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Gene Review:

OTX1 - orthodenticle homeobox 1

Homo sapiens

Synonyms: Homeobox protein OTX1, Orthodenticle homolog 1

de Haas, T. et al., Francks, C. et al., Acampora, D. et al., Acampora, D. et al., Beisel, K.W. et al.

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Disease relevance of OTX1

Here, we analyzed amplification and mRNA expression of OTX1 and OTX2 in a series of human medulloblastomas [1].

High impact information on OTX1

Unexpectedly, in spite of the RNA distribution in both visceral endoderm (VE) and epiblast, the hOTX1 protein was synthesized only in the VE [2].
OTX2 mRNA expression correlated with a classic medulloblastoma histology (29 of 34 cases), whereas expression of OTX1 mRNA only was correlated with a nodular/desmoplastic histology (9 of 11 cases) [1].
The genes were Semaphorin4F (SEMA4F), which encodes a protein involved in axonal growth cone guidance, and OTX1, encoding a homeodomain transcription factor involved in forebrain development [3].
Only one single nucleotide polymorphism was found in OTX1, which was exonic but silent [3].
Fine mapping of the chromosome 2p12-16 dyslexia susceptibility locus: quantitative association analysis and positional candidate genes SEMA4F and OTX1 [3].

Anatomical context of OTX1

Otx1 also governs the segregation of saccule and utricle [4].

Other interactions of OTX1

OTX1 compensates for OTX2 requirement in regionalisation of anterior neuroectoderm [5].

Analytical, diagnostic and therapeutic context of OTX1

Northern blot (n = 10) and reverse transcriptase-polymerase chain reaction (n = 45) analyses demonstrated that virtually all medulloblastomas expressed OTX1, OTX2, or both [1].

References

OTX1 and OTX2 expression correlates with the clinicopathologic classification of medulloblastomas. de Haas, T., Oussoren, E., Grajkowska, W., Perek-Polnik, M., Popovic, M., Zadravec-Zaletel, L., Perera, M., Corte, G., Wirths, O., van Sluis, P., Pietsch, T., Troost, D., Baas, F., Versteeg, R., Kool, M. J. Neuropathol. Exp. Neurol. (2006) [Pubmed]
Visceral endoderm-restricted translation of Otx1 mediates recovery of Otx2 requirements for specification of anterior neural plate and normal gastrulation. Acampora, D., Avantaggiato, V., Tuorto, F., Briata, P., Corte, G., Simeone, A. Development (1998) [Pubmed]
Fine mapping of the chromosome 2p12-16 dyslexia susceptibility locus: quantitative association analysis and positional candidate genes SEMA4F and OTX1. Francks, C., Fisher, S.E., Olson, R.K., Pennington, B.F., Smith, S.D., DeFries, J.C., Monaco, A.P. Psychiatr. Genet. (2002) [Pubmed]
Development and evolution of the vestibular sensory apparatus of the mammalian ear. Beisel, K.W., Wang-Lundberg, Y., Maklad, A., Fritzsch, B. Journal of vestibular research : equilibrium & orientation. (2005) [Pubmed]
OTX1 compensates for OTX2 requirement in regionalisation of anterior neuroectoderm. Acampora, D., Annino, A., Puelles, E., Alfano, I., Tuorto, F., Simeone, A. Gene Expr. Patterns (2003) [Pubmed]

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OTX1	Bos taurus
OTX1	Canis lupus familiaris
otx1b	Danio rerio
LOC694175	Macaca mulatta
Otx1	Mus musculus
OTX1	Pan troglodytes
Otx1	Rattus norvegicus
otx1	Xenopus (Silurana) tropicalis

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