Poster (image):

Poster Presentation (video):

Presenter: Zachary Fitzhugh

Authors: Zachary Fitzhugh, Xiaogang Wu, and Martin R. Schiller

Mentor(s): Dr. Martin Schiller

Abstract: All proteins end with a carboxylic acid commonly called the C-terminus. Many short functional sequences (minimotifs) are located on or immediately proximal to the C-terminus. Herein, we explore the presence of variants across human C-termini. We found over 300 pathogenic missense variants and over 23,000 pathogenic nonsense variants on the C-termini associated with nearly 300 human disorders. Of these, there were 129 cases where the modified residue of a C-terminal post-translational modification was lost due to a missense variant. Coding sequences and their C-termini were identified with a custom Python program and are from NCBI’s RefSeq Reference Genome Annotation.

POSTER (Image):

POSTER PRESENTATION (Video):

PRESENTER: Nabih Ghani  

AUTHORS: Nabih Ghani, Chinglan Chang B.S., Edwin Oh Ph.D.

MENTOR: Edwin Oh Ph.D.

ABSTRACT:

The primary cilium is an important organelle in mammalian cells that plays a role in cell signaling and development. Problems with the function of primary cilia in cells are linked with many disorders that are collectively known as ciliopathies. Pericentriolar Material 1 (Pcm1) is a gene that plays an important role in the functioning of primary cilia. The goal of this project was to find genes that show phenotypes similar to Pcm1 when knocked out in mice. Using the International Mouse Phenotyping Consortium (IMPC), a database that houses data about knockout genes and their associated phenotypes in mice, we found nine phenotypes associated with a knockout mouse model of Pcm1. Then, using the IMPC database, we were able to identify genes associated with each phenotype and compiled and analyzed the data in Excel. During the summer, the analysis of the data revealed three genes that when deleted in mice shared six of the nine phenotypes associated with the Pcm1 knockout mouse. The three genes were Dnase1l2, Slc20a2, and Sparc. The IMPC database is often updated and performing this analysis after the updates will help identify more potential genes that mimic the loss of Pcm1. By identifying these genes, we can find new avenues for research that are associated with our gene of interest.