Disease relevance of Dmbx1

• Neonatal lethality, dwarfism, and abnormal brain development in Dmbx1 mutant mice [1].

High impact information on Dmbx1

• Dmbx1z appears to be a faithful reporter of Dmbx1 expression during embryogenesis and after birth [1].
• Dmbx1- lacks the homeobox and Dmbx1z is an insertion of a lacZ reporter gene [1].
• These results suggest that Otx3 is a novel member of the Otx family and may be involved in the development of the central nervous system [2].
• The 156 amino acid region (residues 1-156) of Otx3/Dmbx1 is required for its repressor activity, and interacts directly with Otx2 [3].
• The paired-type homeobox gene Dmbx1 marks the midbrain and pretectum [4].

Biological context of Dmbx1

• Both mouse and human Dmbx1/DMBX1 have four coding exons and their gene structures are conserved [5].
• Dmbx1 (tauZ ) and Dmbx1 (tauG ) recapitulated the Dmbx1 expression, and the reporter gene expression was detected in the diencephalon and mesencephalon during embryogenesis [6].

Anatomical context of Dmbx1

• As development progresses, Dmbx1 marks the prospective midbrain and pretectum [4].
• At later stages, Dmbx1 is expressed in dynamic domains of the hindbrain and spinal cord [4].
• Interestingly, Dmbx1 expression labels cerebellar granule progenitors at the onset of differentiation and spinal cord V0 interneurons [7].
• With the exception of olfactory neurons, Dmbx1 is expressed only in the developing central nervous system and in particular during early determination and successive differentiation of the midbrain and caudal diencephalon [7].
• The crossing of Dmbx1 ( Cre ) mice with Rosa26 reporter mice identified the Cre-mediated DNA excision in the postnatal midbrain, cerebellum, medulla oblongata, and spinal cord [6].

Regulatory relationships of Dmbx1

• These data suggest that Otx3/Dmbx1 represses Otx2-mediated transcription in the developing brain [3].

Other interactions of Dmbx1

• Dmbx1 shares its caudal border of expression with Otx2, while expression is sharply delimited rostrally by the synencephalic-parencephalic boundary, later becoming restricted to the posterior synencephalon [4].
• We have isolated a paired homeobox containing gene, which has been recently named Dmbx1 (Mech. Dev. 110 (2002) 241) [7].

Analytical, diagnostic and therapeutic context of Dmbx1

• Whole-mount in situ hybridization revealed that Dmbx1 expression is detected in 7.5-9.5 dpc mouse embryos [5].
• Otx3 mRNA was expressed in mouse embryos from 10.5 to 13.5 days postcoitum (dpc) and in adult cerebellum as assessed by Northern blotting [2].

References