Poster #79: Weijun Zeng PhD

Using cross-species validations to understand the function of aneuploidy risk genes

Weijun Zeng1,2, Julia Einfeldt1, Carlos Nava Cruz1, Neha Changela3, Janet Jang3, Disha Garg1,3, Maureen Barr1,2, Kim S. Mckim1,3, Juan Wang1,2, Jinchuan Xing1,2, Karen Schindler1,2 1Department of Genetics, Rutgers, The State University of New Jersey, Piscataway, NJ, USA 2Human Genetics Institute of New Jersey, Rutgers, The State University of New Jersey, 145 Bevier Road, Piscataway, NJ 08854, USA 3Waksman Institute, Rutgers, The State University of New Jersey, 190 Frelinghuysen Road, Piscataway, NJ 08854, USA.

Egg aneuploidy, the presence of an abnormal number of chromosomes in eggs, is a significant factor contributing to female infertility. Previous human studies have used whole-exome sequencing data from patients and highlighted hundreds of human candidate genes with potential correlation on egg aneuploidy. However, the functional contribution of them to aneuploidy remains poorly understood, limiting mechanistic interpretation and downstream validation. To better understand the functional impact of human candidate genes, we integrated RNAi knockdown screening results from two model organisms, D. Melanogaster and C. Elegans, into our experiment design to determine the impact of the candidate genes on egg aneuploidy. By screening more than 100 candidate genes in each model organism, we discovered 27 human candidate genes that shares positive results in both D. Melanogaster and C. elegans screenings. Together, these findings will guide future functional studies in mouse system to further understand the biological mechanisms of human patient mutations and their functional impacts on egg aneuploidy.