A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13 |
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Authors: | Francis, Michael J. Morrison, Karen E. Campbell, Louise Grewal, Prabhjit K. Christodoulou, Zoe Daniels, Rachael J. Monaco, Anthony P. Frischauf, Anne-Marie McPherson, John Wasmuth, John Davies, Kay E. |
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Affiliation: | Molecular Genetics Group, Institute of Molecular Medicine, John Radcliffe Hospital Headington, Oxford OX3 9DU 1Imperial Cancer Research Fund, Institute of Molecular Medicine, John Radcliffe Hospital Headington, Oxford OX3 9DU 2Imperial Cancer Research Fund Laboratories PO Box 123, Lincoln's Inn Fields, London WC2A 3PX, UK 3Department of Biological Chemistry, D240, Medical Sciences I, University of California Irvine, CA 92717, USA |
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Abstract: | We have constructed a contig of non-chimaeric yeast artificialchromosomes (YACs) across the candidate region for childhoodautosomal recessive spinal muscular atrophy (SMA) In 5q13. Anovel microsatellite reduces the candidate region to approximately400kb of DNA distal to D5S435. The candidate region containsblocks of chromosome 5 specific repeats which have copies on5p as well as elsewhere on 5q. Restriction mapping of the YACsreveals at least one CpG island In the SMA gene region. TheYAC maps indicate that the contig contains minimal rearrangementsor deletions. The data show the value of screening several YAClibraries simultaneously in order to construct a set of overlappingsequences suitable for candidate gene searches and direct genomicsequencing. |
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