IISER Pune
INDIAN INSTITUTE OF SCIENCE EDUCATION AND RESEARCH (IISER) PUNE
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An Autonomous Institution, Ministry of Human Resource Development, Govt. of India
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Seminars and Colloquia

Biology

Functional analysis of DYRK1A, and its implications in Down Syndrome and DYRK1A Syndrome 
 
Tue, Jul 30, 2019,   11:00 AM to 12:00 PM at Seminar Room 34, 2nd Floor, Main Building

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.

 

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