A 900-KB COSMID CONTIG AND 10 NEW TRANSCRIPTS WITHIN THE CANDIDATE REGION FOR MYOTUBULAR MYOPATHY (MTM1)

The X-linked myotubular myopathy locus (MTM1) has been assigned to the Xq28 region by linkage analysis. By observation of an interstitial de letion in a female patient, the candidate region could be further redu ced to a region of 600 kb flanked by the markers DXS304 and DXS497. We describe here cosmid contigs covering a region of 900 kb, including t he entire MTM1 candidate region. Cosmids from the region were used to construct an enriched cDNA library from this area. Filter grids carryi ng this library were then screened by hybridization with whole cosmid clones, with CpG island-containing fragments from linking clones locat ed in the area, and with total exon trap products of cosmid clones fro m the candidate region. In this analysis, 10 new transcripts were iden tified and localized precisely within the map. Genes in this area are candidates for MTM1 and a number of other diseases localized by geneti c linkage studies to the chromosomal band Xq28. (C) 1996 Academic Pres s, Inc.