Title

Muscular dystrophy candidate gene FRG1 is critical for muscle development

UMMS Affiliation

Department of Cell and Developmental Biology

Date

6-1-2009

Document Type

Article

Medical Subject Headings

Animals; *Gene Expression Regulation, Developmental; Humans; In Situ Hybridization; Muscle Development; Muscle, Skeletal; development; Muscular Dystrophy, Facioscapulohumeral; MyoD Protein; Nuclear Proteins; Oligonucleotides, Antisense; Paired Box Transcription Factors; Xenopus Proteins; *Xenopus laevis

Disciplines

Cell Biology | Developmental Biology | Molecular Biology | Molecular Genetics | Musculoskeletal Diseases | Nervous System Diseases

Abstract

The leading candidate gene responsible for facioscapulohumeral muscular dystrophy (FSHD) is FRG1 (FSHD region gene 1). However, the correlation of altered FRG1 expression levels with disease pathology has remained controversial and the precise function of FRG1 is unknown. Here, we carried out a detailed analysis of the normal expression patterns and effects of FRG1 misexpression during vertebrate embryonic development using Xenopus laevis. We show that frg1 is expressed in and essential for the development of the tadpole musculature. FRG1 morpholino injection disrupted myotome organization and led to inhibited myotome growth, while elevated FRG1 led to abnormal epaxial and hypaxial muscle formation. Thus, maintenance of normal FRG1 levels is critical for proper muscle development, supportive of FSHD disease models whereby misregulation of FRG1 plays a causal role underlying the pathology exhibited in FSHD patients. Developmental Dynamics 238:1502-1512, 2009. (c) 2008 Wiley-Liss, Inc.

Rights and Permissions

Citation: Dev Dyn. 2009 Jun;238(6):1502-12. doi: 10.1002/dvdy.21830. Link to article on publisher's site

Comments

At the time of publication, Peter Jones was not yet affiliated with the University of Massachusetts Medical School

Related Resources

Link to Article in PubMed

Keywords

Frg1, facioscapulohumeral muscular dystrophy, FSHD, Xenopus, muscle

PubMed ID

19097195