DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MBD4 may function to mediate the biological consequences of the methylation signal. In addition, MBD4 has protein sequence similarity to bacterial DNA repair enzymes and thus may have some function in DNA repair. Further, MBD4 gene mutations are detected in tumors with primary microsatellite-instability (MSI), a form of genomic instability associated with defective DNA mismatch repair, and MBD4 gene meets 4 of 5 criteria of a bona fide MIS target gene.
Base Excision Repair, organism-specific biosystem; Base excision repair, organism-specific biosystem; Base excision repair, conserved biosystem; Base-Excision Repair, AP Site Formation, organism-specific biosystem; Base-free sugar-phosphate removal via the single-nucleotide replacement pathway, organism-specific biosystem; Cleavage of the damaged pyrimidine, organism-specific biosystem; DNA Repair, organism-specific biosystem;
DNA binding; catalytic activity; endodeoxyribonuclease activity; hydrolase activity; protein binding; satellite DNA binding;