Journal article
The mouse homolog of FRG1, a candidate gene for FSHD, maps proximal to the myodystrophy mutation on chromosome 8
Mammalian genome, Vol.8(6), pp.394-398
06/1997
DOI: 10.1007/s003359900454
PMID: 9166581
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 (
$$\underset{\raise0.3em\hbox{$\smash{\scriptscriptstyle-}$}}{F} $$
SHD
$$\underset{\raise0.3em\hbox{$\smash{\scriptscriptstyle-}$}}{R} $$
egion
$$\underset{\raise0.3em\hbox{$\smash{\scriptscriptstyle-}$}}{G} $$
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.
Details
- Title: Subtitle
- The mouse homolog of FRG1, a candidate gene for FSHD, maps proximal to the myodystrophy mutation on chromosome 8
- Creators
- Prabhjit Grewal - School of Biological Sciences The University of Manchester 3.239 Stopford Building, Oxford Road M13 9PT Manchester UKJudith van Deutekom - MGC-Department of Human Genetics, Sylvius Laboratory Leiden University Leiden The NetherlandsKate Mills - Department of Pediatrics University of Iowa Iowa City Iowa USARichard Lemmers - MGC-Department of Human Genetics, Sylvius Laboratory Leiden University Leiden The NetherlandsKathy Mathews - Department of Pediatrics University of Iowa Iowa City Iowa USARune Frants - MGC-Department of Human Genetics, Sylvius Laboratory Leiden University Leiden The NetherlandsJane Hewitt - School of Biological Sciences The University of Manchester 3.239 Stopford Building, Oxford Road M13 9PT Manchester UK
- Resource Type
- Journal article
- Publication Details
- Mammalian genome, Vol.8(6), pp.394-398
- Publisher
- Springer-Verlag; New York
- DOI
- 10.1007/s003359900454
- PMID
- 9166581
- ISSN
- 0938-8990
- eISSN
- 1432-1777
- Language
- English
- Date published
- 06/1997
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
- Record Identifier
- 9984020642302771
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