A 900-kb cosmid contig and 10 new transcripts within the candidate region for myotubular myopathy (MTM1) - Archive ouverte HAL Access content directly
Journal Articles Genomics Year : 1996

A 900-kb cosmid contig and 10 new transcripts within the candidate region for myotubular myopathy (MTM1)

Petra Kioschis
  • Function : Author
Ute Rogner
  • Function : Author
Elke Pick
  • Function : Author
Sabine Klauck
  • Function : Author
Nina Heiss
  • Function : Author
Renate Siebenhaar
  • Function : Author
Bernhard Korn
  • Function : Author
Johannes Coy
  • Function : Author
Sabina Liechti-Gallati
  • Function : Author
Annemarie Poustka
  • Function : Author

Abstract

The X-linked myotubular myopathy locus (MTM1) has been assigned to the Xq28 region by linkage analysis. By observation of an interstitial deletion in a female patient, the candidate region could be further reduced 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 the entire MTM1 candidate region. Cosmids from the region were used to construct an enriched cDNA library from this area. Filter grids carrying this library were then screened by hybridization with whole cosmid clones, with CpG island-containing fragments from linking clones located in the area, and with total exon trap products of cosmid clones from the candidate region. In this analysis, 10 new transcripts were identified and localized precisely within the map. Genes in this area are candidates for MTM1 and a number of other diseases localized by genetic linkage studies to the chromosomal band Xq28.
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Dates and versions

hal-03831459 , version 1 (26-10-2022)

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Petra Kioschis, Ute Rogner, Elke Pick, Sabine Klauck, Nina Heiss, et al.. A 900-kb cosmid contig and 10 new transcripts within the candidate region for myotubular myopathy (MTM1). Genomics, 1996, 33 (3), pp.365-373. ⟨10.1006/geno.1996.0212⟩. ⟨hal-03831459⟩
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