Erik
J. Sontheimer, PhD
Assistant Professor
Department of Biochemistry, Molecular Biology and Cell Biology
To Contact Dr. Sontheimer:
phone: 847-467-6880
e-mail: erik@northwestern.edu
Dr. Sontheimer's website
PubMed
Reference Lookup
Research Interests
The laboratory of Dr. Erik Sontheimer studies the functions of RNA
molecules in eukaryotic gene expression. Pre-mRNA splicing (the accurate removal
of introns from premessenger RNA) is mediated by several small nuclear RNAs,
and is essential for the expression of most eukaryotic genes. Many inherited
diseases result from defects in the removal of introns from specific transcripts;
approximately 15-20% of point mutations that cause human disease do so by
disrupting splicing. Several mechanistic aspects of pre-mRNA splicing are
poorly understood. How is the fidelity of splice site selection maintained?
How do specific protein and RNA factors collaborate to mediate splicing complex
assembly? What are the components of the splicing machinery’s catalytic
core” that catalyze the chemical reactions of pre-mRNA splicing? Dr.
Sontheimer’s lab uses biochemical approaches to addresss these issues
and thereby obtain a deeper understanding of intron removal. In addition to
their studies of pre-mRNA splicing, they are investigating the function of
the 7SK small nuclear RNA in transcriptional elongation. The transcription
of numerous loci such as the myc oncogene, the heat shock genes, and the Human
Immunodeficiency Virus (HIV) genome are known to be controlled at the level
of elongation rather than (or in addition to) initiation. The 7SK RNA was
recently shown to inhibit the activity of the transcription elongation factor
P-TEFb, but the mechanism of 7SK’s function is unknown. They are using
Xenopus oocytes as an experimental system to investigate the 7SK RNA and its
role in controlling transcriptional elongation by RNA polymerase II.