Mass Spectrometry‐Based Proteomics Reveals a Regulatory Role for DYRK1A in DNA Damage Repair
Abstract
Down syndrome, the most common genetic cause of intellectual disability, results from trisomic chromosome 21. A section of chromosome 21 containing 33 genes, known as the Down syndrome critical region, plays a crucial role in producing the cognitive defects characteristic of Down syndrome. The dual‐specificity tyrosine phosphorylation regulated kinase 1A (DYRK1A), located within the Down syndrome critical region, is necessary for normal brain development from flies to humans. Neurological defects in mice arise from an additional DYRK1A gene copy, while heterozygous loss of function causes microcephaly, facial dysmorphia, impaired motor function and behavioral problems in humans, demonstrating the sensitivity of DYRK1A function to gene dosage. However, the molecular mechanisms underlying these phenotypic changes are not fully understood. Defining the protein interacting partners of DYRK1A and subsequent function of these relationships is crucial for understanding the implication of trisomic chromosome 21 on human health.
Document Details
- Document Type
- Pub Defense Publication
- Publication Date
- Apr 01, 2018
- Source ID
- 10.1096/fasebj.2018.32.1_supplement.786.5
Entities
People
- Chris Ebmeier
- Steven E. Guard
- William M. Old
- Zach Poss
Organizations
- Defense Advanced Research Projects Agency