cothec / brat4ref

The mapping of a cDNA from the human X-linked Duchenne muscular dystrophy gene to the mouse X chromosome.
The recent discovery of sequences at the site of the Duchenne muscular dystrophy ( DMD ) gene in humans has opened up the possibility of a detailed molecular analysis of the genes in humans and in related mammalian species . Until relatively recently , there was no obvious mouse model of this genetic disease for the development of therapeutic strategies . The identification of a mouse X-linked mutant showing muscular dystrophy , mdx , has provided a candidate mouse genetic homologue to the DMD locus ; the relatively mild pathological features of mdx suggest it may have more in common with mutations of the Becker muscular dystrophy type at the same human locus , however . But the close genetic linkage of mdx to G6PD and Hprt on the mouse X chromosome , coupled with its comparatively mild pathology , have suggested that the mdx mutation may instead correspond to Emery Dreifuss muscular dystrophy which itself is closely linked to DNA markers at Xq28-qter in the region of G6PD on the human X chromosome . Using an interspecific mouse domesticus / spretus cross , segregating for a variety of markers on the mouse X chromosome , we have positioned on the mouse X chromosome sequences homologous to a DMD cDNA clone . These sequences map provocatively close to the mdx mutation and unexpectedly distant from sparse fur , spf , the mouse homologue of OTC ( ornithine transcarbamylase ) which is closely linked to DMD on the human X chromosome . .