This gene includes two overlapping reading frames of the same transcript encoding distinct isoforms. The shorter isoform has a CCHC-type zinc finger motif containing a sequence characteristic of gag proteins of most retroviruses and some retrotransposons, and it functions in part by interacting with members of the TGF-beta receptor family. The longer isoform has the active-site DSG consensus sequence of the protease domain of pol proteins. The longer isoform is the result of -1 translational frameshifting that is also seen in some retroviruses. Expression of these two isoforms only comes from the paternal allele due to imprinting. Increased gene expression (as observed by an increase in mRNA levels) is associated with hepatocellular carcinomas.[8]
PEG10 is a paternally expressed imprinted gene that is expressed in adult and embryonic tissues.[9] Most notable expression occurs in the placenta. This gene is highly conserved across mammalian species and retains the heptanucleotide (GGGAAAC). This gene has been reported to play a role in cell proliferation, differentiation and apoptosis. Overexpression of this gene has been associated with several malignancies, such as hepatocellular carcinoma and B-cell lymphocytic leukemia. Knockout mice lacking this gene showed early embryonic lethality with placental defects, indicating the importance of this gene in embryonic development. In preeclampsia placental tissue, PEG10 has been shown to be downregulated[10] and upregulated[11] implicating it as a possible causal role in the occurrence of preeclampsia.
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Ono R, Kobayashi S, Wagatsuma H, Aisaka K, Kohda T, Kaneko-Ishino T, Ishino F (Apr 2001). "A retrotransposon-derived gene, PEG10, is a novel imprinted gene located on human chromosome 7q21". Genomics. 73 (2): 232–7. doi:10.1006/geno.2001.6494. PMID11318613.
^Brandt J, Schrauth S, Veith AM, Froschauer A, Haneke T, Schultheis C, Gessler M, Leimeister C, Volff JN (Jan 2005). "Transposable elements as a source of genetic innovation: expression and evolution of a family of retrotransposon-derived neogenes in mammals". Gene. 345 (1): 101–11. doi:10.1016/j.gene.2004.11.022. PMID15716091.
^Brandt J, Veith AM, Volff JN (Aug 2005). "A family of neofunctionalized Ty3/gypsy retrotransposon genes in mammalian genomes". Cytogenetic and Genome Research. 110 (1–4): 307–17. doi:10.1159/000084963. PMID16093683. S2CID38398479.
^Chen H, Sun M, Zhao G, Liu J, Gao W, Si S, Meng T (Oct 2012). "Elevated expression of PEG10 in human placentas from preeclamptic pregnancies". Acta Histochemica. 114 (6): 589–93. doi:10.1016/j.acthis.2011.11.003. PMID22137777.
^ abOkabe H, Satoh S, Furukawa Y, Kato T, Hasegawa S, Nakajima Y, Yamaoka Y, Nakamura Y (Jun 2003). "Involvement of PEG10 in human hepatocellular carcinogenesis through interaction with SIAH1". Cancer Research. 63 (12): 3043–8. PMID12810624.
Okabe H, Satoh S, Furukawa Y, Kato T, Hasegawa S, Nakajima Y, Yamaoka Y, Nakamura Y (Jun 2003). "Involvement of PEG10 in human hepatocellular carcinogenesis through interaction with SIAH1". Cancer Research. 63 (12): 3043–8. PMID12810624.
Tsou AP, Chuang YC, Su JY, Yang CW, Liao YL, Liu WK, Chiu JH, Chou CK (2004). "Overexpression of a novel imprinted gene, PEG10, in human hepatocellular carcinoma and in regenerating mouse livers". Journal of Biomedical Science. 10 (6 Pt 1): 625–35. doi:10.1159/000073528. PMID14576465. S2CID202655065.
He H, Olesnanik K, Nagy R, Liyanarachchi S, Prasad ML, Stratakis CA, Kloos RT, de la Chapelle A (Jul 2005). "Allelic variation in gene expression in thyroid tissue". Thyroid. 15 (7): 660–7. doi:10.1089/thy.2005.15.660. PMID16053381.
Hu C, Xiong J, Zhang L, Huang B, Zhang Q, Li Q, Yang M, Wu Y, Wu Q, Shen Q, Gao Q, Zhang K, Sun Z, Liu J, Jin Y, Tan J (Aug 2004). "PEG10 activation by co-stimulation of CXCR5 and CCR7 essentially contributes to resistance to apoptosis in CD19+CD34+ B cells from patients with B cell lineage acute and chronic lymphocytic leukemia". Cellular & Molecular Immunology. 1 (4): 280–94. PMID16225771.