell and Molecular Neuroscience Unit, Instituto de Medicina Molecular, Lisboa, Portugal.
authors.forename: Tomás
authors.initials: T
authors.lastname: Lopes da Fonseca
authors.forename: Ana
authors.initials: A
authors.lastname: Correia
authors.forename: Wiebren
authors.initials: W
authors.lastname: Hasselaar
authors.forename: Herma C
authors.initials: HC
authors.lastname: van der Linde
authors.forename: Rob
authors.initials: R
authors.lastname: Willemsen
authors.forename: Tiago Fleming
authors.initials: TF
authors.lastname: Outeiro
mesh_terms: D000818:Animals; D019295:Computational Biology; D004625:Embryo, Nonmammalian; D047108:Embryonic Development / Q000187:drug effects / Q000235:genetics*; D006801:Humans; D008124:Locomotion / Q000187:drug effects / Q000235:genetics; D060172:Morpholinos / Q000494:pharmacology; D009154:Mutation / Q000235:genetics; D006180:Proton-Translocating ATPases / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D017385:Sequence Homology; D015027:Zebrafish / Q000196:embryology* / Q000378:metabolism*; D029961:Zebrafish Proteins / Q000235:genetics* / Q000378:metabolism
chemical_list: C514983:ATP13A2 protein, human; D060172:Morpholinos; D029961:Zebrafish Proteins; D006180:Proton-Translocating ATPases