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© 1993 Oxford University Press

RESEARCH-ARTICLE

A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13

Michael J. Francis, Karen E. Morrison, Louise Campbell, Prabhjit K. Grewal, Zóe Christodoulou, Rachael J. Daniels, Anthony P. Monaco1, Anne-Marie Frischauf2, John McPherson3, John Wasmuth3 and Kay E. Davies*

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

* To whom correspondence should be addressed

Received April 26, 1993; Revised June 7, 1993; Accepted June 7, 1993

We have constructed a contig of non-chimaeric yeast artificial chromosomes (YACs) across the candidate region for childhood autosomal recessive spinal muscular atrophy (SMA) In 5q13. A novel microsatellite reduces the candidate region to approximately 400kb of DNA distal to D5S435. The candidate region contains blocks of chromosome 5 specific repeats which have copies on 5p as well as elsewhere on 5q. Restriction mapping of the YACs reveals at least one CpG island In the SMA gene region. The YAC maps indicate that the contig contains minimal rearrangements or deletions. The data show the value of screening several YAC libraries simultaneously in order to construct a set of overlapping sequences suitable for candidate gene searches and direct genomic sequencing.


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