Xiajun Li, PhDAssociate Professor

Genomic imprinting is absolutely essential for mammalian development. Dysregulation of genomic imprinting causes a variety of human diseases including cancer, diabetes, cardiovascular diseases and neurological disorders. Dr. Li’s previous study has shown Zfp57as a master regulator in genomic imprinting. His lab is interested in modeling major human diseases by utilizing Zfp57mutant mice. Zfp57is a maternal-zygotic effect gene and loss of Zfp57 causes maternal-zygotic embryonic lethality, the first one identified in mammals. His lab demonstrated that both maternal and zygotic Zfp57modulate NOTCH signaling in cardiac development, with partially redundant functions.Recently, they have proved that ZFP57 maintains parent-of-origin-dependent mono-allelic expression of most known imprinted genes and dictates their allelic expression switch, together with their collaborators. His current research centers on NOTCH signalingand genomic imprinting in cardiac and neural development as well as related heart and brain diseases including dilated cardiomyopathy (DCM) and Alzheimer’s disease.

Another major research interest of his lab is epigenetic regulation, in particular genomic imprinting, in ES and iPS cells. Indeed, Zfp57is critical for the maintenance of genomic imprinting in these stem cells, whereasntES andiPS cells are promising candidates for cell-based therapies for various degenerative diseases including Alzheimer’s disease. Genomic imprinting iscommonlydysregulatedin reprogrammed ntES andiPS cells,and loss of genomic imprinting may cause cancer and otherhuman diseases.Therefore,his lab is interested inidentifying possiblestrategies for derivation of iPS cells that are suitable for future therapeutic applications.