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. Pituitary hormone deficiency diseases and adenomas are both common in humans. Many combined hormone deficiencies are caused by transcription factor defects. Lesions in the homeodomain transcriprion factor gene PROP1 are most prevalent cause of multiple pituitary hormone deficiencies, and defects in PITX2 cause Rieger syndrome, which can include growth hormone deficiency. We study Prop1, Pitx2, and other pituitary transcription factor genes using genetically engineered mice. About half the cases of congenital deafness are thought to be genetic. We are studying the function of the motor myosin gene Myo15 in sensory hair cell development and function. Environmental factors such as thyroid hormone deficiency can cause profound deafness if untreated, although genomic effects influence the susceptibility to hypothyroidism induced hearing impairment. We are identifying genes that protect against this form of deafness. Skeletal dysplasias are a highly heterogeneous group of birth defects, and the etiology is unknown for many cases. We are pursuing the genetics, pathophysiology and therapy for skeletal dysplasia in mouse models.
Camper SA. Beta-Catenin stimulates pituitary stem cells to form aggressive tumors. Proc Natl Acad Sci U S A. 2011 Jun 30. [Epub ahead of print]
Castinetti F, Davis SW, Brue T, Camper SA. Pituitary Stem Cell Update and Potential Implications for Treating Hypopituitarism. Endocr Rev. 2011 Apr 14. [Epub ahead of print]
Davis SW, Mortensen AH, Camper SA. Birthdating Studies Reshape Models for Pituitary Gland Cell Specification. Dev Biol. 352: 215-227, 2011.
Bjork BC, Fujiwara Y, Davis SW, Qiu H, Saunders TL, Sandy P, Orkin S, Camper SA, Beier DR. A transient transgenic RNAi strategy for rapid characterization of gene function during embryonic development. PLoS One. 5:e14375,2010.
*Carvalho LR, *Brinkmeier ML, *Castinetti F (*co-first), Ellsworth BS, Camper SA. Corepressors TLE1 and TLE3 interact with HESX1 and PROP1. Mol Endocrinol. 24:754-65, 2010.
Davis SW, Castinetti F, Carvalho LR, Ellsworth BS, Potok MA, Lyons RH, Brinkmeier ML, Raetzman LT, Carninci P, Mortensen AH, Hayashizaki Y, Arnhold IJ, Mendonca BB, Brue T, Camper SA. Molecular mechanisms of pituitary organogenesis: In search of novel regulatory genes. (Review) Mol Cell Endocrinol. 323:4-19, 2010.
Mustapha M, Fang Q, Gong TW, Dolan DF, Raphael Y, Camper SA, Duncan RK. Deafness and permanently reduced potassium channel gene expression and function in hypothyroid Pit1dw mutants. J Neurosci. 29:1212-23, 2009.