Can a few non-coding mutations make a human brain?
The recent finding that the human version of a neurodevelopmental enhancer of the Wnt receptor Frizzled 8 (FZD8) gene alters neural progenitor cell cycle timing and brain size is a step forward to understanding human brain evolution. The human brain is distinctive in terms of its cognitive abilities as well as its susceptibility to neurological disease. Identifying which of the millions of genomic changes that occurred during human evolution led to these and other uniquely human traits is extremely challenging. Recent studies have demonstrated that many of the fastest evolving regions of the human genome function as gene regulatory enhancers during embryonic development and that the human-specific mutations in them might alter expression patterns. However, elucidating molecular and cellular effects of sequence or expression pattern changes is a major obstacle to discovering the genetic bases of the evolution of our species. There is much work to do before human-specific genetic and genomic changes are linked to complex human traits.
Instituto de Investigaciones en Ingeniería Genética y Biología Molecular (INGEBI), Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Buenos Aires, Argentina.
Lucía F
LF
Franchini
Gladstone Institutes, San Francisco, CA, USA.|Institute for Human Genetics, Department of Epidemiology & Biostatistics, University of California, San Francisco, CA, USA.
Katherine S
KS
Pollard
D000818:Animals; D001483:Base Sequence; D005075:Biological Evolution; D001921:Brain / Q000378:metabolism*; D004742:Enhancer Elements, Genetic; D020022:Genetic Predisposition to Disease; D049810:Genetic Speciation; D015894:Genome, Human; D006801:Humans; D009154:Mutation / Q000502:physiology*; D009422:Nervous System Diseases / Q000235:genetics; D019655:Quantitative Trait, Heritable
development; evolution; gene regulation; neuroscience