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Gene Review:

POU4F1 - POU class 4 homeobox 1

Homo sapiens

Synonyms: BRN3A, Brain-3A, Brain-specific homeobox/POU domain protein 3A, Brn-3A, Homeobox/POU domain protein RDC-1, ...

Jones, S.W. et al., Bhargava, A.K. et al., Nilsson, M. et al., Collum, R.G. et al., Heesen, M. et al., et al.

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Disease relevance of POU4F1

In addition, RDC-1 is expressed in a unique subset of tumors of the peripheral nervous system including neuroepitheliomas and Ewing's sarcomas but not neuroblastomas [1].
Treatment for 24h with RDC1 agonist led to altered expression of a number of genes associated with chondrocyte hypertrophy and increased matrix degradation in human primary chondrocytes, and elevated total matrix metalloproteinase (MMP) activity in cartilage explant [2].
CONCLUSIONS: RDC1 activation in human chondrocytes and cartilage explant leads to changes in gene expression and activity associated with chondrocyte hypertrophy, angiogenesis and increased matrix degradation, suggesting signalling via the RDC1 receptor may play an important role in the early development of osteoarthritis (OA) [2].
In four of seven cases there was a breakpoint within the sequence covered by probe 260J21, where the RDC1 gene is located, a gene reported to fuse with HMGIC in lipomas with a 2;12 translocation [3].

High impact information on POU4F1

Sequence analysis of the Oct-T1 cDNA showed an open reading frame coding for a POU domain-containing protein of 42.7 kDa [4].
Transient transfection of the gene encoding Oct-T1 decreased the activity of the interleukin 2 gene promoter in activated Jurkat cells [4].
We identified the presence of four members of the POU family of proteins, Oct-1, Oct-2, Oct-T1, and Oct-T2, in the human T-cell line Jurkat [4].
Treatment of human primary chondrocytes with RDC1 agonist induced a Ca2+ response, suggesting the receptor is active in this tissue type [2].
The effect of RDC1 activation on human chondrocytes and cartilage explant gene expression was determined by quantitative real-time polymerase chain reaction (PCR), and these effects validated as being mediated by RDC1 using siRNA antisense [2].

Anatomical context of POU4F1

We have refined the location of the Brn-3a genomic locus (POU4F1), using somatic cell hybrid analysis, to 13q21.1-->q22 [5].
A virtual screen of in-house compounds was then performed and positive hits screened for their ability to invoke a Ca2+ response in a recombinant RDC1 HEK293 cell line, as measured by FLIPR [2].
Transcripts of RDC1 were found in astrocytes, heart, kidney, the mesangial tumor line MES-13, spleen, and neutrophils by means of northern blot [6].

References

A novel POU homeodomain gene specifically expressed in cells of the developing mammalian nervous system. Collum, R.G., Fisher, P.E., Datta, M., Mellis, S., Thiele, C., Huebner, K., Croce, C.M., Israel, M.A., Theil, T., Moroy, T. Nucleic Acids Res. (1992) [Pubmed]
The orphan G-protein coupled receptor RDC1: evidence for a role in chondrocyte hypertrophy and articular cartilage matrix turnover. Jones, S.W., Brockbank, S.M., Mobbs, M.L., Le Good, N.J., Soma-Haddrick, S., Heuze, A.J., Langham, C.J., Timms, D., Newham, P., Needham, M.R. Osteoarthr. Cartil. (2006) [Pubmed]
Molecular cytogenetic mapping of recurrent chromosomal breakpoints in tenosynovial giant cell tumors. Nilsson, M., Höglund, M., Panagopoulos, I., Sciot, R., Dal Cin, P., Debiec-Rychter, M., Mertens, F., Mandahl, N. Virchows Arch. (2002) [Pubmed]
Differential expression of four members of the POU family of proteins in activated and phorbol 12-myristate 13-acetate-treated Jurkat T cells. Bhargava, A.K., Li, Z., Weissman, S.M. Proc. Natl. Acad. Sci. U.S.A. (1993) [Pubmed]
The Brn-3a transcription factor gene (POU4F1) maps close to the locus for the variant late infantile form of neuronal ceroid-lipofuscinosis. Still, I.H., Cowell, J. Cytogenet. Cell Genet. (1996) [Pubmed]
Cloning and chromosomal mapping of an orphan chemokine receptor: mouse RDC1. Heesen, M., Berman, M.A., Charest, A., Housman, D., Gerard, C., Dorf, M.E. Immunogenetics (1998) [Pubmed]

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pou4f1	Danio rerio
Pou4f1	Mus musculus
POU4F1	Pan troglodytes
Pou4f1	Rattus norvegicus
LOC100488759	Xenopus (Silurana) tropicalis

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