James Sikela

James M. Sikela is currently a Professor in the Department of Biochemistry & Molecular Genetics and Human Medical Genetics & Genomics and Neuroscience Programs at the University of Colorado School of Medicine. He is also a Faculty Fellow at the Institute for Behavioral Genetics in Boulder Colorado. He received his Ph.D. in molecular biology at Case Western Reserve University before doing postdoctoral work at Stanford and the University of Colorado where he studied gene expression in the mammalian brain. He has made several innovative contributions to the Human Genome project, including helping to pioneer the sequence-based gene identification strategy now known as EST sequencing, and his development of the rapid gene mapping method that was used to make the most comprehensive human gene maps in the late 1990’s. His current research is focused on human evolutionary genomics and the study of lineage-specific gene copy number variation among human and other primate species. In this regard, his team was the first to use array-based comparative genomic hybridization (arrayCGH) to carry out genome-wide and gene-based surveys of copy number variation across human and non-human primates, currently encompassing over 60 million years of human and primate evolution. He is particularly interested in identifying the genomic changes that contribute to lineage-specific traits in these species. Toward this end, his lab was first to identify the striking human lineage-specific copy number increase of DUF1220 protein domains, which show the greatest human lineage-specific increase in copy number of any coding region in the genome. Recently his lab has shown that DUF1220 copy number is associated in a dose-dependent manner with brain size variation (both evolutionarily and within the human population), cognitive aptitude and autism and schizophrenia severity.