MOUSE MYODYSTROPHY (MYD) MUTATION - REFINED MAPPING IN AN INTERVAL FLANKED BY HOMOLOGY WITH DISTAL HUMAN 4Q

Myodystrophy (myd) is an autosomal-recessive mouse mutation with dystr ophic skeletal muscle. We propose that myd may be a model of the human disorder facioscapulohumeral dystrophy (FSHD) on the basis of clinica l features and homologous genetic map locations. FSHD maps to human 4q 35, while myd maps to mouse chromosome 8, To explore the relationship between FSHD and myd, it is necessary to define the homologous regions of human chromosome 4 and mouse chromosome 8, and ultimately, identif y the genes underlying both disorders. A kallikrein gene (Kal3) was pr eviously mapped by in situ hybridization to mouse chromosome 8 and hum an 4q35. We report the genetic map location of Kal3, bringing to 4 the number of genes with homologues on human 4q31-35 placed on the geneti c map of mouse chromosome 8. As a first step in gene isolation, we hav e narrowed the interval containing myd by typing 125 affected mice wit h microsatellite markers. Analysis of recombinants placed myd in an in terval that is flanked by genes with homologues in human 4q. (C) 1995 John Wiley and Sons, Inc.