FSHD Region Gene 1 (FRG1)

The FRG1 gene detected a transcript of 1.1 kb on Northern blot analysis of adult muscle and lymphocytes and of fetal brain, muscle, and placenta. DNA sequence analysis did not reveal any homology to known genes. The FRG1 gene was found to be evolutionarily conserved and to have related sequences on multiple human chromosomes. FRG1 is a nuclear protein and several lines of evidence suggest it is involved in pre-mRNA splicing.

Van Deutekom et al. (1996) identified a polymorphism in exon 1 of this gene and used RT-PCR to amplify reverse transcribed mRNA from lymphocytes and muscle biopsies of patients and controls. These studies indicated that both alleles were transcribed and gave no evidence of position effect variegation leading to repression of allelic transcription.