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A point mutation in Celsr3 linked to Tourette Syndrome impacts dendritic patterning of pyramidal neurons in the mouse somatosensory cortex
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McGinnis, Julianne Elizabeth. A point mutation in Celsr3 linked to Tourette Syndrome impacts dendritic patterning of pyramidal neurons in the mouse somatosensory cortex. Retrieved from https://doi.org/doi:10.7282/t3-x8w2-0928

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TitleA point mutation in Celsr3 linked to Tourette Syndrome impacts dendritic patterning of pyramidal neurons in the mouse somatosensory cortex
NameMcGinnis, Julianne Elizabeth (author); Heiman, Gary (chair); Tischfield, Max (member); Poppi, Lauren (member); Rispoli, Jess (member); Seymour, Christy (member); Rutgers University; School of Graduate Studies
Date Created2022
Other Date2022-05 (degree)
SubjectGenetics, Neurosciences, Celsr3, Pyramidal neurons, Tourette syndrome
Extent41 pages : illustrations
DescriptionThe cause of Tourette Syndrome (TS) is thought to be due to a combination of multiple genetic as well as environmental factors. To improve genetic counseling outcomes for these patients, it’s imperative that we continue the search for risk genes associated with the condition. A recent trio-based study using whole exome sequencing (WES) uncovered de novo variations in the gene Celsr3 associated with TS (Willsey, 2017). Celsr3 is known to be involved in neurite patterning, synapse formation, and interneuron migration, and is highly expressed in striatal cholinergic interneurons (CINs) (Keeler et al., 2015); (Goffinet & Tissir, 2017); (Thakar et al., 2017). Our preliminary data using a mouse model engineered to express a missense mutation leading to a R774H amino acid substitution, which was discovered in the previously mentioned trio study, show that Celsr3 mutant CINs are more complex in their branching patterns when compared to wild type CINs. To further study how this point mutation effects the cortico-striatal-thalamo circuit (CSTC) I looked at a population of neurons within the cortex known as the pyramidal neurons. Given the changes we saw in the mutant CINs, I hypothesize that cortical pyramidal neurons which harbor the Celsr3 R774H amino acid substitution will show changes to dendrite morphogenesis.
NoteM.S.
NoteIncludes bibliographical references
Genretheses
Persistent URLhttps://doi.org/doi:10.7282/t3-x8w2-0928
LanguageEnglish
CollectionSchool of Graduate Studies Electronic Theses and Dissertations
Organization NameRutgers, The State University of New Jersey
RightsThe author owns the copyright to this work.
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