title: Sialin, an anion transporter defective in sialic acid storage diseases, shows highly variable expression in adult mouse brain, and is developmentally regulated.
abstract: Sialin is a lysosomal membrane protein encoded by the SLC17A5 gene, which is mutated in patients with sialic acid storage diseases (SASD). To further understand the role of sialin in normal CNS development and in the progressive neuronal atrophy and dysmyelination seen in SASD, we investigated its normal cellular distribution in adult and developing mice. Overall, sialin showed granular immunoreactivity, consistent with a vesicular protein. Adult mice showed widespread sialin expression, including in the brain, heart, lung, and liver. High-level immunoreactivity was seen in the neuropil of the hippocampus, striatum, and cerebral cortex, as well as in the perikarya of cerebellar Purkinje cells, globus pallidus, and certain thalamic and brainstem nuclei. In mouse embryos, the highest levels of expression were observed in the nervous system. We discuss the possible role of sialin in normal development and in SASD pathogenesis, as a framework for further investigation of its function in these contexts.
authors: Murdoch Children's Research Institute, Melbourne, Victoria 3052, Australia.
authors: Natalia
authors: N
authors: Yarovaya
authors: Rachel
authors: R
authors: Schot
authors: Lisa
authors: L
authors: Fodero
authors: Michelle
authors: M
authors: McMahon
authors: Alexis
authors: A
authors: Mahoney
authors: Rachael
authors: R
authors: Williams
authors: Elly
authors: E
authors: Verbeek
authors: An
authors: A
authors: de Bondt
authors: Mark
authors: M
authors: Hampson
authors: Peter
authors: P
authors: van der Spek
authors: Andrew
authors: A
authors: Stubbs
authors: Colin L
authors: CL
authors: Masters
authors: Frans W
authors: FW
authors: Verheijen
authors: Grazia M S
authors: GM
authors: Mancini
authors: Deon J
authors: DJ
authors: Venter
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D015153:Blotting, Western; D001921:Brain / Q000196:embryology* / Q000378:metabolism*; D004622:Embryo, Mammalian; D017615:Enteric Nervous System / Q000196:embryology / Q000378:metabolism; D005260:Female; D015870:Gene Expression; D006321:Heart / Q000196:embryology; D007091:Image Processing, Computer-Assisted; D007150:Immunohistochemistry; D008099:Liver / Q000196:embryology / Q000378:metabolism; D008168:Lung / Q000196:embryology / Q000378:metabolism; D051379:Mice; D008969:Molecular Sequence Data; D027361:Organic Anion Transporters / Q000096:biosynthesis*; D017933:Peripheral Nervous System / Q000196:embryology / Q000378:metabolism; D017386:Sequence Homology, Amino Acid; D029461:Sialic Acid Storage Disease / Q000503:physiopathology; D013116:Spinal Cord / Q000196:embryology / Q000378:metabolism; D027981:Symporters / Q000096:biosynthesis*
chemical_list: D027361:Organic Anion Transporters; D027981:Symporters; C421224:sialic acid transport proteins