Human Molecular Genetics, Vol 7, 415-422, Copyright © 1998 by Oxford University Press
EV Semina, RS Reiter and JC Murray
Homeodomain (HD) proteins are transcription regulators controlling a
variety of cell fates. The HD region characterizing this protein family is
a domain of 60 amino acid residues that recognizes and binds a site in the
regulatory region of the target gene. It has been suggested that regions
outside the HD may determine the specific functions of the various HD
proteins by forming additional contacts with DNA sequences or by
interactions with other proteins. We have identified a 14 amino acid motif
within the C-terminal region of the protein encoded by the RIEG1 gene that
is conserved among several HD proteins. Overlapping expression of the genes
encoding these proteins during craniofacial development suggested that they
might interact with a common factor. In order to identify additional genes
possessing this motif we screened a human craniofacial cDNA library with
oligoprobes. A novel gene was identified, exhibiting the most homology to
murine Og12x (formerly OG12) and the recently reported human SHOX gene.
Human OG12X and murine Og12x are highly homologous and the OG12X and Og12x
proteins are 100% identical. In situ hybridization on mouse embryos ranging
from 9 to 16 days post-coitum localized murine Og12x mRNA in the heart,
otic region, maxillary and mandibular components of the first branchial
arch, nasal processes, eyelid, midbrain, medulla oblongata, limbs, dorsal
root ganglia and genital tubercle. OG12X was mapped to human chromosome
3q22- 26 and murine Og12x to the syntenic region on mouse chromosome 3.
Based upon the expression pattern of its mouse cognate, OG12X represents a
candidate for the blepharophimosis (BPES) and Cornelia de Lange syndromes
previously mapped to this region.
ARTICLES
A new human homeobox gene OGI2X is a member of the most conserved homeobox gene family and is expressed during heart development in mouse
Departments of Pediatrics and Biological Sciences, The University of Iowa, Iowa City, IA 52242, USA.
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