Karen Usdin Research Images
Fragile X premutation mice show neurodegeneration similar to humans with Fragile X-associated tremor and ataxia syndrome:
FXTAS-like pathology in the CNS of Fragile X premutation mice. i) Ubiquitin staining in the thalamus. (Inset: a section from the reticular formation counterstained with Neutral Red). ii) Lamin-positive inclusions (arrows) and the irregular distribution of lamin in the cerebellum (Inset: cell from WT mice showing the normal lamin distribution) iii-v) Calbindin staining in the cerebellum showing swollen axons, abnormal calbindin distribution, and purkinje cell dropout.
SIRT1 is involved in FMR1 gene silencing in Fragile X mental retardation syndrome: Artistic representation of events occuring during the silencing of the FMR1 gene in Fragile X mental retardation syndrome (FXS). The FMR1 gene, which is on the X chromosome, colocalizes with a fragile site seen in FXS cells that gives this disorder its name. FXS alleles become associated with SIRT1. SIRT1, a class III histone deacetylase, deacetylates lysine 9 of histone H3 and lysine 16 of histone H4 ultimately leading to chromatin compaction and gene silencing. Image Credit: Featured image in PLoS Genetics, March, 2008. Dr. Marian L. Miller (Journal-Cover-Art.com)
Page last updated: December 17, 2008
