title: A 900-kb cosmid contig and 10 new transcripts within the candidate region for myotubular myopathy (MTM1).
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.
authors.affiliation: Deutsches Krebsforschungszentrum, Abteilung Molekulare Genomanalyse, Im Neuenheimer Feld 280, Heidelberg, 69120, Germany.
authors.forename: P
authors.initials: P
authors.lastname: Kioschis
authors.forename: U C
authors.initials: UC
authors.lastname: Rogner
authors.forename: E
authors.initials: E
authors.lastname: Pick
authors.forename: S M
authors.initials: SM
authors.lastname: Klauck
authors.forename: N
authors.initials: N
authors.lastname: Heiss
authors.forename: R
authors.initials: R
authors.lastname: Siebenhaar
authors.forename: B
authors.initials: B
authors.lastname: Korn
authors.forename: J F
authors.initials: JF
authors.lastname: Coy
authors.forename: J
authors.initials: J
authors.lastname: Laporte
authors.forename: S
authors.initials: S
authors.lastname: Liechti-Gallati
authors.forename: A
authors.initials: A
authors.lastname: Poustka
mesh_terms: D000328:Adult; D000818:Animals; D001483:Base Sequence; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D003360:Cosmids; D006224:Cricetinae; D017931:DNA Primers; D018076:DNA, Complementary; D005091:Exons; D005260:Female; D015870:Gene Expression; D015723:Gene Library; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D006822:Hybrid Cells; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000378:metabolism; D009135:Muscular Diseases / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017027:Protein Tyrosine Phosphatases / Q000096:biosynthesis / Q000235:genetics*; D054558:Protein Tyrosine Phosphatases, Non-Receptor; D015183:Restriction Mapping; D014158:Transcription, Genetic; D014960:X Chromosome
chemical_list: D017931:DNA Primers; D018076:DNA, Complementary; D005819:Genetic Markers; D017027:Protein Tyrosine Phosphatases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin