Office Phone: (301)405-6934
Office Address: 0122 BioScience Research Building
BSCI410, Molecular Genetics
BSCI416, Human Genetics
CBMG688I, Advanced Genetics (MOCB graduate core course)
CBMG688P, Programming for Biology (CBBG graduate core course)
Research in the Mount lab is devoted to understanding how multicellular organisms accomplish the correct processing of RNA from protein-coding genes. This involves identifying the elements of primary sequence information that determine where (and whether or not) splicing will occur, determining which components of the splicing machinery play especially salient roles in recognizing those signals, and determining how those factors act.
Recently, our focus has been increasingly directed towards the use of bioinformatics, primarily in collaborative projects. When the first eukaryotic genes were sequenced, and introns were discovered, similarity in the sequences at splice sites served as important clues to the way that splice sites were recognized. We have applied knowledge of how splice sites are recognized to the impact of human genetic variation on splicing, finding that a surprisingly large fraction of "Impact SNPs" may act through splicing.
Another current focus is on improving our ability to infer patterns of splicing, including unusual events (such as extremely small exons or splicing at sites that do not fit consensus) from available data (most often, short read RNAseq data). Ongoing research in this area is focused on comparison of existing methods for analysis of differential alternative splicing using RNA-seq data.
B.A., Rice University, 1978
Ph.D., Yale University, 1983