HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

The mouse homolog of FRG1, a candidate gene for FSHD, maps proximal to the myodystrophy mutation on chromosome 8.

Abstract
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 (FSHD Region Gene 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.
AuthorsP K Grewal, J C van Deutekom, K A Mills, R J Lemmers, K D Mathews, R R Frants, J E Hewitt
JournalMammalian genome : official journal of the International Mammalian Genome Society (Mamm Genome) Vol. 8 Issue 6 Pg. 394-8 (Jun 1997) ISSN: 0938-8990 [Print] United States
PMID9166581 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
Chemical References
  • FRG1 protein, human
  • Frg1 protein, mouse
  • Microfilament Proteins
  • Nuclear Proteins
  • Proteins
  • RNA-Binding Proteins
Topics
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Blotting, Northern
  • Chromosome Mapping
  • Chromosomes
  • Cloning, Molecular
  • Cricetinae
  • Crosses, Genetic
  • Face
  • Humans
  • Mice
  • Mice, Inbred C57BL
  • Microfilament Proteins
  • Molecular Sequence Data
  • Muscular Dystrophies (genetics)
  • Muscular Dystrophy, Animal (genetics)
  • Mutation
  • Nuclear Proteins
  • Proteins (genetics)
  • RNA-Binding Proteins
  • Sequence Homology, Amino Acid
  • Tissue Distribution

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: