Gene Symbol: Kdm5c
Description: lysine (K)-specific demethylase 5C
Alias: D930009K15Rik, Jarid1c, Smcx, mKIAA0234, lysine-specific demethylase 5C, histone demethylase JARID1C, jumonji, AT rich interactive domain 1C (Rbp2 like), jumonji/ARID domain-containing protein 1C, selected mouse cDNA on the X
Species: mouse
Products:     Kdm5c

Top Publications

  1. Kalantry S, Purushothaman S, Bowen R, Starmer J, Magnuson T. Evidence of Xist RNA-independent initiation of mouse imprinted X-chromosome inactivation. Nature. 2009;460:647-51 pubmed publisher
    ..Xp-linked gene silencing associated with mouse imprinted XCI, therefore, can initiate in the embryo independently of Xist RNA. ..
  2. Xu J, Burgoyne P, Arnold A. Sex differences in sex chromosome gene expression in mouse brain. Hum Mol Genet. 2002;11:1409-19 pubmed
    ..Six X-linked homologues (Usp9x, Ube1x, Smcx, Eif2s3x, Utx and Dbx) were also expressed in brain, and in adulthood all of these transcripts were expressed at ..
  3. Iwase S, Lan F, Bayliss P, de la Torre Ubieta L, Huarte M, Qi H, et al. The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases. Cell. 2007;128:1077-88 pubmed
    ..We show that the X-linked mental retardation (XLMR) gene SMCX (JARID1C), which encodes a JmjC-domain protein, reversed H3K4me3 to di- and mono- but not unmethylated products...
  4. Agulnik A, Mitchell M, Mattei M, Borsani G, Avner P, Lerner J, et al. A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human. Hum Mol Genet. 1994;3:879-84 pubmed
    A new gene, designated Smcx, was cloned from the mouse X chromosome by its homology to the Y located gene Smcy...
  5. Sheardown S, Norris D, Fisher A, Brockdorff N. The mouse Smcx gene exhibits developmental and tissue specific variation in degree of escape from X inactivation. Hum Mol Genet. 1996;5:1355-60 pubmed
    The Smcx gene is the first known example of a non-pseudoautosomal X-linked gene in mouse that normally escapes X chromosome inactivation. We have analysed the kinetics of escape at different stages of development, and in adult tissues...
  6. Carrel L, Hunt P, Willard H. Tissue and lineage-specific variation in inactive X chromosome expression of the murine Smcx gene. Hum Mol Genet. 1996;5:1361-6 pubmed
    ..patterns are established on the inactive X chromosome during development, we have studied the murine gene Smcx, which is expressed from both the active and inactive mouse X chromosomes...
  7. Jegalian K, Page D. A proposed path by which genes common to mammalian X and Y chromosomes evolve to become X inactivated. Nature. 1998;394:776-80 pubmed
    ..Three genes studied here, and other extant genes, appear to be intermediates. ZFX, RPS4X and SMCX were monitored for X inactivation in diverse species by assaying CpG-island methylation, which mirrors X ..
  8. Lingenfelter P, Adler D, Poslinski D, Thomas S, Elliott R, Chapman V, et al. Escape from X inactivation of Smcx is preceded by silencing during mouse development. Nat Genet. 1998;18:212-3 pubmed
  9. Li N, Carrel L. Escape from X chromosome inactivation is an intrinsic property of the Jarid1c locus. Proc Natl Acad Sci U S A. 2008;105:17055-60 pubmed publisher
    ..Two BACs carrying the mouse Jarid1c gene and adjacent X-inactivated transcripts were randomly integrated into mouse XX embryonic stem cells...

More Information


  1. Agulnik A, Longepied G, Ty M, Bishop C, Mitchell M. Mouse H-Y encoding Smcy gene and its X chromosomal homolog Smcx. Mamm Genome. 1999;10:926-9 pubmed
  2. Agulnik A, Mitchell M, Lerner J, Woods D, Bishop C. A mouse Y chromosome gene encoded by a region essential for spermatogenesis and expression of male-specific minor histocompatibility antigens. Hum Mol Genet. 1994;3:873-8 pubmed
    ..In addition, its human Y homologue, SMCY, is expressed in multiple tissues and maps to the same Yq deletion interval as the human H-Y antigen controlling locus, HY. ..
  3. Blair H, Uwechue I, Barsh G, Rowe P, Boyd Y. An integrated genetic and man-mouse comparative map of the DXHXS674-Pdha1 region of the mouse X chromosome. Genomics. 1998;48:128-31 pubmed
    ..The order of genes and evolutionary breakpoints (EB) is defined as centromere-(EB)-(DXHXS674, DXHXS679)-Smcx-(EB)-Oa1-(EB)-Phex (3'-->5')-Pdha1-telomere...
  4. Agulnik A, Bishop C, Lerner J, Agulnik S, Solovyev V. Analysis of mutation rates in the SMCY/SMCX genes shows that mammalian evolution is male driven. Mamm Genome. 1997;8:134-8 pubmed
    ..In order to address this problem, we have analyzed the rates of evolution in the homologous X-Y common SMCX/SMCY genes from three different species--mouse, human, and horse...
  5. Laval S, Blair H, Mitchell M, Boyd Y. Smcx lies distal to DXHX674 and DXHX679 on the mouse X chromosome. Mamm Genome. 1996;7:552 pubmed
  6. Tsuchiya K, Willard H. Chromosomal domains and escape from X inactivation: comparative X inactivation analysis in mouse and human. Mamm Genome. 2000;11:849-54 pubmed
    ..In contrast to human, only the mouse Smcx gene has been found to escape inactivation in this region thus far, despite a highly conserved physical map between ..
  7. Outchkourov N, MuiƱo J, Kaufmann K, van Ijcken W, Groot Koerkamp M, van Leenen D, et al. Balancing of histone H3K4 methylation states by the Kdm5c/SMCX histone demethylase modulates promoter and enhancer function. Cell Rep. 2013;3:1071-9 pubmed publisher
    ..Here, we show that the Kdm5c/Jarid1c/SMCX member of the Kdm5 family of H3K4 demethylases can be recruited to both enhancer and promoter elements in ..
  8. Sandstedt S, Tucker P. Inefficient purifying selection: the mammalian Y chromosome in the rodent genus Mus. Mamm Genome. 2006;17:14-21 pubmed
    ..Six hundred fifty-seven base pairs of coding sequence of Jarid1d (Smcy) on the Y chromosome and Jarid1c (Smcx) on the X chromosome were sequenced in 13 rodent taxa...
  9. Scott D, Ehrmann I, Ellis P, Bishop C, Agulnik A, Simpson E, et al. Identification of a mouse male-specific transplantation antigen, H-Y. Nature. 1995;376:695-8 pubmed
    ..We have recently identified Smcy, a ubiquitously expressed gene, in this region and its X-chromosome homologue, Smcx. Here we report that Smcy encodes an H-YKk epitope that is defined by the octamer peptide TENSGKDI: no similar ..
  10. Rondinelli B, Rosano D, Antonini E, Frenquelli M, Montanini L, Huang D, et al. Histone demethylase JARID1C inactivation triggers genomic instability in sporadic renal cancer. J Clin Invest. 2015;125:4625-37 pubmed publisher
    ..For example, the histone demethylase JARID1C is frequently inactivated in patients with clear cell renal cell carcinoma (ccRCC); however, it is ..
  11. Zhang L, Wang J, Pan Y, Jin J, Sang J, Huang P, et al. Expression of histone H3 lysine 4 methylation and its demethylases in the developing mouse testis. Cell Tissue Res. 2014;358:875-83 pubmed publisher
    ..The present study was designed to detect the expression of H3K4me1/2/3 and its demethylases LSD1, RBP2 and SMCX in 21-, 40- and 60-day-old mouse testes by using immunohistochemistry, quantitative real-time polymerase chain ..
  12. Shao G, Chen J, Zhang L, Huang P, Lu H, Jin J, et al. Dynamic patterns of histone H3 lysine 4 methyltransferases and demethylases during mouse preimplantation development. In Vitro Cell Dev Biol Anim. 2014;50:603-13 pubmed publisher
    ..of H3K4me and its key regulators (Ash1l, Ash2l, Kmt2a, Kmt2b, Kmt2c, Setd1a, Setd7, Kdm1a, Kdm1b, Kdm5a, Kdm5b, Kdm5c, and Kdm5d) in mouse oocytes and preimplantation embryos...
  13. Dahl J, Jung I, Aanes H, Greggains G, Manaf A, Lerdrup M, et al. Broad histone H3K4me3 domains in mouse oocytes modulate maternal-to-zygotic transition. Nature. 2016;537:548-552 pubmed publisher
    ..Our results provide insight into the onset of the developmental program in mouse embryos and demonstrate a role for broad H3K4me3 domains in MZT. ..
  14. Sandstedt S, Tucker P. Evolutionary strata on the mouse X chromosome correspond to strata on the human X chromosome. Genome Res. 2004;14:267-72 pubmed
    ..An analysis of smaller fragments of Smcy, Smcx, Zfy, and Zfx from seven species of Mus confirmed that the strata in Mus musculus were representative of the genus ..
  15. Tsuchiya K, Greally J, Yi Y, Noel K, Truong J, Disteche C. Comparative sequence and x-inactivation analyses of a domain of escape in human xp11.2 and the conserved segment in mouse. Genome Res. 2004;14:1275-84 pubmed
    ..Despite highly conserved gene content and order between the two species, Smcx is the only mouse gene from the conserved segment that escapes inactivation...
  16. Filippova G, Cheng M, Moore J, Truong J, Hu Y, Nguyen D, et al. Boundaries between chromosomal domains of X inactivation and escape bind CTCF and lack CpG methylation during early development. Dev Cell. 2005;8:31-42 pubmed
    ..We report that the 5' end of Jarid1c, a mouse escape gene adjacent to an inactivated gene, binds CTCF, displays high levels of histone H3 acetylation, ..
  17. Sultana R, Adler D, Edelhoff S, Carrel L, Lee K, Chapman V, et al. The mouse Sb1.8 gene located at the distal end of the X chromosome is subject to X inactivation. Hum Mol Genet. 1995;4:257-63 pubmed
    ..21-p11.22 in human and band XF in mouse. In situ hybridization also showed that the Smcx (Xe169) gene maps near Sb1.8 in band F. The Sb1...
  18. Wei G, Deng X, Agarwal S, Iwase S, Disteche C, Xu J. Patient Mutations of the Intellectual Disability Gene KDM5C Downregulate Netrin G2 and Suppress Neurite Growth in Neuro2a Cells. J Mol Neurosci. 2016;60:33-45 pubmed publisher
    The X-linked lysine (K)-specific demethylase 5C (KDM5C) gene plays an important role in brain development and behavior. It encodes a histone demethylase that is involved in gene regulation in neuronal differentiation and morphogenesis...
  19. Wu J, Salido E, Yen P, Mohandas T, Heng H, Tsui L, et al. The murine Xe169 gene escapes X-inactivation like its human homologue. Nat Genet. 1994;7:491-6 pubmed
    ..In vitro and in vivo studies show that Xe169 is expressed from both the active and the inactive X chromosomes. Xe169 is the first cloned non-pseudoautosomal gene that escapes X-inactivation in mice. ..
  20. Vashishtha M, Ng C, Yildirim F, Gipson T, Kratter I, Bodai L, et al. Targeting H3K4 trimethylation in Huntington disease. Proc Natl Acad Sci U S A. 2013;110:E3027-36 pubmed publisher
    ..Reducing the levels of the H3K4 demethylase SMCX/Jarid1c in primary neurons reversed down-regulation of key neuronal genes caused by mutant Huntingtin expression...
  21. Albert M, Schmitz S, Kooistra S, Malatesta M, Morales Torres C, Rekling J, et al. The histone demethylase Jarid1b ensures faithful mouse development by protecting developmental genes from aberrant H3K4me3. PLoS Genet. 2013;9:e1003461 pubmed publisher
    ..Taken together, these results suggest that Jarid1b regulates mouse development by protecting developmental genes from inappropriate acquisition of active histone modifications. ..
  22. Mugford J, Yee D, Magnuson T. Failure of extra-embryonic progenitor maintenance in the absence of dosage compensation. Development. 2012;139:2130-8 pubmed publisher
    ..Conversely, unlike the epiblast, in which XCI is not required for progenitor cell maintenance, we demonstrate that dosage compensation is indispensable for the maintenance of trophoblast progenitors. ..
  23. Wolstenholme J, Rissman E, Bekiranov S. Sexual differentiation in the developing mouse brain: contributions of sex chromosome genes. Genes Brain Behav. 2013;12:166-80 pubmed publisher
    ..Our results also indicate an interaction between gonadal development and sex chromosome number that could further elucidate the role of sex chromosome genes and hormones in the sexual differentiation of behavior. ..
  24. Lee K, Mattiske T, Kitamura K, Gecz J, Shoubridge C. Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation. Hum Mol Genet. 2014;23:1084-94 pubmed publisher
    ..It is yet to be determined what effect these mutations have on ARX protein in affected males in the human setting. ..
  25. DiTacchio L, Le H, Vollmers C, Hatori M, Witcher M, Secombe J, et al. Histone lysine demethylase JARID1a activates CLOCK-BMAL1 and influences the circadian clock. Science. 2011;333:1881-5 pubmed publisher
    ..Drosophila lines with reduced expression of the Jarid1a homolog, lid, had lowered Per expression and similarly altered circadian rhythms. JARID1a thus has a nonredundant role in circadian oscillator function. ..
  26. Deuve J, Bonnet Garnier A, Beaujean N, Avner P, Morey C. Antagonist Xist and Tsix co-transcription during mouse oogenesis and maternal Xist expression during pre-implantation development calls into question the nature of the maternal imprint on the X chromosome. Epigenetics. 2015;10:931-42 pubmed publisher
  27. Williams L, Kalantry S, Starmer J, Magnuson T. Transcription precedes loss of Xist coating and depletion of H3K27me3 during X-chromosome reprogramming in the mouse inner cell mass. Development. 2011;138:2049-57 pubmed publisher
  28. Boukhaled G, Cordeiro B, Deblois G, Dimitrov V, Bailey S, Holowka T, et al. The Transcriptional Repressor Polycomb Group Factor 6, PCGF6, Negatively Regulates Dendritic Cell Activation and Promotes Quiescence. Cell Rep. 2016;16:1829-37 pubmed publisher
    ..We show that PCGF6 associates with the H3K4me3 demethylase JARID1c, and together, they negatively regulate H3K4me3 levels in DCs...
  29. Kim T, Shin S, Janknecht R. Repression of Smad3 activity by histone demethylase SMCX/JARID1C. Biochem Biophys Res Commun. 2008;366:563-7 pubmed
    SMCX/JARID1C was recently shown to be a histone H3 lysine 4 (H3K4) demethylase. Here, we have identified an SMCX isoform that predominantly resides in the cytoplasm, but still efficiently demethylates trimethylated H3K4...
  30. Poeta L, Fusco F, Drongitis D, Shoubridge C, Manganelli G, Filosa S, et al. A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX. Am J Hum Genet. 2013;92:114-25 pubmed publisher
    ..We show that lysine-specific demethylase 5C (KDM5C), a gene known to be mutated in XLID-affected children and involved in chromatin remodeling, is directly regulated ..
  31. Xu J, Deng X, Disteche C. Sex-specific expression of the X-linked histone demethylase gene Jarid1c in brain. PLoS ONE. 2008;3:e2553 pubmed publisher
    b>Jarid1c, an X-linked gene coding for a histone demethylase, plays an important role in brain development and function. Notably, JARID1C mutations cause mental retardation and increased aggression in humans...
  32. Natale D, Hemberger M, Hughes M, Cross J. Activin promotes differentiation of cultured mouse trophoblast stem cells towards a labyrinth cell fate. Dev Biol. 2009;335:120-31 pubmed publisher
    ..These results suggest that Activin rather than TGF-beta (or Nodal) acts directly on TS cells influencing both TS cell maintenance and cell fate, depending on whether the cells are also exposed to FGF4. ..