The jumonji (jmj) gene encodes a transcriptional repressor critical for normal cardiovascular development in the mouse and was subsequently shown to be important in development of various tissues. The jumonji protein (1246 aa) has a DNA-binding domain, ARID, and two conserved jmj domains (JMJD1 and 2). The jumonji 2 (JMJD2) proteins, of which several are known, are histone demethylases and are expressed at high level in a subset of human tumours; knockdown of JMJD2C (gene amplified in squamous cell carcinoma 1,GASC1) retards tumour cell growth in vitro. The H3K9-specific demethylase Jhdm2a (also known as Jmjd1a and Kdm3a) has an important role in nuclear hormone receptor-mediated gene activation and male germ-cell development, and regulates the expression of metabolic genes. Disruption of the Jhdm2a gene in mice results in obesity and hyperlipidemia.
Subjects: Medicine and Health — Chemistry.