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Letters to Nature

Nature 323, 646-650 (16 October 1986) | doi:10.1038/323646a0; Accepted 19 August 1986

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene

Anthony P. Monaco*, †, Rachael L. Neve*, †, Chris Colletti-Feener*, Corlee J. Bertelson*, David M. Kurnit* & Louis M. Kunkel*, †, ‡

  1. *Division of Genetics, Mental Retardation Program, Department of Pediatrics, Harvard Medical School, The Children's Hospital, Boston, Massachusetts 02115, USA
  2. †The Program in Neuroscience, Harvard University, Cambridge, Massachusetts 02138, USA
  3. ‡To whom correspondence should be addressed.
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Duchenne muscular dystrophy (DMD) and the less severe Becker muscular dystrophy (BMD) are human X-linked muscle-wasting disorders that have been localized to the band Xp21 by genetic linkage analysis1–9 and cytologically detectable abnormalities10–12. A cloned DNA segment, DXS164 (or pERT87), has been shown to detect deletions in the DNA of unrelated DMD and BMD males13–15. Here we present the nucleotide sequence of two highly conserved DNA fragments from the DXS164 locus and their homologous sequences from the mouse X chromosome. One of the human conserved segments hybridized to a large transcript in RNA isolated from human fetal skeletal muscle and was used to isolate cDNA clones which cover approximately 10% of this transcript. The cDNA clones map to Xp21 and hybridize with a minimum of eight small regions that span 130 kilobases (kb) of the DXS164 locus. These expressed sequences are candidates for portions of the gene responsible for both DMD and BMD.