Jared H. Graham1 · Johannes C. M. Schlachetzki2 · Xiaoxu Yang3,4 · Martin W. Breuss11 Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora 80045-2581, CO, USA
2 Department of Cellular and Molecular Medicine, University of California San Diego, La Jolla 92093-0021, San Diego, CA, USA
3 Department of Neurosciences, University of California San Diego, La Jolla 92093-0021, San Diego, CA, USA
4 Rady Children’s Institute for Genomic Medicine, San Diego 92123, CA, USA
Abstract
Genomic mosaicism describes the phenomenon where some but not all cells within a tissue harbor unique genetic mutations. Traditionally, research focused on the impact of genomic mosaicism on clinical phenotype—motivated by its involvement in cancers and overgrowth syndromes. More recently, we increasingly shifted towards the plethora of neutral mosaic variants that can act as recorders of cellular lineage and environmental exposures. Here, we summarize the current state of the field of genomic mosaicism research with a special emphasis on our current understanding of this phenomenon in brain development and homeostasis. Although the field of genomic mosaicism has a rich history, technological advances in the last decade have changed our approaches and greatly improved our knowledge. We will provide current definitions and an overview of contemporary detection approaches for genomic mosaicism. Finally, we will discuss the impact and utility of genomic mosaicism.
Keywords
Genomics; Brain development; Brain homeostasis; Genomic mosaicism
