A STS Content Physical and Transcription Map across theky, Kyphoscoliosis, Nonrecombinant Region

• Published in: Genomics (San Diego, Calif.) Calif.), 1998-12, Vol.54 (3), p.415-423
• Main Authors: Blanco, G., Nikitopoulou, A., Kraus, M., Mason, R.M., Coulton, G.R., Brown, S.D.M.
• Format: Article
• Language: English
• ISSN: 0888-7543; 1089-8646
• DOI: 10.1006/geno.1998.5614

Thekymouse mutant exhibits a degenerative muscle disease resulting in chronic deformation of the spinal column. Following a previous report describing the mapping of thekylocus to a small region of mouse chromosome 9 (Skynneret al.,1995,Genomics25, 207–213), we have now undertaken a positional cloning approach to identify candidate genes forky. A YAC/BAC contig encompassing thekylocus was constructed comprising 48 YAC clones and 48 newly generated STSs. The results from the combined physical and genetic analyses showed that only two overlapping BAC clones, which together do not exceed 260 kb, span thekynonrecombinant region. A combination of gene hunting methods on the critical BACs has led to the identification of seven coding fragments, which have been tested for expression. The expression analysis and the position of the coding fragments on the contig suggest their grouping in at least four transcription units. One of these transcription units is expressed exclusively in skeletal muscle, making it a suitable candidate for this muscle defect in thekymouse.