The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein
Facioscapulohumeral muscular dystrophy (FSHD) patients carry contractions of the D4Z4-
tandem repeat array on chromosome 4q35. Decrease in D4Z4 copy number is thought to
alter a chromatin structure and activate expression of neighboring genes. D4Z4 contains a
putative double-homeobox gene called DUX4. We identified DUX4 mRNAs in cells
transfected with genomic fragments containing the DUX4 gene. Using RT-PCR we also
recognized expressed DUX4 mRNAs in primary FSHD myoblasts. Polyclonal antibodies …
tandem repeat array on chromosome 4q35. Decrease in D4Z4 copy number is thought to
alter a chromatin structure and activate expression of neighboring genes. D4Z4 contains a
putative double-homeobox gene called DUX4. We identified DUX4 mRNAs in cells
transfected with genomic fragments containing the DUX4 gene. Using RT-PCR we also
recognized expressed DUX4 mRNAs in primary FSHD myoblasts. Polyclonal antibodies …