Heinz Arnheiter, M.D.

Scientist Emeritus

Basic Neuroscience Program


Building 35, Room 2A-201
35 Convent Drive
Bethesda, MD 20892-3706



Research Topics

Research Interests 1992-2011:

A detailed knowledge of the molecular mechanisms that govern the generation of distinct cell types from unspecified precursors will not only help us understand fundamental principles of normal ontogeny but also explain, and ultimately correct, instances where development has derailed and disease has resulted. It is in this context that in 1993, in collaboration with the Neal Copeland/Nancy Jenkins group at NCI, we isolated a novel basic-helix-loop-helix-zipper transcription factor gene that we called Mitf and whose mutations in mammals are associated with pigment cell disturbances, eye abnormalities, and hearing deficiencies (Waardenburg syndrome type II). My own group focused on cell lineage determination during the development of the eye where the bipotential optic neuroepithelium segregates into retina and retinal pigment epithelium, and of the neural crest where multipotential precursor cells give rise to MITF-positive melanoblasts and MITF-negative neuronal and glial cells of the peripheral nervous system. Work by many groups including ours revealed a considerable complexity by which MITF exerts its effects. In fact, the gene does not encode a single MITF protein but a family of distinct proteins generated by alternative promoter use, alternative splicing, and a host of post-translational modifications brought about by interactions with signaling pathways. Moreover, Mitf interacts with a number of other transcription factor genes in often surprising ways. For instance, both Mitf and Vsx2 mutations each severeley affect eye development, but their combination leads to a remarkable, though transient, improvement of eye development. In contrast, combinations of Mitf with Pax6 or Vax mutations lead to eye malformations that are more severe than those produced by either of the isolated mutations alone. These and other studies allowed us to determine molecular pathways that integrate many cell-intrinsic and cell-extrinsic factors that are crucial for the development and function of mammalian sensory organs.


Dr. Arnheiter received his M.D. degree from the University of Zürich, Switzerland. His initial work at its Institute for Virology focused on the family of Mx proteins which are intrinsic host factors serving as the first lines of defense against infections with influenza viruses. He joined the former Laboratory of Molecular Genetics at NINDS to work on intracellular protein trafficking and viral assembly. After a brief time in Zürich, he returned to the NINDS and in 1986 introduced transgenic technology to the institute. He later shifted from studies of host defense mechanisms to the development of the nervous system, using the transgenic and knock-in technologies as a major research tools to elucidate molecular mechanisms of neural crest development and patterning of the neuroepithelium in the eye and neural tube. He retired from Government service at the end of 2011 and now serves as co-editor of the journal Pigment Cell and Melanoma Research.

This page was last updated on August 31st, 2017