Effects of carbonic anhydrase VIII deficiency on cerebellar gene expression profiles in the wdl mouse.
Recently, the waddles (wdl) mouse was identified as a carbonic anhydrase VIII (Car8) mutant. The mutation is associated with marked deficiency of Car8, an inositol triphosphate receptor 1-binding protein expressed at high levels in cerebellar Purkinje cells. To help unravel the molecular aberrations contributing to motor dysfunction in wdl mice, cerebellar gene expression profiles were examined in the mutants and their wild-type littermates. Genes involved in signaling, cell division, zinc ion-binding, synapse integrity and plasticity were downregulated in wdl mice. Several of the upregulated genes encode proteins that function in the Golgi apparatus which suggests that Car8 deficiency has important effects on synaptic vesicle formation and transport.
Yan
Jian
J
Department of Medicine, University of Tennessee Health Science Center, Memphis, Tennessee 38163, United States.
Jiao
Yan
Y
Jiao
Feng
F
Stuart
John
J
Donahue
Leah Rae
LR
Beamer
Wesley G
WG
Li
Xinmin
X
Roe
Bruce A
BA
LeDoux
Mark S
MS
Gu
Weikuan
W
D000818:Animals; D024403:Carbonic Anhydrase III / Q000172:deficiency*; D002531:Cerebellum / Q000378:metabolism*; D020869:Gene Expression Profiling; D005786:Gene Expression Regulation / Q000502:physiology*; D051379:Mice; D008818:Mice, Neurologic Mutants / Q000378:metabolism; D012333:RNA, Messenger / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods
D012333:RNA, Messenger; D024403:Carbonic Anhydrase III