Physical and transcriptional mapping of the spinal muscular atrophy disease gene region
- Catholic Univ., Rome (Italy); and others
The locus responsible for childhood-onset spinal muscular atrophies (SMA) has recently been mapped to an area of approximately 1.6 Mb at 5q13, flanked by the loci D5S435 and D5S557. From this region we have isolated cosmids derived from four different libraries, one constructed from a radiation hybrid and the other three from large overlapping YACs (Y116, Y122 and Y97) covering approximately 1.3 Mb of the YAC contig established by Kleyn et al. (1993). Pulsed field maps were constructed of these YACs and the cosmids were located and aligned in partial contigs. To identify genes we screened the cosmids both for the presence of exons using oligonucleotides corresponding to splice-site junctions and for the presence of evolutionarily conserved sequences. So far we detected a 5{prime} splice site in two sets of overlapping clones. Partial sequencing of subclones revealed long open reading frames, displaying no homology with known sequences. Conserved sequences were found in one of these and three additional cosmids. These DNA fragments potentially mark the sites of candidate SMA genes. Isolation of corresponding cDNAs is in progress.
- OSTI ID:
- 134387
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-1121
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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