Susan C. Chapman
340 Long Hall
Phone: 864-656-3384 (lab)
- Research Associate, University of Utah, 2004-2007
- Postdoctoral Fellow, University of Utah, 2002-2004
- Ph.D. Developmental Biology, King's College London, 2002
- B.S. Open University, 1999
- B.S. Neuroscience, University College London, 1998
- Creatine (Cr) transporter deficiency syndrome affects 1 million people, resulting in X-linked intellectual disability (XLID) and autism spectrum disorder (ASD). Lacking comprehensive genetic testing, this number is likely grossly underestimated, especially in females, who have milder symptoms due to their second X-chromosome and random inactivation. SLC6A8 codes for the Cr transporter (CrT), without which Cr cannot pass the blood-brain barrier (BBB), nor enter neuronal cells, thus hindering ATP production and metabolic activity in the brain. Patients with SLC6A8 mutations do not respond to treatment with oral Cr supplements and thus currently there are no available treatment modalities. Using the zebrafish as a model we are testing N-modified Cr analogs for their ability to cross the blood-brain barrier and enter neuronal cells, thereby rescuing the phenotype.
- Mutations in MECP2, an X-linked gene, are responsible for 96% of Rett Syndrome cases, which in turn account for 1% of all autism cases. Patients are mostly female due to lethal effects in male fetuses. They exhibit a number of clinical signs; a lack of verbal skills; failure to walk, small hands and microcephaly, stereotyped hand movements and 80% have seizures in addition to other behavioral and physiological impairments. Until recently monogenic diseases were thought to result in a single phenotypic outcome, no matter the position of the pathogenic mutation in the gene. 233 missense SNPs have been identified in the MECP2 gene. However, of the few individual SNPs studied, varying severities of Rett syndrome result, and in a few cases non-Rett syndrome phenotypes have developed. This suggests that the position of the SNP in the DNA acts as the driving force behind the phenotypic outcome. Recapitulating each missense SNP in zebrafish will reveal the molecular basis for the variants within Rett syndrome and between Rett, Angelman, mental retardation and encephalopathy phenotypes from SNPs in the MECP2 gene.
- Dana J Rashid, Susan C Chapman, Hans CE Larsson, Chris L Organ, Anne-Gaelle Bebin, Christa Merzdorf, Roger Bradley and John R Horner. From dinosaurs to birds: a tail of evolution. EvoDevo. 2014, 5:25. doi:10.1186/2041-9139-5-25.
- Tugba G Kucukkal, Ye Yang , Susan C. Chapman, Weiguo Cao and Emil Alexov. Computational and experimental approaches to reveal the effects of single nucleotide polymorphisms with respect to disease diagnostics. International Journal of Molecular Sciences. 2014;15, 9670-717.
- Lisa M. Galli, Roeben N. Munji, Susan C. Chapman, Ann Easton, Lydia Li, Ouma Onguka, Joseph S. Ramahi, Rowena Suriben, Linda A. Szabo, Camilla Teng, Baouyen Tran, Rami N. Hannoush and Laura W. Burrus. FRIZZLED10 mediates WNT1 and WNT3a signaling in the dorsal spinal cord of the developing chick embryo. Developmental Dynamics. 2014; 243(6):833-43.
- Rooksana E. Noorai, Nowlan H. Freese, Lindsay M. Wright, Susan C. Chapman, Leigh Anne Clark. 2012. Genome-wide Association Mapping and Identification of Candidate Genes for the Rumpless and Ear-tufted Traits of the Araucana Chicken. PLOS One, Vol7, Issue7:1-6.
- Megha Kumar and Susan C. Chapman. 2012. Cloning and expression analysis of Fgf5, 6 and 7 during early development. Gene Expression Patterns. 12:245-253.
- Megha Kumar, Poulomi Ray and Susan C. Chapman. 2012. FGF signaling is required for specifying pre-chondrogenic identity in neural crest derived mesenchyme, but cannot initiate the chondrogenic program. Developmental Dynamics, 241:1091–1103.
- Susan Caroline Chapman. 2011. Can you hear me now? Understanding vertebrate middle ear development. Frontiers in Biosciences, 16:1675-1692.
- Jamie L Wood, Ami J Hughes, Kathryn J Mercer, Susan C. Chapman. 2010. Analysis of chick (Gallus gallus) middle ear columella formation. BMC Developmental Biology, 10:16.
- Steven B. Bleyl, Yukio Saijoh, Noortje A.M. Bax, Adriana C. Gittenberger-de Groot, Lambertus J. Wisse, Susan C. Chapman, Jennifer Hunter, Hidetaka Shiratori, Hiroshi Hamada, Shigehito Yamada, Kohei Shiota, Scott E. Klewer, Mark F. Leppert and Gary C. Schoenwolf. 2010. Dysregulation of the PDGFRA gene causes inflow tract anomalies including TAPVR: integrating evidence from human genetics and model organisms. Human Molecular Genetics, 19(7):1286-1301.
- Christian N. Paxton, Steven B. Bleyl, Susan C. Chapman, Gary C. Schoenwolf. 2009. Identification of differentially expressed genes in early inner ear development. Gene Expression Patterns. 10.1016/j.gep.2009.11.002.
- Michelle Warren, Karolina Puskarczyk and Susan C. Chapman. 2009. Chick Embryo Proliferation Studies Using EdU Labeling. Developmental Dynamics. 238:944-949.
- Susan C. Chapman, Kiyoshi Matsumoto, Qin Cai, Gary C Schoenwolf. 2007. Specification of germ layer identity in the chick gastrula. BMC Developmental Biology, 7:91.
- BIOL/MICR/GEN 4910
Undergraduate Research in Biological Sciences
- BIOL4940/4941 Creative Inquiry
- AAAS – American Association for the Advancement of Science
- ASCB – American Society for Cell Biology
- AAA – American Association of Anatomists
- Anatomical Society
- BSDB (British Society for Developmental Biology)
- SDB (Society for Developmental Biology)