Biology

Dr. Man Mohan
Department of Biochemistry and Molecular Cell Biology, Shanghai Jiao Tong University School of Medicine, Shanghai, China

Abstract:

My laboratory focuses on elucidating the functions of DYRK1A in order to understand its contribution to DYRK1A syndrome and Down Syndrome. DYRK1A is a haploinsufficient gene located in Down Syndrome Critical Region (DSCR) and codes for a dual specificity threonine/serine kinase. Heterozygous mutations in DYRK1A cause DYRK1A syndrome, a rare genetic disease in which patients exhibit microcephaly, neurological problems and growth deficits. In Down syndrome, overexpression of DYRK1A is proposed to cause behavioural phenotypes. We are taking a variety of approaches, including proteomics and ChIP-sequencing to unravel the cellular functions of DYRK1A. We have recently shown that DYRK1A regulates expression of genes by enhancer regulation. Further, we have found that DYRK1A plays a role in activation of mTORC1 pathway. I will discuss how low mTORC1 activity could be responsible for microcephaly observed in patients suffering from DYRK1A syndrome.