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| Description | POU6F2 is a member of a gene family whose products are characterized by the presence of a bipartite DNA-binding domain, consisting of a POU-specific domain and a POU heterodomain, separated by a variable polylinker. Both subdomains contain helix-turn-helix motifs that directly associate with the two components of bipartite DNA-binding sites. In addition, the POU6F2 protein contains a poly-glutamine (poly-Q) domain. Glutamine repeats are evolutionary conserved domains that may act as polar zippers by joining proteins bound to separate DNA segments and thus regulating their activity. POU domain family members are transcriptional regulators, many of which show highly restricted patterns of expression and are known to control cell type-specific differentiation pathways. POU6F2 encodes a deduced 648-amino acid protein. Alternative splicing potentially generates 24 distinct mRNA isoforms coding for proteins with different DNA-binding activity. The most abundant POU6F2 isoforms in human retina have an insertion of an evolutionarily conserved 36-amino acid peptide into the DNA recognition helix of the POU-specific domain. In vitro, the POU domain of POU6F2 lacking the insert binds to a consensus binding site for the product of another gene of the POU family, OCT1, whereas the alternatively spliced POU domain does not. |
| Expression | Immunohistochemical and ribonuclease protection assays showed that in adult mouse Pou6f2 is expressed within the central nervous system, where its expression is restricted to the medial habenula, to a dispersed population of neurons in the dorsal hypothalamus, and to subsets of ganglion and amacrine cells in the retina. In mouse embryo, Pou6f2 expression was detected during the earliest stages of retinal differentiation where it appears to be involved in the initial steps of amacrine and ganglion cell commitment.
RT-PCR analysis of the mouse Pou6f2 gene revealed expression in kidney, adrenal gland, heart, stomach, muscle, and eye, but not in lung or skin, of mouse fetuses at embryonic day (E) 18, and in kidney, heart, muscle, spleen, and ovary, but not in lung, of adult mice. |
| Localisation | nuclear (presumptive). |
| Function | POU-domain family transcription factor (presumptive). |
| Homology | Other POU-domain family genes |
| Retina-derived POU-domain factor-1: a complex POU-domain gene implicated in the development of retinal ganglion and amacrine cells. |
| Zhou H, Yoshioka T, Nathans J |
| The Journal of neuroscience : the official journal of the Society for Neuroscience. 1996 ; 16 (7) : 2261-2274. |
| PMID 8601806 |
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| The virtuoso of versatility: POU proteins that flex to fit. |
| Phillips K, Luisi B |
| Journal of molecular biology. 2000 ; 302 (5) : 1023-1039. |
| PMID 11183772 |
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| Refinement within single yeast artificial chromosome clones of a minimal region commonly deleted on the short arm of chromosome 7 in Wilms tumours. |
| Perotti D, Testi MA, Mondini P, Pilotti S, Green ED, Pession A, Sozzi G, Pierotti MA, Fossati-Bellani F, Radice P |
| Genes, chromosomes & cancer. 2001 ; 31 (1) : 42-47. |
| PMID 11284034 |
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| Germline mutations of the POU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14. |
| Perotti D, De Vecchi G, Testi MA, Lualdi E, Modena P, Mondini P, Ravagnani F, Collini P, Di Renzo F, Spreafico F, Terenziani M, Sozzi G, Fossati-Bellani F, Radice P |
| Human mutation. 2004 ; 24 (5) : 400-407. |
| PMID 15459955 |
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