Our laboratory has broad interests in the field of human genetics, ranging from our past work on the molecular genetics of hemophilia, through gene discovery for a variety of inherited disorders, including Menkes disease (in collaboration with Seymour Packman), Acrodermatitis Enteropathica, and Hallervorden-Spatz disease (in collaboration with Susan Hayflick), in which imbalances of copper, zinc and iron, respectively, lead to morbidity and death. Combined with discovery of genes in mouse mutants and the generation of mouse models for the human disease, our research has led to a deeper understanding of heavy metal metabolism and has provided more accurate genetic diagnosis and prognosis for families.
Currently our lab is engaged in two unusual projects. The first project concerns understanding the genetic basis for absolute pitch (AP) perception, a rare cognitive trait in which the pitch of a tone or sound can be named without any reference tone. While we hypothesize that AP has a large genetic component, exposure to music in early childhood is also key. By identifying subjects and their families through our study website (above), we have recruited individuals with AP and their family members for a large genetic mapping study, which is in progress. We have also analyzed the perceptual data and discovered two types of perceptual distortions, a shift in the “sharp” direction as subjects age, and a “perceptual magnet” centered on the pitch A. A second project involves the use of DNA haplotypes to infer ancestry, an endeavor known as genetic genealogy.
Selected Publications
Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J and Hayflick SJ. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nature Genet 28:345-349, 2001.
Wang K, Zhou B, Kuo Y-M, Zemansky J, and Gitschier J. A novel member of a zinc transporter family is defective in acrodermatitis enteropathica. Am J Hum Genet 71:66-73, 2002.
Kuo Y-M, Hayflick SJ, and Gitschier J. Deprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegeneration. J Inher Metab Disease 30:310-317, 2007.
Athos EA, Levinson B, Kistler A, Zemansky J, Bostrom A, Freimer N, and Gitschier J. Dichotomy and perceptual distortions in absolute pitch ability. PNAS USA 104:14795-14800, 2007.
Gitschier J. PLoS Genetics Interviews
information last updated October 2008
Featured Paper
Gitschier Lab Dichotomy and perceptual distortions in absolute pitch ability. PNAS USA 104:14795-14800, 2007 download the paper
Featured Paper
Gitschier Lab
A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nature Genet 28:345-349, 2001 download the paper
Biomedical Sciences (BMS) Graduate Program
