Sialin, an anion transporter defective in sialic acid storage diseases, shows highly variable expression in adult mouse brain, and is developmentally regulated.
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.
Yarovaya
Natalia
N
Murdoch Children's Research Institute, Melbourne, Victoria 3052, Australia.
Schot
Rachel
R
Fodero
Lisa
L
McMahon
Michelle
M
Mahoney
Alexis
A
Williams
Rachael
R
Verbeek
Elly
E
de Bondt
An
A
Hampson
Mark
M
van der Spek
Peter
P
Stubbs
Andrew
A
Masters
Colin L
CL
Verheijen
Frans W
FW
Mancini
Grazia M S
GM
Venter
Deon J
DJ
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*
D027361:Organic Anion Transporters; D027981:Symporters; C421224:sialic acid transport proteins