| First Author | Grewal PK | Year | 1997 |
| Journal | Mamm Genome | Volume | 8 |
| Issue | 6 | Pages | 394-8 |
| PubMed ID | 9166581 | Mgi Jnum | J:40667 |
| Mgi Id | MGI:708028 | Doi | 10.1007/s003359900454 |
| Citation | Grewal PK, et al. (1997) The mouse homolog of FRG1, a candidate gene for FSHD, maps proximal to the myodystrophy mutation on chromosome 8. Mamm Genome 8(6):394-8 |
| abstractText | The human autosomal dominant neuromuscular disorder facioscapulohumeral muscular dystrophy (FSHD) is associated with deletions within a complex tandem DNA repeat (D4Z4) on Chromosome (Chr) 4q35. The molecular mechanism underlying this association of FSHD with DNA rearrangements is unknown, and, thus far, no gene has been identified within the repeat. We isolated a gene mapping 100 kb proximal to D4Z4 ((F) under bar SHD (R) under bar egion (G) under bar ene 1:FRG1), but were unable to detect any alterations in total or allele-specific mRNA levels of FRG1 in FSHD patients. Human Chr 4q35 exhibits synteny homology with the region of mouse Chr 8 containing the gene for the myodystrophy mutation (myd), a possible mouse homolog of FSHD. We report the cloning of the mouse gene (Frg1) and show that it maps to mouse Chr 8. Using a cross segregating the myd mutation and the European Collaborative Interspecific Backcross, we showed that Frg1 maps proximal to the myd locus and to the Clc3 and Ant1 genes. |
