Title: Transcriptional consequences of trisomy 21 on neural development
Citation: José Martinez, Nikunj Makwana, Isabella Sorci, Carissa Sirois, Yathindar Giffin-Rao and Anita Bhattacharyya International Society for Stem Cell Research Annual Meeting, June 2023.
Abstract: Structural pathologies, such as brain, are present at birth in Down syndrome (trisomy 21), reflecting embryonic origins that are generally associated with smaller organs or reduced growth. A fundamental question is how an extra copy of human chromosome 21 translates into the organ-specific pathologies that characterize individuals with Down syndrome. We performed bulk transcriptome analysis of induced pluripotent stem cells (iPSCs) along neural differentiation at Day 6 , Day 10, and Day 17. Results reveal less than 3% of the gene expression changes included upregulated chromosome 21-encoded genes. Hierarchical clustering indicates both genes whose expression is downregulated by trisomy 21 and genes whose expression is upregulated by trisomy 21. In addition, we identified genes that are expressed earlier in trisomy 21 than controls, suggesting heterochrony – alterations in timing – of neural development. Resource: IPSC core
About the Lab: Anita Bhattacharyya’s lab examines how brain development is altered in developmental disorders characterized by intellectual impairment. The cerebral cortex is the most complex area of the brain and is responsible for functions unique to humans, such as language and abstract thought. Problems in any of the crucial cerebral cortex formation steps can lead to intellectual impairment.
Investigator: Anita Bhattacharyya, PhD