Branco Weiss Fellow Since
2020
Research Category
Evolutionary and population genetics
Research Location
Department of Ecology & Evolution, University of Chicago, USA
Background
Centromeres are the sites on eukaryotic chromosomes where the segregation machinery attaches during cell division. Given this fundamental role in chromosome segregation, variation at human centromeres has been predicted to influence health outcomes for which chromosome mis-segregation is a frequent cause, such as infertility and cancer. However, human centromeres remain poorly characterized from a population genomic perspective, owing to their repetitive sequence content. This has prevented us from harnessing large population genomic databases to understand centromeres’ health effects.
Details of Research
Dr. Carl Veller will use novel methods to identify centromere variants in large population genomic databases that contain clinical health data. Based on this identification, he will use modern population genomic methods to discover the health effects of centromeric variation. Then, using long-read sequence assemblies of human centromeres, Dr. Veller will investigate the structural and molecular basis of centromeres’ effects on human health. In addition, using pedigrees within population genomic databases, he will test whether contravention of Mendel’s first law at centromeres underlies their effects on human fertility.
