Espinosa, Joaquin MGalbraith, Matthew DSullivan, Kelly D
Summary
Down syndrome (DS), the genetic condition caused by triplication of chromosome 21 (T21), is the most common chromosomal abnormality and a leading cause of intellectual and developmental disability. Although it is accepted that T21 causes genome-wide dysregulation of gene expression programs, little is known about how T21 affects gene expression across different tissues and organs, and how these effects contribute to the developmental and clinical hallmarks of DS. To address this knowledge gap, this proposal aims to generate a comprehensive atlas of tissue-specific gene expression changes caused by T21, matched to detailed metrics of organ development and architecture.