Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1

Davide Gabellini, Giuseppe D'Antona, Maurizio Moggio, Alessandro Prelle, Chiara Zecca, Raffaella Adami, Barbara Angeletti, Patrizia Ciscato, Maria Antonietta Pellegrino, Roberto Bottinelli, Michael R. Green and Rossella Tupler ()
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Davide Gabellini: University of Massachusetts Medical School
Giuseppe D'Antona: Università degli Studi di Pavia
Maurizio Moggio: Università degli Studi di Milano, I.R.C.C.S. Fondazione Ospedale Maggiore
Alessandro Prelle: Università degli Studi di Milano, I.R.C.C.S. Fondazione Ospedale Maggiore
Chiara Zecca: Università degli Studi di Milano, I.R.C.C.S. Fondazione Ospedale Maggiore
Raffaella Adami: Università degli Studi di Pavia
Barbara Angeletti: Università degli Studi di Pavia
Patrizia Ciscato: Università degli Studi di Milano, I.R.C.C.S. Fondazione Ospedale Maggiore
Maria Antonietta Pellegrino: Università degli Studi di Pavia
Roberto Bottinelli: Università degli Studi di Pavia
Michael R. Green: University of Massachusetts Medical School
Rossella Tupler: University of Massachusetts Medical School

Nature, 2006, vol. 439, issue 7079, 973-977

Abstract: Muscular dystrophy model Facioscapulohumeral muscular dystrophy is a human muscle disorder linked to deletions of a repeat unit on chromosome 4. An experiment in which transgenic mice were engineered to overexpress three skeletal muscle genes linked to this deletion shows that overexpression of one of them, FRG1, causes the signs of muscular dystrophy. Too much FRG1 leads to abnormal splicing of pre-mRNAs in skeletal muscle. Future studies will explore how this leads to abnormal spine curvature and other symptoms. And the availability of a mouse model for this type of muscular dystrophy will be of value in evaluating therapeutic strategies.

Date: 2006
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DOI: 10.1038/nature04422

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