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NANOG

MIM.607937

Wednesday 3 January 2007

Definition: The NANOG gene is a member of the homeobox family of DNA binding transcription factors. It was recently identified in a screen for pluripotency-promoting genes.

NANOG overexpression in murine embryonic stem cells is sufficient to maintain self-renewal and to block differentiation.

The NANOG gene is located on human chromosome 12p13, a region frequently duplicated in human tumors of germ cell origin and in cultured human embryonic stem cells.

The homeodomain transcription factor, NANOG, along with OCT3/4 (POU5F1) and SOX2, is part of the core set of transcription factors that maintain embryonic stem cell self-renewal and pluripotency.

Expression of NANOG has been detected in fetal germ cells and in gonadal germ cell tumors.

Function

- OCT3/4-SOX2 mediated expression of NANOG can be silenced by methylation of promoter CpG-sites. (20930529)

- CpGs in the NANOG promoter are hypomethylated in spermatogonia and hypermethylated in sperm. This selective repression might reflect the cells need to suppress pluripotency in order to prevent malignant transformation. (20930529)

Pathology

- NANOG is expressed in germline stem cells (gonocytes), CIS, embryonal carcinoma, and seminoma. (16206293)

- NANOG is a molecular marker of undifferentiated germ cell tumors provides a novel tool for identifying and classifying tumors of germ cell origin. (16206293)

- Methylation of CpGs in the NANOG promoter in germ cell tumors and derived cell lines correlated to differentiation state. (20930529)

- NANOG promoter methylation and expression correlation during normal and malignant human germ cell development. (20930529)

References

- NANOG promoter methylation and expression correlation during normal and malignant human germ cell development. Nettersheim D, Biermann K, Gillis AJ, Steger K, Looijenga LH, Schorle H. Epigenetics. 2011 Jan 29;6(1). PMID: 20930529

- Diagnostic Utility of Novel Stem Cell Markers SALL4, OCT4, NANOG, SOX2, UTF1, and TCL1 in Primary Mediastinal Germ Cell Tumors. Liu A, Cheng L, Du J, Peng Y, Allan RW, Wei L, Li J, Cao D. Am J Surg Pathol. 2010 May;34(5):697-706. PMID: 20410807

- Santagata S, Hornick JL, Ligon KL. Comparative analysis of germ cell transcription factors in CNS germinoma reveals diagnostic utility of NANOG. Am J Surg Pathol. 2006 Dec;30(12):1613-8. PMID: 17122519

- Hart AH, Hartley L, Parker K, Ibrahim M, Looijenga LH, Pauchnik M, Chow CW, Robb L. The pluripotency homeobox gene NANOG is expressed in human germ cell tumors. Cancer. 2005 Nov 15;104(10):2092-8. PMID: 16206293