Génétique - Publications Scientifiques

Dernière publication 01/09/2015

Major impact of the App-Runx1 region in a mouse model of partial monosomy 21

Partial monosomy 21 (PM21) is a rare chromosomal abnormality that is characterized by the loss of a variable segment along human chromosome 21...

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    [title] => Major impact of the App-Runx1 region in a mouse model of partial monosomy 21
    [paragraph] => Major impact of the App-Runx1 region in a mouse model of partial monosomy 21
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Authors
Thomas Arbogast, Matthieu Raveau, Claire Chevalier, Valérie Nalesso, Doulaye Dembele, Hugues Jacobs, Olivia Wendling, Michel Roux, Arnaud Duchon, Yann Herault

 Lab
Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France
Journal
Disease Models and Mechanisms 
Abstract
Partial monosomy 21 (PM21) is a rare chromosomal abnormality that is characterized by the loss of a variable segment along human chromosome 21 (Hsa21). Its clinical phenotypes are heterogeneous and range from mild alterations to lethal consequences, depending on the affected region of the Hsa21. The most common features include intellectual disabilities, craniofacial dysmorphology, short stature, and muscular and cardiac defects. As a complement to human genetic approaches, our team has developed new monosomic mouse models that carry deletions on Hsa21 syntenic regions to identify the dosage-sensitive genes responsible for the symptoms. We focused here on the Ms5Yah mouse model, in which a 7.7 Mb region was deleted from the App to Runx1 genes. Ms5Yah mice displayed high postnatal lethality, with a few surviving individuals showing growth retardation, motor coordination deficits and spatial learning and memory impairments. Further studies confirmed a gene dosage effect in the Ms5Yah hippocampus and pinpoint disruptions of pathways related to cell adhesion (App, Cntnap5b, Lgals3bp, Mag, Mcam, Npnt, Pcdhb2/3/4/6/7/8/16 and Vwf). Our PM21 mouse model is the first to display morphological abnormalities and behavioural phenotypes similar to those found in patients, and it therefore demonstrates the major contribution of the App-Runx1 region to the pathophysiology of PM21.
BIOSEB Instruments Used
Grip strength test (BIO-GS3)
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Une méthode simple pour quantifier objectivement la force musculaire des rats et souris et l'effet de drogues, toxines, maladies musculaires (ex: myopathie) et neurodégénératives. Cette mesure de force est souvent employée en association avec le test de coordination motrice ROTAROD: un sujet présentant une coordination normale montrera des résultats médiocres en cas de faible force musculaire. Un must pour vos recherches sur l'activité, la coordination et le contrôle musculaire: particulièrement utile pour vos études sur les maladies de Parkinson et Huntington.
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