A new human homeobox gene OGI2X is a member of the most conserved homeobox gene family and is expressed during heart development in mouse

Elena V Semina; Rebecca S Reiter; Jeffrey C Murray

doi:10.1093/hmg/7.3.415

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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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A new human homeobox gene OGI2X 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

Human molecular genetics, Vol.7(3), pp.415-422

1998

DOI: 10.1093/hmg/7.3.415

PMID: 9466998

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Abstract

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.

Molecular Genetics

Fundamental and applied biological sciences. Psychology

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Molecular and cellular biology

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Title: Subtitle: A new human homeobox gene OGI2X is a member of the most conserved homeobox gene family and is expressed during heart development in mouse
Creators: Elena V Semina - Department of Pediatrics, The University of Iowa, Iowa City, IA 52242, United States
Rebecca S Reiter - Department of Biological Sciences, The University of Iowa, Iowa City, IA 52242, United States
Jeffrey C Murray - Department of Pediatrics, The University of Iowa, Iowa City, IA 52242, United States
Resource Type: Journal article
Publication Details: Human molecular genetics, Vol.7(3), pp.415-422
DOI: 10.1093/hmg/7.3.415
PMID: 9466998
NLM abbreviation: Hum Mol Genet
ISSN: 0964-6906
eISSN: 1460-2083
Publisher: Oxford University Press; Oxford
Language: English
Date published: 1998
Academic Unit: Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
Record Identifier: 9984025348402771

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