Journal Article

A New Human Homeobox Gene <i>OGI2X</i> is a Member of the Most Conserved Homeobox Gene Family and is Expressed During Heart Development in Mouse

Elena V. Semina, Rebecca S. Reiter and Jeffrey C. Murray

in Human Molecular Genetics

Volume 7, issue 3, pages 415-422
Published in print March 1998 | ISSN: 0964-6906
Published online March 1998 | e-ISSN: 1460-2083 | DOI:
A New Human Homeobox Gene OGI2X is a Member of the Most Conserved Homeobox Gene Family and is Expressed During Heart Development in Mouse

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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.

Journal Article.  5261 words.  Illustrated.

Subjects: Genetics and Genomics

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