Msx genes in organogenesis and human disease">Msx genes in organogenesis and human disease

Abstract

Publisher Summary Msx genes are a highly conserved family of homeobox genes whose members have been identified in a wide variety of metazoans. The Msx gene family takes its name from the muscle segment homeobox (msh) gene of Drosophila, which functions in neurogenesis, myogenesis, and the dorsoventral patterning of the wing. A decade of investigation has revealed that Msx genes function in diverse animal groups in the control of cell identity, cell migration, and cell proliferation, and that they have causative roles in human genetic syndromes that affect the development of the skull, teeth, and limbs. Current research has converged on an association between Msx genes and the problem of how extracellular signals control the balance of proliferation and differentiation—and thus pattern. The chapter provides an overview of the evolution and function of the Msx gene family. It focuses on the role of one of the three mammalian Msx genes, Msx2, in human genetic disease and cranial development. On a molecular level, Msx proteins can form heterodimers with other Nk-class homeobox proteins, as well as with lim-homeodomain and paired-homeodomain proteins. Msx proteins can also interact with transcriptional co-factors that function in sumoylation and in the recruitment of co-repressors.