Gene implicated in lens development identified

November 8, 2006

A gene that controls the development of the eye's lens, Six3, has been discovered by researchers at St Jude Children's Research Hospital, Memphis, USA.

A gene that controls the development of the eye's lens, Six3, has been discovered by researchers at St Jude Children's Research Hospital, Memphis, USA.

The gene, discovered in mouse models, is one of the earliest critical regulators that control development of the lens. The researchers found that Six3 normally exerts its effect by directly activating Pax6, a gene considered to be the master regulator of the eye, but mutations of Six3 could disrupt lens development.

Investigators previously discovered that mutations in Six3 have been identified in patients with holoprosencephaly, a disease that can cause the cerebrum to fail to divide into two lobes.

It is thought that this new information may help in forming strategies to prevent or treat disease caused by disruption of Six3 function.