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© 1995 Oxford University Press

OTHER

A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat

C.A. Boucher{dagger}, S.K. King, N. Carey§, R. Krahe1, C.L. Winchester{dagger}, S. Rahman, T. Creavin, P. Mehji, M.E.S. Bailey{dagger}, F.L. Chartier2, S.D. Brown2, M.J. Siciliano1 and K.J. Johnson*,{dagger}

Genetics Unit, Department of Anatomy, Charing Cross and Westn-nnster Medical School Fulham Palace Road, London W6 8RF, UK 1Department of Molecular Genetics, University of Texas MD Anderson Cancer Center, 1515 Holcombe, Houston, TX 77030, USA 2Department of Biochemistry and Molecular Genetics, St Mary's Hospital Medical School Norfolk Place, London W2 1PG, UK

*To whom correspondence should be addressed

Received June 5, 1995; Revised July 5, 1995; Accepted July 5, 1995

Myotonic dystrophy (DM) is associated with a (CTG)n trinucleotide repeat expansion in the 3'-untranslated region of a protein kinase-encoding gene, DMPK, which maps to chromosome 19q13.3. Characterisation of the expression of this gene in patient tissues has thus far generated conflicting data on alterations in the steady state levels of DMPK mRNA, and on the final DMPK protein levels in the presence of the expansion. The DM region of chromosome 19 is gene rich, and it is possible that the repeat expansion may lead to dysfunction of a number of transcription units in the vicinity, perhaps as a consequence of chromatin disruption. We have searched for genes associated with a CpG island at the 3' end of DMPK. Sequencing of this region shows that the island extends over 3.5 kb and is interrupted by the (CTG)n repeat. Comparison of genomic sequences down stream (centromeric) of the repeat in human and mouse identified regIons of significant homology. These correspond to exons of a gene predicted to encode a homeodomain protein. RT-PCR analysis shows that this gene, which we have called DM locus-associated homeodomain protein (DMAHP), is expressed in a number of human tissues, including skeletal muscle, heart and brain.

{dagger}Present address; Division of Molecular Genetics, Institute of Biomedical and Life Sciences, University of Glasgow, Anderson College, 56 Dumbarton Road. Glasgow G12 8QQ, UK

§Present address: Departments of Biochemistry & Surgery, Charing Cross and Westminster Medical School, Fuiham Palace Road, London W6 8RE UK


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