Human Genetics & Embryology

Unravelling X-Inactivation through Time: Implications of X-Linked Disorders in Humans

Abstract

Christalena Sofocleous, Anastasia Kanioura, Styliani Amenta, Stavroula Psoni and Helen Fryssira

X-Inactivation occurs early in embryogenesis, when one of the two chromosomes in each cell is subjected to specific modifications which lead to the formation of the transcriptional inactive heterochromatin known as Barr body. This mechanism was described 50 years ago by Mary Lyon. Scientists have been researching the phenomenon of X- inactivation ever since and multiple factors have been implicated in this multistep procedure. In our review we try to present how some of the mysteries of X- linked disorders in humans have been unraveled through time.