JARID2 explained

Protein Jumonji is a protein that in humans is encoded by the JARID2 gene.^{[1] [2]} JARID2 is a member of the alpha-ketoglutarate-dependent hydroxylase superfamily.

Jarid2 (jumonji, AT rich interactive domain 2) is a protein coding gene that functions as a putative transcription factor. Distinguished as a nuclear protein necessary for mouse embryogenesis, Jarid2 is a member of the jumonji family that contains a DNA binding domain known as the AT-rich interaction domain (ARID).^{[3] [4] [5] [6]} In vitro studies of Jarid2 reveal that ARID along with other functional domains are involved in DNA binding, nuclear localization, transcriptional repression,^[7] and recruitment of Polycomb-repressive complex 2 (PRC2).^{[8] [9]} Intracellular mechanisms underlying these interactions remain largely unknown.

In search of developmentally important genes, Jarid2 has previously been identified by gene trap technology as an important factor necessary for organ development.^{[3] [7] [10]} During mouse organogenesis, Jarid2 is involved in the formation of the neural tube and development of the liver, spleen, thymus and cardiovascular system.^{[11] [12]} Continuous Jarid2 expression in the tissues of the heart, highlight its presiding role in the development of both the embryonic and the adult heart.^[3] Mutant models of Jarid2 embryos show severe heart malformations, ventricular septal defects, noncompaction of the ventricular wall, and atrial enlargement.^[3] Homozygous mutants of Jarid2 are found to die soon after birth.^[3] Overexpression of the mouse Jarid2 gene has been reported to repress cardiomyocyte proliferation through it close interaction with retinoblastoma protein (Rb), a master cell cycle regulator.^[13] Retinoblastoma-binding protein-2 and the human SMCX protein share regions of homology between mice and humans.

Further reading

• Lee Y, Song AJ, Baker R, etal . Jumonji, a nuclear protein that is necessary for normal heart development. . Circ. Res. . 86 . 9 . 932–8 . 2000 . 10807864 . 10.1161/01.res.86.9.932. free .
• Toyoda M, Kojima M, Takeuchi T . Jumonji is a nuclear protein that participates in the negative regulation of cell growth. . Biochem. Biophys. Res. Commun. . 274 . 2 . 332–6 . 2000 . 10913339 . 10.1006/bbrc.2000.3138 .
• Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Mungall AJ, Palmer SA, Sims SK, etal . The DNA sequence and analysis of human chromosome 6. . Nature . 425 . 6960 . 805–11 . 2003 . 14574404 . 10.1038/nature02055 . 2003Natur.425..805M . free .
• Volcik KA, Zhu H, Finnell RH, etal . Evaluation of the jumonji gene and risk for spina bifida and congenital heart defects. . Am. J. Med. Genet. A . 126 . 2 . 215–7 . 2004 . 15057990 . 10.1002/ajmg.a.20574 . 221248186 .
• Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Kim TG, Chen J, Sadoshima J, Lee Y . Jumonji represses atrial natriuretic factor gene expression by inhibiting transcriptional activities of cardiac transcription factors. . Mol. Cell. Biol. . 24 . 23 . 10151–60 . 2005 . 15542826 . 10.1128/MCB.24.23.10151-10160.2004 . 529025 .
• Pedrosa E, Ye K, Nolan KA, etal . Positive association of schizophrenia to JARID2 gene. . Am. J. Med. Genet. B Neuropsychiatr. Genet. . 144 . 1 . 45–51 . 2007 . 16967465 . 10.1002/ajmg.b.30386 . 25560999 .

Notes and References

1. Berge-Lefranc JL, Jay P, Massacrier A, Cau P, Mattei MG, Bauer S, Marsollier C, Berta P, Fontes M . Characterization of the human jumonji gene . Hum Mol Genet . 5 . 10 . 1637–41 . Feb 1997 . 8894700 . 10.1093/hmg/5.10.1637 . free .
2. Web site: Entrez Gene: JARID2 jumonji, AT rich interactive domain 2.
3. Kim TG, Kraus JC, Chen J, Lee Y . Jumonji, a critical factor for cardiac development, functions as a transcriptional repressor . J. Biol. Chem. . 278 . 43 . 42247–55 . 2004 . 12890668 . 10.1074/jbc.M307386200 . free .
4. Mysliwiec MR, Kim TG, Lee Y . Characterization of zinc finger protein 496 that interacts with jumonji/jarid2. . FEBS Letters . 581 . 14 . 2633–40 . 2007 . 10.1016/j.febslet.2007.05.006. 17521633 . 2002548 .
5. Takahashi M, Kojima M, Nakajima K, Suzuki-Migishima R, Motegi Y, Yokoyama M, Takeuchi, T. Cardiac abnormalities cause early lethality of jumonji mutant mice . Biochemical and Biophysical Research Communications . 324 . 4 . 1319–23 . 2004 . 10.1016/j.bbrc.2004.09.203. 15504358 .
6. Toyoda M, Kojima M, Takeuchi T . Jumonji is a nuclear protein that participates in the negative regulation of cell growth. Biochemical and Biophysical Research Communications . 274 . 2 . 332–6 . 2000 . 10.1006/bbrc.2000.3138. 10913339.
7. Klassen SS, Rabkin SW . Nitric oxide induces gene expression of jumonji and retinoblastoma 2 protein while reducing expression of atrial natriuretic peptide precursor type B in cardiomyocytes . Folia Biologica . 54 . 2 . 65–70 . 2008 . 18498724 .
8. Pasini D, Cloos PA, Walfridsson J, Olsson L, Bukowski JP, Johansen JV, Helin K. JARID2 regulates binding of the polycomb repressive complex 2 to target genes in ES cells. . Nature . 464 . 7286 . 306–10 . 2010 . 10.1038/nature08788. 20075857 . 2010Natur.464..306P . 205219740 .
9. Son J, Shen SS, Margueron R, Reinberg D . Nucleosome-binding activities within JARID2 and EZH1 regulate the function of PRC2 on chromatin . Genes & Development . 27 . 24 . 2663–77 . 2013 . 10.1101/gad.225888.113. 24352422 . 3877756 .
10. Jung J, Mysliwiec MR, Lee Y . Roles of Jumonji in mouse embryonic development . Developmental Dynamics . 232 . 1 . 21–32 . 2005 . 10.1002/dvdy.20204. 15580614 . 31338749 . free .
11. Motoyama J, Kitajima K, Kojima M, Kondo S, Takeuchi T. Organogenesis of the liver, thymus and spleen is affected in jumonji mutant mice. . Mechanisms of Development . 66 . 1–2 . 27–37 . 1997 . 10.1016/s0925-4773(97)00082-8. 9376320 . 6531281 .
12. Takeuchi T, Yamazaki Y, Katoh-Fukui Y, Tsuchiya R, Kondo S, Motoyama J, Higashinakagawa T . Gene trap capture of a novel mouse gene, jumonji, required for neural tube formation. Genes & Development . 9 . 10 . 1211–22 . 1995 . 10.1101/gad.9.10.1211. 7758946. free .
13. Mysliwiec MR, Chen J, Powers PA, Bartley CR, Schneider MD, Lee Y. Generation of a conditional null allele of jumonji. . Genesis . 44 . 9 . 407–11 . 2000 . 10.1002/dvg.20221. 16900512 . 2002517 .