Sally Ann Camper

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University: 
University of Michigan - Ann Arbor
Unit: 
Medicine
Department: 
Human Genetics
Title: 
Professor
Short bio: 

1986-1988 Princeton University, Postdoctoral Fellow

1984-1986 Institute for Cancer Research, Postdoctoral Fellow

1983 Michigan State University, Ph.D.Biochemistry

1976 University of Delaware, B.S.Chemistry

 

 

Research summary: 

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.

Recent publications: 

Wang A, Liang Y, Fridell RA, *Probst FJ, Wilcox ER, Touchman JW, Morton CC, Morell RJ, Noben-Trauth K, Camper SA, Friedman TB. Association of unconventional myosin Myo15 mutations with human nonsyndromic deafness DFNB3. Science 280:1447-1451, 1998. 

*Probst FJ, Fridell RA, Raphael Y, Saunders TL, Wang A, Liang Y, Morell RJ, Touchman JW, Lyons RH, Noben-Trauth, Friedman TB, Camper SA. Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene. Science 280:1447-1448, 1998. 

*Charles MA, *Suh H (co-first), Hjalt TA, Drouin J, Camper SA†, **Gage PJ. PITX genes are required for cell survival and Lhx3 activation. Mol Endocrinol. 19:1893-903, 2005. (Endocrine Society student award winning paper) 

*Ward RD, **Raetzman LT, *Suh H, Stone BM, *Nasonkin IO, Camper SA. Role of PROP1 in pituitary gland growth. Mol Endocrinol. 19:698-710, 2005. 

**Raetzman LT, Ross SA, Cook S, Dunwoodie SL, Camper SA, Thomas PQ. Developmental regulation of Notch signaling genes in the embryonic pituitary: Prop1 deficiency affects Notch2 expression, Developmental Biology, 265: 329-340, 2004. featured on the cover 

Cha KB, Karolyi IJ, Hunt A, Wenglikowski AM, WIlkinson JE, Dolan DF, Dootz G, Finnegan AA, Seasholtz AF, Hankenson K, Siracusa LD, Camper SA. Skeletal dsyplasia and male infertility locus on mouse chromosome 9. Genomics. 83:951-60, 2004. 

Karolyi IJ, *Probst FJ, Beyer L, Odeh H, Dootz G, *Cha KB, **Martin DM, Avraham KB, Kohrman D, Dolan DF, Raphael Y, Camper SA. Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereocilia. Hum Mol Genet. 12:2797-805, 2003. featured on the cover 

*Cushman LJ, *Watkins-Chow DE, Brinkmeier ML, **Raetzman LT, Radak AL, Lloyd RV, Camper SA. Persistent Prop1 expression delays gonadotrope differentiation and enhances pituitary tumor susceptibility. Hum Mol Genet 10: 1141-1153, 2001.