Mammalian Genome

, Volume 11, Issue 10, pp 890–898

Comparative genomic sequence analysis of the Williams syndrome region (LIMK1-RFC2) of human Chromosome 7q11.23

  • Duane W.  Martindale
  • Michael D.  Wilson
  • Diana  Wang
  • Robert D.  Burke
  • Xianming  Chen
  • Vincent  Duronio
  • Ben F.  Koop
Article

DOI: 10.1007/s003350010166

Cite this article as:
Martindale, D., Wilson, M., Wang, D. et al. Incorporating Mouse Genome (2000) 11: 890. doi:10.1007/s003350010166

Abstract.

Williams syndrome (WS) is a complex neurodevelopmental disorder arising from a microdeletion at Chr band 7q11.23, which results in a hemizygous condition for a number of genes. Within this region we have completely characterized 200 kb containing the genes LIMK1, WBSCR1, and RFC2. Evidence was also found for WBSCR5 in this region, but not the previously proposed genes WSCR2 and WSCR6. The syntenic region in mouse was also sequenced (115 kb) and characterized, and a comparative sequence analysis with a percent identity plot (PIP) easily allowed us to identify coding exons. This genomic region is GC rich (50.1% human, 49.9% mouse) and contains an unusually high abundance of repetitive elements consisting primarily of Alu (45.4%, one of the highest levels identified to date) in human, and the B family of SINES (30.6% of the total sequence) in mouse. WBSCR1 corresponds to eukaryotic initiation factor 4H, identified in rabbit, and is herein found to be constitutively expressed in both human and mouse, with two RNA and protein products formed (exon 5 is alternatively spliced). The transcription pattern of WBSCR5 was also examined and discussed along with its putative amino acid sequence.

Copyright information

© Springer-Verlag New York Inc. 2000

Authors and Affiliations

  • Duane W.  Martindale
    • 1
  • Michael D.  Wilson
    • 1
  • Diana  Wang
    • 1
  • Robert D.  Burke
    • 1
  • Xianming  Chen
    • 2
  • Vincent  Duronio
    • 2
  • Ben F.  Koop
    • 1
  1. 1.Department of Biology, Centre for Environmental Health, P.O. Box 3020, University of Victoria, Victoria, British Columbia, V8W 3N5 CanadaCA
  2. 2.Department of Medicine, Jack Bell Research Centre, University of British Columbia, Vancouver, British Columbia, CanadaCA

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