Author ORCID Identifier

https://orcid.org/0000-0002-8299-1383

Date of Graduation

8-2025

Document Type

Thesis (MS)

Program Affiliation

Biomedical Sciences

Degree Name

Masters of Science (MS)

Advisor/Committee Chair

Rachel K. Miller Ph.D.

Committee Member

Mir Reza Bekheirnia M.D.

Committee Member

Francesca Cole Ph.D.

Committee Member

Yoshihiro Komatsu Ph.D.

Committee Member

Ralph Krahe Ph.D.

Committee Member

Amy Sater Ph.D.

Abstract

Li-Fraumeni syndrome (LFS) is a heritable disorder caused by germline mutations in the TP53 gene that result in an increased risk of cancer. The TP53 tumor suppressor gene regulates cell division and prevents the accumulation of cells that may become cancerous. LFS patients are susceptible to various types of cancers, including osteosarcoma, soft tissue sarcoma, acute leukemia, and adrenal cortical tumors, as well as breast and brain cancer. Additionally, these patients have an increased risk of developing kidney, stomach, colon, pancreas, esophagus, lung, and gonadal germ cell cancers. Prior studies indicate that p53 is involved in kidney development. However, there is no confirmed link between Li-Fraumeni TP53 patient mutations and kidney abnormalities. Nevertheless, collaborative data indicate these patients have an increased prevalence of urogenital anomalies (36%) as compared with the general population (10%) [1]. Considering individuals with LFS are predisposed to cancer due to mutations in TP53, and they have a higher occurrence of congenital anomalies of the kidney and urinary tract, our goal is to determine whether germline disruption of p53 contributes to kidney developmental anomalies. Here, we establish a foundation for future analysis of the molecular mechanism(s) by which p53 influences kidney development. Additionally, we show that kidney-targeted p53 manipulation profoundly disrupts the development of multiple nephron segments in Xenopus embryos. Future studies will further explore the role of p53 in nephron development by modeling the effects of Li-Fraumeni patient-derived mutations in the developing kidney.

Keywords

Renal, Anomalies, Li-Fraumeni syndrome, xenopus, p53

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