Donna M Martin M.D.,Ph.D.
| University of Michigan Medical Center 1150 W. Medical Center Dr. |
| Ann Arbor, MI 48109 |
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Our laboratory research focuses on the genetic basis of central nervous system function in relation to disorders of human development. Specifically, we focus on genes predicted to influence neuronal differentiation and migration. We are studying the roles of a transcription factor, Pitx2, and a novel chromodomain gene, Chd7, in the developing central nervous system. Pitx2 was originally identified as an important regulator of early embryonic development. Humans with mutations in PITX2 have Rieger syndrome, a genetic disorder with eye, tooth, and umbilical defects, and variable cardiac, pituitary, and brain dysfunction including mental retardation and hydrocephalus. Pitx2 is expressed in discrete regions of the brain, and is crucial for determining how these neurons become organized into functional nuclei. Chd7 is a chromodomain gene mutated in CHARGE syndrome, a congenital anomaly condition affecting the brain, eyes, ears, heart, and craniofacial structures. We use genetic approaches in mice to study how loss of Pitx2 or Chd7 disrupts organ development. These studies have important implications for understanding the mechanisms involved in central nervous system and other organ development, and for improving the diagnosis and treatment of developmental disorders.
Hurd EA, Capers PL, Blauwkamp MN, Adams ME, Raphael Y, Poucher HK, Martin DM. Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues. Mamm Genome. 2007 Feb;18(2):94-104.
Sclafani, AM, Skidmore, JM, Ramaprakash, H, Trumpp, A, Gage, PJ, Martin, DM. Nestin-Cre mediated deletion of Pitx2 in the mouse. Genesis, 2006 Jul;44(7):336-44.
Vadlamudi, U, Espinoza, HM, Ganga, M, Martin, DM, Liu, X, Engelhardt, JF, Amendt, BA. PITX2, beta-catenin and LEF-1 interact to synergistically regulate the LEF-1 promoter. Journal of Cell Science Mar 15;118(Pt 6):1129-37 (2005).
Philips, ST, Albin, RA, Martin, DM. Genetics of Subthalamic Nucleus in Development and Disease. Experimental Neurology 192 (2005) 320-330.
FJ Probst, P Hedera, AM Sclafani, MG Pomponi, G Neri, J Tyson, JA Douglas, EM Petty, DM Martin. Skewed X-inactivation in Carriers Refines Genetic Mapping of a Novel X-linked Deafness Mental Retardation Syndrome. American Journal of Medical Genetics 131A: 209-212 (2004).
Martin, DM, Skidmore, JM, Philips, ST, Vieira, C, Gage, PJ, Condie, BG, Raphael, Y, Martinez, S, Camper, SA. PITX2 is required for normal development of neurons in the mouse subthalamic nucleus and midbrain. Developmental Biology 267 (1):93-108 (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 gene function is distinct from Myo6, Myo7a, and pirouette genes in development of cochlear stereocilia. Human Molecular Genetics 12(21):2797-805 (2003).
Treutelaar, MK, Skidmore, JM Dias-Leme, CL, Hara, M, Zhang, L Simeone, D, Martin, DM, Burant, CF, Nestin-lineage cells contribute to the microvasculature but not endocrine cells of the islet. Diabetes 52(10):2503-2512 (2003).
Martin, DM and Raphael, Y. Gene-Based Diagnostic and Treatment Methods for Tinnitus. Tinnitus 9(1):3-10, 2003.
Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Gebarski SS, Lesperance MM. Characterization of a Stapes Ankylosis Family with a NOG Mutation. Otology and Neurotology 24(2):210-5, 2003.
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