title: Neurological Deficits of an Rps19(Arg67del) Model of Diamond-Blackfan Anaemia.
abstract: Diamond-Blackfan anaemia is a rare disease caused by insufficient expression of ribosomal proteins and is characterized by erythroid hypoplasia often accompanied by growth retardation, congenital craniofacial and limb abnormalities. In addition, Diamond-Blackfan anaemia patients also exhibit a number of behavioural abnormalities. In this study we describe the behavioural effects observed in a new mouse mutant carrying a targeted single amino acid deletion in the ribosomal protein RPS19. This mutant, created by the deletion of arginine 67 in RPS19, exhibits craniofacial, skeletal, and brain abnormalities, accompanied by various neurobehavioural malfunctions. A battery of behavioural tests revealed a moderate cognitive impairment and neuromuscular dysfunction resulting in profound gait abnormalities. This novel Rps19 mutant shows behavioural phenotypes resembling that of the human Diamond-Blackfan anaemia syndrome, thus creating the possibility to use this mutant as a unique murine model for studying the molecular basis of ribosomal protein deficiencies.
authors.affiliation: Laboratory of Transgenic Models of Diseases, Division BIOCEV, Institute of Molecular Genetics of the ASCR, v. v. i., Prague, Czech Republic.
authors.forename: A
authors.initials: A
authors.lastname: Kubik-Zahorodna
authors.affiliation: Laboratory of Transgenic Models of Diseases, Division BIOCEV, Institute of Molecular Genetics of the ASCR, v. v. i., Prague, Czech Republic.
authors.forename: B
authors.initials: B
authors.lastname: Schuster
authors.affiliation: Laboratory of Transgenic Models of Diseases, Division BIOCEV, Institute of Molecular Genetics of the ASCR, v. v. i., Prague, Czech Republic.
authors.forename: I
authors.initials: I
authors.lastname: Kanchev
authors.affiliation: Laboratory of Transgenic Models of Diseases, Division BIOCEV, Institute of Molecular Genetics of the ASCR, v. v. i., Prague, Czech Republic.
authors.forename: R
authors.initials: R
authors.lastname: Sedláček
mesh_terms: D029503:Anemia, Diamond-Blackfan / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D000818:Animals; D003213:Conditioning, Psychological; D004195:Disease Models, Animal; D005239:Fear; D005684:Gait / Q000502:physiology; D006849:Hydrocephalus / Q000473:pathology; D008568:Memory; D008810:Mice, Inbred C57BL; D008817:Mice, Mutant Strains; D009068:Movement; D009154:Mutation / Q000235:genetics; D009420:Nervous System / Q000473:pathology* / Q000503:physiopathology; D009469:Neuromuscular Junction / Q000473:pathology / Q000503:physiopathology; D012269:Ribosomal Proteins / Q000235:genetics*; D045442:Rotarod Performance Test
chemical_list: D012269:Ribosomal Proteins; C040343:ribosomal protein S19