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. Monaco, Anne Marie Frischauf, John Douglas Mcpherson, John Wasmuth, Kay E. Davies

Research output: Contribution to journalArticle

74 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1161-1167
Number of pages7
JournalHuman Molecular Genetics
Volume2
Issue number8
DOIs
StatePublished - Aug 1993

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13'. Together they form a unique fingerprint.

  • Cite this

    Francis, M. J., Morrison, K. E., Campbell, L., Grewal, P. K., Christodoulou, Z., Daniels, R. J., Monaco, A. P., Frischauf, A. M., Mcpherson, J. D., Wasmuth, J., & Davies, K. E. (1993). A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13. Human Molecular Genetics, 2(8), 1161-1167. https://doi.org/10.1093/hmg/2.8.1161