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. 2014 Mar 6;94(3):395-404.
doi: 10.1016/j.ajhg.2014.01.019. Epub 2014 Feb 27.

An expressed retrogene of the master embryonic stem cell gene POU5F1 is associated with prostate cancer susceptibility

Joan P Breyer  1 , Daniel C Dorset  1 , Travis A Clark  1 , Kevin M Bradley  2 , Tiina A Wahlfors  3 , Kate M McReynolds  1 , William H Maynard  1 , Sam S Chang  4 , Michael S Cookson  4 , Joseph A Smith  4 , Johanna Schleutker  5 , William D Dupont  6 , Jeffrey R Smith  7
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An expressed retrogene of the master embryonic stem cell gene POU5F1 is associated with prostate cancer susceptibility

Joan P Breyer et al. Am J Hum Genet. .

Abstract

Genetic association studies of prostate and other cancers have identified a major risk locus at chromosome 8q24. Several independent risk variants at this locus alter transcriptional regulatory elements, but an affected gene and mechanism for cancer predisposition have remained elusive. The retrogene POU5F1B within the locus has a preserved open reading frame encoding a homolog of the master embryonic stem cell transcription factor Oct4. We find that 8q24 risk alleles are expression quantitative trait loci correlated with reduced expression of POU5F1B in prostate tissue and that predicted deleterious POU5F1B missense variants are also associated with risk of transformation. POU5F1 is known to be self-regulated by the encoded Oct4 transcription factor. We further observe that POU5F1 expression is directly correlated with POU5F1B expression. Our results suggest that a pathway critical to self-renewal of embryonic stem cells may also have a role in the origin of cancer.

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Figures

Figure 1
Figure 1
POU5F1 versus POU5F1B Expression in Patients with Both Normal and Tumor Prostate Tissue Data Expression of these genes is positively correlated in both normal and tumor tissue. There is somatic gain of POU5F1B and loss of POU5F1 expression in tumors. Normal and tumor data points for a given patient are designated by an interconnecting line.
See this image and copyright information in PMC

References

    1. Kastler S., Honold L., Luedeke M., Kuefer R., Möller P., Hoegel J., Vogel W., Maier C., Assum G. POU5F1P1, a putative cancer susceptibility gene, is overexpressed in prostatic carcinoma. Prostate. 2010;70:666–674. - PubMed
    1. Atlasi Y., Mowla S.J., Ziaee S.A., Gokhale P.J., Andrews P.W. OCT4 spliced variants are differentially expressed in human pluripotent and nonpluripotent cells. Stem Cells. 2008;26:3068–3074. - PubMed
    1. Cauffman G., Liebaers I., Van Steirteghem A., Van de Velde H. POU5F1 isoforms show different expression patterns in human embryonic stem cells and preimplantation embryos. Stem Cells. 2006;24:2685–2691. - PubMed
    1. Lee J., Kim H.K., Rho J.Y., Han Y.M., Kim J. The human OCT-4 isoforms differ in their ability to confer self-renewal. J. Biol. Chem. 2006;281:33554–33565. - PubMed
    1. Prensner J.R., Iyer M.K., Balbin O.A., Dhanasekaran S.M., Cao Q., Brenner J.C., Laxman B., Asangani I.A., Grasso C.S., Kominsky H.D. Transcriptome sequencing across a prostate cancer cohort identifies PCAT-1, an unannotated lincRNA implicated in disease progression. Nat. Biotechnol. 2011;29:742–749. - PMC - PubMed

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