Human Genetics

, Volume 84, Issue 5, pp 473–476

The human homeobox gene HOX7 maps to chromosome 4p16.1 and may be implicated in Wolf-Hirschhorn syndrome

  • Alasdair Ivens
  • Nora Flavin
  • Robert Williamson
  • Michael Dixon
  • Gillian Bates
  • Margaret Buckingham
  • Benoit Robert
Short Communications

Summary

A cosmid containing the human sequence (HOX7) homologous to the mouse homeogene Hox-7 was isolated from a genomic cosmid library. There is only one highly conserved homologous gene in the human genome. The C-terminal two-thirds of the HOX7 homeobox DNA sequence has been determined; there are no predicted amino acid changes from the mouse sequence. Data from mouse/human hybrid cell lines show that HOX7 maps to human chromosome 4p16.1, a region that is syntenic with part of mouse chromosome 5, the site of the murine Hox-7 gene. Analysis of chromosomes from two patients with Wolf-Hirschhorn syndrome, which is characterised by profound dysmorphologies, indicates that the HOX7 locus is deleted. Although not all Wolf-Hirschhorn syndrome patients analysed were deleted for HOX7, the combination of positional data and functional correlation with mouse expression implicates HOX7 as a candidate gene for this syndrome.

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Copyright information

© Springer-Verlag 1990

Authors and Affiliations

  • Alasdair Ivens
    • 1
  • Nora Flavin
    • 1
  • Robert Williamson
    • 1
  • Michael Dixon
    • 1
  • Gillian Bates
    • 2
  • Margaret Buckingham
    • 3
  • Benoit Robert
    • 3
  1. 1.Department of Biochemistry and Molecular GeneticsSt. Mary's Hospital Medical SchoolLondonUK
  2. 2.Imperial Cancer Research FundLondonUK
  3. 3.Institut PasteurParisFrance

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