Researchers have created a detailed catalog of gene-isoform variations in the developing human brain, revealing significant implications for understanding and treating neurodevelopmental and psychiatric disorders. Their work has uncovered over 214,000 unique isoforms and highlighted the dynamic changes in isoform expression that occur during brain development. Credit: SciTechDaily.com
“We knew, based on our previous research, that isoform regulation is a key molecular feature for understanding brain development and genetic risk for neuropsychiatric disorders,” said Dr. Luis de la Torre-Ubieta of the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA, who co-led the study alongside Dr. Michael Gandal, an associate professor of psychiatry and genetics in the Perelman School of Medicine at the University of Pennsylvania.
“These tissue samples enabled a striking level of novel transcript discovery,” Gandal said. “And because these databases haven’t incorporated or represented these critical time points, we can dramatically expand our understanding of how genes are regulated in the context of human brain development.”The findings from the study have strong therapeutic implications and could be clinically actionable, the researchers said.
Reference: “Developmental isoform diversity in the human neocortex informs neuropsychiatric risk mechanisms” by Ashok Patowary, Pan Zhang, Connor Jops, Celine K. Vuong, Xinzhou Ge, Kangcheng Hou, Minsoo Kim, Naihua Gong, Michael Margolis, Daniel Vo, Xusheng Wang, Chunyu Liu, Bogdan Pasaniuc, Jingyi Jessica Li, Michael J. Gandal and Luis de la Torre-Ubieta, 24 May 2024,Other UCLA authors include Ashok Patowary, Pan Zhang, Celine K.