Mammalian Genome

, Volume 9, Issue 3, pp 235–239

The spinal muscular atrophy gene region at 5q13.1 has a paralogous chromosomal region at 6p21.3

  • Joanne L. Banyer
  • Stefano Goldwurm
  • Lara Cullen
  • Benjamin van der Griend
  • Anna Zournazi
  • Darren J. Smit
  • Laurie W. Powell
  • Elizabeth C. Jazwinska
Original Contributions

DOI: 10.1007/s003359900732

Cite this article as:
Banyer, J.L., Goldwurm, S., Cullen, L. et al. Mammalian Genome (1998) 9: 235. doi:10.1007/s003359900732
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Abstract

Paralogous regions are duplicated segments of chromosomal DNA that have been acquired during the evolution of the genome. Subsequent divergent evolution of the genes within paralogous regions can lead to the formation of gene families. Here, we report the identification of a region on Chromosome (Chr) 6 at 6p21.3 that is paralogous with the Spinal Muscular Atrophy (SMA) gene region on Chr 5 at 5q13.1. Partial characterization of this region identified nine sequences all of which are highly homologous to DNA sequences of the SMA gene region at 5ql3.1. These sequences include four β-glucuronidase sequences, two retrotransposon sequences, a novel cDNA, a Sequence Tagged Site (STS), and one that is homologous to exon 9 of the Neuronal Apoptosis Inhibitor Protein (NAIP) gene. The 6p21.3 paralogous SMA region may contain genes that are related to those in the SMA region at 5q13.1; however, a direct association of this region with SMA is unlikely given that no linkage of SMA with Chr 6 has been reported.

Copyright information

© Springer-Verlag 1998

Authors and Affiliations

  • Joanne L. Banyer
    • 1
  • Stefano Goldwurm
    • 1
  • Lara Cullen
    • 1
  • Benjamin van der Griend
    • 1
  • Anna Zournazi
    • 1
  • Darren J. Smit
    • 1
  • Laurie W. Powell
    • 1
  • Elizabeth C. Jazwinska
    • 1
  1. 1.Queensland Institute of Medical ResearchThe Bancroft CentreBrisbaneAustralia
  2. 2.Experimental Haematology Group, Division of Immunology and Cell BiologyJCSMR, ANUCanberraAustralia