Phenotypic and Evolutionary Consequences of Deletion, Duplication, and Triplication at 16p11.2

Abstract

The advent of whole-genome sequencing allowed for a better understanding of the extent to which duplicated segments in DNA contribute to human phenotypes; complex diseases such as autism, schizophrenia, and intellectual disability; and primate evolution. The 16p11.2 locus (encompassing ~29 genes on the p-arm of chromosome 16) in particular has drawn attention given the consistent association of deletion and duplication at this region with mirror cognitive and metabolic phenotypes — autism and schizophrenia, overweight and underweight, macrocephaly and microcephaly — as well as the observations that this is one region where humans may differ from non-human primates, Neanderthals, and Denisovans; and that it may be possible to target this locus by gene editing (e.g., CRISPR) to modify cognitive and physical phenotypes.

Keywords: Autism, CNVs, Copy number variants, CRISPR, Neanderthal, Schizophrenia