Battle of the X’s: Comparing Gene Expression Between Maternal and Paternal X Chromosomes
Leia Pineda, Mona Velazquez
Department of Chemistry & Biochemistry
Faculty Supervisor: Scott Roy
Genomic imprinting occurs when one copy of a gene is expressed, while the other copy gets repressed. To investigate effects of potential genomic imprinting on maternal- or paternal-inherited X chromosomes, we used data from individuals with Turner Syndrome and Klinefelter syndrome. Turner Syndrome occurs in individuals with an X0 genotype. This means the absence of a second sex chromosome and only inheriting a single X, which can come from either mother (Xm) or father (Xp). Klinefelter Syndrome is a common genetic condition where an individual inherits an additional X chromosome, resulting in an XXY genotype. Therefore, individuals with either of these genotypes could inherit an extra X chromosome from their maternal side (extra Xm) and/or paternal side (extra Xp). To search for genes differentially expressed between Xp and Xm, we compared microarray data between Xm0 and Xp0 Turner patients, and between XmXpY and XmXmY Klinefelter patients, using a differential expression analysis pipeline in RStudio.