Evolution of the human X - a smart and sexy chromosome that controls speciation and development

Abstract

In humans, as in other mammals, sex is determined by an XX female/XY male chromosome system. Most attention has focused on the small, degenerate Y chromosome, which bears the male-dominant gene SRY. The X, in contrast, has been considered a well-behaved and immaculately conserved element that has hardly changed since the pre-mammal days when it was just another autosome pair. However, the X, uniquely in the genome, is present in two copies in females and only one in males. This has had dire consequences genetically on the evolution of its activity--and now it appears, on its gene content and/or the function of its genes. Here we will discuss the origin of the human X, and the evolution of dosage compensation and gene content, in the light of recent demonstrations that particular functions in sex and reproduction and cognition have accumulated on it.