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Molecular Biology Commons

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Developmental Biology

University of Massachusetts Medical School

Peter Jones Lab Publications

2016

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Full-Text Articles in Molecular Biology

Transgenic Drosophila For Investigating Dux4 And Frg1, Two Genes Associated With Facioscapulohumeral Muscular Dystrophy (Fshd), Takako I. Jones, Megan Parilla, Peter L. Jones Mar 2016

Transgenic Drosophila For Investigating Dux4 And Frg1, Two Genes Associated With Facioscapulohumeral Muscular Dystrophy (Fshd), Takako I. Jones, Megan Parilla, Peter L. Jones

Peter Jones Lab Publications

Facioscapulohumeral muscular dystrophy (FSHD) is typically an adult onset dominant myopathy. Epigenetic changes in the chromosome 4q35 region linked to both forms of FSHD lead to a relaxation of repression and increased somatic expression of DUX4-fl (DUX4-full length), the pathogenic alternative splicing isoform of the DUX4 gene. DUX4-fl encodes a transcription factor expressed in healthy testis and pluripotent stem cells; however, in FSHD, increased levels of DUX4-fl in myogenic cells lead to aberrant regulation of target genes. DUX4-fl has proven difficult to study in vivo; thus, little is known about its normal and pathogenic roles. The endogenous expression of DUX4-fl ...