title: Differential Brain, Cognitive and Motor Profiles Associated with Partial Trisomy. Modeling Down Syndrome in Mice.
abstract: We hypothesize that the trisomy 21 (Down syndrome) is the additive and interactive outcome of the triple copy of different regions of HSA21. Because of the small number of patients with partial trisomy 21, we addressed the question in the Mouse in which three chromosomal regions located on MMU10, MMU17 and MMU16 carries almost all the HSA21 homologs. Male mice from four segmental trisomic strains covering the D21S17-ETS2 (syntenic to MMU16) were examined with an exhaustive battery of cognitive tests, motor tasks and MRI and compared with TS65Dn that encompasses D21S17-ETS2. None of the four strains gather all the impairments (measured by the effect size) of TS65Dn strain. The 152F7 strain was close to TS65Dn for motor behavior and reference memory and the three other strains 230E8, 141G6 and 285E6 for working memory. Episodic memory was impaired only in strain 285E6. The hippocampus and cerebellum reduced sizes that were seen in all the strains indicate that trisomy 21 is not only a hippocampus syndrome but that it results from abnormal interactions between the two structures.
authors.affiliation: Aix Marseille University, INSERM, UMR_S 910, GMGF, TIMONE - 27 Boulevard Jean Moulin, 13005, Marseille, France. Pierre.ROUBERTOUX@univ-amu.fr.
authors.forename: Pierre L
authors.initials: PL
authors.lastname: Roubertoux
authors.affiliation: Department 3C, Aix Marseille University, CNRS, Marseille, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Baril
authors.affiliation: Aix Marseille University, INSERM, UMR_S 910, GMGF, TIMONE - 27 Boulevard Jean Moulin, 13005, Marseille, France.|Department of Medical Genetics, AP-HM, Timone Hospital, Marseille, France.|Service de Biologie Cellulaire, AP-HM, Hôpital La Timone, 13385, Marseille Cedex 5, France.
authors.forename: Pierre
authors.initials: P
authors.lastname: Cau
authors.affiliation: Aix Marseille University, INSERM, UMR_S 910, GMGF, TIMONE - 27 Boulevard Jean Moulin, 13005, Marseille, France.
authors.forename: Christophe
authors.initials: C
authors.lastname: Scajola
authors.affiliation: Aix Marseille University, INSERM, UMR_S 910, GMGF, TIMONE - 27 Boulevard Jean Moulin, 13005, Marseille, France.
authors.forename: Adeline
authors.initials: A
authors.lastname: Ghata
authors.affiliation: Aix Marseille University, INSERM, UMR_S 910, GMGF, TIMONE - 27 Boulevard Jean Moulin, 13005, Marseille, France.
authors.forename: Catherine
authors.initials: C
authors.lastname: Bartoli
authors.affiliation: Aix Marseille University, INSERM, UMR_S 910, GMGF, TIMONE - 27 Boulevard Jean Moulin, 13005, Marseille, France.|Department of Medical Genetics, AP-HM, Timone Hospital, Marseille, France.
authors.forename: Patrice
authors.initials: P
authors.lastname: Bourgeois
authors.affiliation: Aix Marseille University, CNRS, EFS, ADES, Marseille, France.
authors.forename: Julie di
authors.initials: JD
authors.lastname: Christofaro
authors.affiliation: Paris Descartes University, CNRS, LPP, Paris, France.|Rennes 1 University, PHUPEA, Rennes, France.
authors.forename: Sylvie
authors.initials: S
authors.lastname: Tordjman
authors.affiliation: Aix Marseille University, CNRS, LPC, Marseille, France.
authors.forename: Michèle
authors.initials: M
authors.lastname: Carlier
mesh_terms: D000818:Animals; D002531:Cerebellum / Q000473:pathology*; D003071:Cognition; D004314:Down Syndrome / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006624:Hippocampus / Q000473:pathology*; D006801:Humans; D018782:Maze Learning; D051379:Mice; D008810:Mice, Inbred C57BL; D008817:Mice, Mutant Strains; D009043:Motor Activity / Q000235:genetics
keywords: Cognition; D21S17-ETS2 region; Effect size; MRI; Protein–protein interactions; Trisomy 21