title: Loss of p53 in quaking viable mice leads to Purkinje cell defects and reduced survival.
abstract: The qk(v) mutation is a one megabase deletion resulting in abnormal expression of the qkI gene. qk(v) mice exhibit hypomyelination of the central nervous system and display rapid tremors and seizures as adults. The qkI locus on 6q26-27 has also been implicated as a candidate tumor suppressor gene as the qkI locus maps to a region of genetic instability in Glioblastoma Multiforme (GBM), an aggressive brain tumor of astrocytic lineage. As GBM frequently harbors mutations affecting p53, we crossbred qk(v) and p53 mutant mice to examine whether qk(v) mice on a p53(-/-) background have an increased incidence of GBM. qk(v) (/v); p53(-/-) mice had a reduced survival rate compared to p53(-/-) littermates, and the cause of death of the majority of the mice remains unknown. In addition, immunohistochemistry revealed Purkinje cell degeneration in the cerebellum. These results suggest that p53 and qkI are genetically linked for neuronal maintenance and survival.
authors.affiliation: Terry Fox Molecular Oncology Group and the Bloomfield Center for Research on Aging, Lady Davis Institute for Medical Research, Sir Mortimer B. Davis Jewish General Hospital, and Departments of Oncology and Medicine, McGill University , Montréal, Québec,  Canada, H3T 1E2.
authors.forename: Christina
authors.initials: C
authors.lastname: Gavino
authors.forename: Stéphane
authors.initials: S
authors.lastname: Richard
mesh_terms: D000818:Animals; D001483:Base Sequence; D001932:Brain Neoplasms / Q000473:pathology; D017931:DNA Primers; D042822:Genomic Instability; D005909:Glioblastoma / Q000473:pathology; D007150:Immunohistochemistry; D051379:Mice; D018345:Mice, Knockout; D008821:Mice, Quaking; D009154:Mutation; D016133:Polymerase Chain Reaction; D011689:Purkinje Cells / Q000473:pathology*; D016019:Survival Analysis; D016159:Tumor Suppressor Protein p53 / Q000235:genetics / Q000502:physiology*
chemical_list: D017931:DNA Primers; D016159:Tumor Suppressor Protein p53