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- W52612105 abstract "The mouse mutant myd is a candidate model for FSHD on the basis of phenotypic description and the linkage homology we have established between distal human chromosome 4q and the midregion of mouse chromosome 8. The human disease is associated with a deletion in a subtelomeric repeat element at 4q35, but isolation of genes from this region has been difficult to date. The myd gene will be an excellent candidate gene for the human disease. Refined genetic localization of the mutant is a first step in the positional cloning of the gene for myd. We have mapped myd in 128 affected mice (65 confirmed with muscle histology) from an intersubspecific backcross of B6C3Fe-a/a-myd/+ X Mus musculus castaneus (CAST/Ei). Previous work with 38 animals found two recombinants that placed the gene in the 3-6 cM interval between D8Mit30 and D8Mit75, with complete linkage to D8Mit74. New markers and an enlarged panel of affected animals now indicate 2 recombinants with D8Mit74 and complete linkage to D8Mit101. Our results suggest the order of genes and Mit markers is (F11/Kal-3/Clcn-3) - 30 - 101 - 74 - 75 - Ucp. The interval of interest, between D8Mit30 and D8Mit74, is about 1 cM by themore » current mouse SSLP map generated at MIT. We are currently screening mouse YAC libraries for clones covering this region. There may be a position effect on the FSHD gene by the subtelomeric deletion in its vicinity. If a structurally normal gene is being so affected, it will be difficult to show that is is the FSHD gene. The mouse gene is likely to be affected by a different type of mutation, and could facilitate analysis of candidate human genes.« less" @default.
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- W52612105 date "1994-09-01" @default.
- W52612105 modified "2023-09-23" @default.
- W52612105 title "Refined localization of myd, a candidate animal model for facioscapulohumeral dystrophy (FSHD)" @default.
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