Gene Symbol: Mbd4
Description: methyl-CpG binding domain 4 DNA glycosylase
Alias: methyl-CpG-binding domain protein 4
Species: rat
Products:     Mbd4

Top Publications

  1. Hendrich B, Bird A. Identification and characterization of a family of mammalian methyl-CpG binding proteins. Mol Cell Biol. 1998;18:6538-47 pubmed
    ..We describe here three novel human and mouse proteins (MBD2, MBD3, and MBD4) that contain the methyl-CpG binding domain. MBD2 and MBD4 bind specifically to methylated DNA in vitro...
  2. Yin J, Shi Y, Zuo J, Tang W, Wang L, Wang X, et al. Methyl-CpG binding domain 4 tagging polymorphisms and esophageal cancer risk in a Chinese population. Eur J Cancer Prev. 2015;24:100-5 pubmed publisher
    ..We conducted a hospital-based case-control study to evaluate the association between methyl-CpG binding domain 4 (MBD4) rs3138373 A>G, rs2005618 T>C, and rs3138355 G>A tag single nucleotide polymorphisms and the risk of ..
  3. Millar C, Guy J, Sansom O, Selfridge J, MacDougall E, Hendrich B, et al. Enhanced CpG mutability and tumorigenesis in MBD4-deficient mice. Science. 2002;297:403-5 pubmed
    The mammalian protein MBD4 contains a methyl-CpG binding domain and can enzymatically remove thymine (T) or uracil (U) from a mismatched CpG site in vitro...
  4. Cortellino S, Turner D, Masciullo V, Schepis F, Albino D, Daniel R, et al. The base excision repair enzyme MED1 mediates DNA damage response to antitumor drugs and is associated with mismatch repair system integrity. Proc Natl Acad Sci U S A. 2003;100:15071-6 pubmed
    ..MMR also modulates sensitivity to other antitumor drugs. The base excision repair (BER) enzyme MED1 (also known as MBD4) interacts with the MMR protein MLH1. MED1 was found to exhibit thymine glycosylase activity on O6-meG:T mismatches...
  5. Xi Y, Formentini A, Nakajima G, Kornmann M, Ju J. Validation of biomarkers associated with 5-fluorouracil and thymidylate synthase in colorectal cancer. Oncol Rep. 2008;19:257-62 pubmed
    ..TS), SET and MYND domain containing 3 (SMYD3), Dickkopf homolog 4, and methyl-CpG binding domain protein 4 (MBD4)...
  6. Song J, Maeng E, Cao Z, Kim S, Nam S, Lee J, et al. The Glu346Lys polymorphism and frameshift mutations of the Methyl-CpG Binding Domain 4 gene in gastrointestinal cancer. Neoplasma. 2009;56:343-7 pubmed
    b>MBD4 (Methyl-CpG Binding Domain 4) is a human DNA repair protein that may be involved in DNA mismatch repair. The polymorphisms and frameshift mutations in MBD4 may influence cancer susceptibility and the development of cancer...
  7. Tang W, Morey L, Cheung Y, Birch L, Prins G, Ho S. Neonatal exposure to estradiol/bisphenol A alters promoter methylation and expression of Nsbp1 and Hpcal1 genes and transcriptional programs of Dnmt3a/b and Mbd2/4 in the rat prostate gland throughout life. Endocrinology. 2012;153:42-55 pubmed publisher
    ..We speculate that the distinctly different fate of early-life epigenetic marks during adulthood reflects the complex nature of lifelong editing of early-life epigenetic reprogramming. ..
  8. Hao B, Wang H, Zhou K, Li Y, Chen X, Zhou G, et al. Identification of genetic variants in base excision repair pathway and their associations with risk of esophageal squamous cell carcinoma. Cancer Res. 2004;64:4378-84 pubmed
    ..In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala and MBD4 Glu346Lys) and others in noncoding regions (LIG3 A3704G and XRCC1 T-77C), remained as significant predictors for ..
  9. Huang C, Huang P, Chen C, Wan L, Tsai C, Liu S, et al. MBD4 gene is associated with rheumatoid arthritis in Chinese patients in Taiwan. Rheumatol Int. 2012;32:117-22 pubmed publisher
    This study examines whether or not MBD4 polymorphism is a marker for rheumatoid arthritis (RA) susceptibility or severity for Chinese patients in Taiwan...

More Information


  1. Buck Koehntop B, Defossez P. On how mammalian transcription factors recognize methylated DNA. Epigenetics. 2013;8:131-7 pubmed publisher
    ..These fresh insights have consequences for the analysis of the many other zinc finger proteins present in the genome, and for the biology of methyl-CpG binding zinc finger proteins. ..
  2. Sansom O, Zabkiewicz J, Bishop S, Guy J, Bird A, Clarke A. MBD4 deficiency reduces the apoptotic response to DNA-damaging agents in the murine small intestine. Oncogene. 2003;22:7130-6 pubmed
    b>MBD4 was originally identified through its methyl binding domain, but has more recently been characterized as a thymine DNA glycosylase that interacts with the mismatch repair (MMR) protein MLH1...
  3. Miao R, Gu H, Liu H, Hu Z, Jin G, Wang H, et al. Tagging single nucleotide polymorphisms in MBD4 are associated with risk of lung cancer in a Chinese population. Lung Cancer. 2008;62:281-6 pubmed publisher
    b>MBD4 (methyl-CpG binding domain protein 4) was identified as a methyl-CpG binding protein and plays an important role in DNA methylation and carcinogenesis...
  4. Allione A, Guarrera S, Russo A, Ricceri F, Purohit R, Pagnani A, et al. Inter-individual variation in nucleotide excision repair pathway is modulated by non-synonymous polymorphisms in ERCC4 and MBD4 genes. Mutat Res. 2013;751-752:49-54 pubmed publisher
    ..006) and significantly higher in subjects with the variant allele of MBD4 rs2005618 SNP (p = 0.008), in linkage disequilibrium (r(2) = 0.908) with rs10342 nsSNP...
  5. Bader S, Walker M, Hendrich B, Bird A, Bird C, Hooper M, et al. Somatic frameshift mutations in the MBD4 gene of sporadic colon cancers with mismatch repair deficiency. Oncogene. 1999;18:8044-7 pubmed
    ..We describe here frameshift mutations affecting the gene for the methyl-CpG binding thymine glycosylase, MBD4, in over 40% of microsatellite unstable sporadic colon cancers...
  6. Ruddock D Cruz N, Xue J, Wilson K, Heffernan C, Prashadkumar S, Cooney M, et al. Dynamic changes in the localization of five members of the methyl binding domain (MBD) gene family during murine and bovine preimplantation embryo development. Mol Reprod Dev. 2008;75:48-59 pubmed
    ..Four MBD proteins (MeCP2 and MBDs 1-3) are linked to transcriptional repression and one (MBD4), to DNA repair...
  7. Cheng J, Zhang H, Zhuang C, Liu R. Peptidylarginine deiminase type 4 and methyl-CpG binding domain 4 polymorphisms in Chinese patients with rheumatoid arthritis. J Rheumatol. 2012;39:1159-65 pubmed publisher
    Peptidylarginine deiminase type 4 (PADI4) and methyl-CpG binding domain 4 (MBD4) are closely related with rheumatoid arthritis (RA). We hypothesized that PADI4 and MBD4 polymorphisms may contribute to RA susceptibility...