Abstract

The most defining biological attribute of Homo sapiens is its enormous brain size and accompanying cognitive prowess. How this was achieved by means of genetic changes over the course of human evolution has fascinated biologists and the general public alike. Recent studies have shown that genes controlling brain development — notably those implicated in microcephaly (a congenital defect that is characterized by severely reduced brain size) — are favoured targets of natural selection during human evolution. We propose that genes that regulate brain size during development, such as microcephaly genes, are chief contributors in driving the evolutionary enlargement of the human brain. Based on the synthesis of recent studies, we propose a general methodological template for the genetic analysis of human evolution.

Author affiliations

1. Sandra Gilbert and Bruce Lahn are at the Howard Hughes Medical Institute, Department of Human Genetics, University of Chicago, Illinois 60637, USA.
2. William Dobyns is at the Departments of Human Genetics, Neurology, and Pediatrics, University of Chicago, USA.

Correspondence to: Bruce T. Lahn¹ Email: blahn@bsd.uchicago.edu

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