Ontology highlight
ABSTRACT:
ORGANISM(S): Homo sapiens
SUBMITTER: bilian jin
PROVIDER: E-GEOD-9499 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Jin Bilian B Tao Qian Q Peng Jinrong J Soo Hui Meng HM Wu Wei W Ying Jianming J Fields C Robert CR Delmas Amber L AL Liu Xuefeng X Qiu Jingxin J Robertson Keith D KD
Human molecular genetics 20071120 5
Genome-wide DNA methylation patterns are established and maintained by the coordinated action of three DNA methyltransferases (DNMTs), DNMT1, DNMT3A and DNMT3B. DNMT3B hypomorphic germline mutations are responsible for two-thirds of immunodeficiency, centromere instability, facial anomalies (ICF) syndrome cases, a rare recessive disease characterized by immune defects, instability of pericentromeric satellite 2-containing heterochromatin, facial abnormalities and mental retardation. The molecula ...[more]