Elastin is the extracellular matrix protein in vertebrates that provides elastic recoil to blood
vessels, the lung, and skin. Because the elastin gene has undergone significant changes in
the primate lineage, modeling elastin diseases in non-human animals can be problematic.
To investigate the pathophysiology underlying a class of elastin gene mutations leading to
autosomal dominant cutis laxa, we engineered a cutis laxa mutation (single base deletion)
into the human elastin gene contained in a bacterial artificial chromosome. When expressed …