Sally A. Camper, Ph.D.
James V. Neel Professor and Chair
Department of Human Genetics
Professor, Department of Internal Medicine
Genetics of Birth Defects: neuroendocrine, auditory, and skeletal development. We use two main approaches in our birth defects research - sequencing patient DNA to identify novel disease genes and use of cell culture and animal models, especially the mouse, to understand the mechanism and pathophysiology of disease. Genetically engineered mice that model human disease are also valuable for testing therapeutic interventions. We are particularly interested in the genetic control of differentiation and cell proliferation that pertains to stem cells, progenitors and specialized cells. We study transcriptional regulation, cell signaling, and the interaction of these.
Fang Q, Indzhykulian AA, Mustapha M, Riordan GP, Dolan DF, Friedman TB, Belyantseva IA, Frolenkov GI, Camper SA, Bird JE. The 133-kDa N-terminal domain enables myosin 15 to maintain mechanotransducing stereocilia and is essential for hearing. Elife. 4; Aug 24, 2015.
Castinetti F, Brinkmeier ML, Mortensen AH, Vella KR, Gergics P, Brue T, Hollenberg AN, Gan L, Camper SA. ISL1 is necessary for maximal thyrotrope response to hypothyroidism. Mol Endocrinol. Aug 21, 2015: epub.
Brinkmeier ML, Geister KA, Jones M, Waqas M, Maillard I, Camper SA. The Histone Methyltransferase Gene Absent, Small, or Homeotic Discs-1 Like Is Required for Normal Hox Gene Expression and Fertility in Mice. Biol Reprod. Sep 2, 2015: epub.
Gergics P, Brinkmeier ML, Camper SA. Lhx4 deficiency: increased cyclin-dependent kinase inhibitor expression and pituitary hypoplasia. Mol Endocrinol. 29:597-612, 2015.
Mortensen AH, Schade V, Lamonerie T, Camper SA. Deletion of OTX2 in neural ectoderm delays anterior pituitary development. Hum Mol Genet. 24:939-53, 2015.