IRF5
GHOST FROM OUR PAST
It appears that Neanderthals are not extinct — they are still among us!
Image credit: Wikimedia
About fifty thousand years ago our species and Neanderthal hominids interbred. Although Neanderthals went extinct, or were “assimilated”, parts of their DNA survive in Eurasian genomes. Long stretches of Neanderthal DNA are now scattered within our genomes, mostly in intergenic regions. One of these stretches contains a gene called IRF5 (Interferon Regulatory Factor 5), which functions in our immune system. Genome-wide association studies (GWAS) revealed that people carrying the Neanderthal version of the IRF5 gene (and its surrounding regulatory DNA/haplotype) have increased risk of developing Systemic Lupus Erythematosus (SLE), a serious autoimmune disease..
We are working to understand how exactly the Neanderthal DNA contributes to SLE risk. We explore how different regulatory elements within this region combine to regulate the expression and function of IRF5 in the immune system. This study is expected to enhance our understanding of the genetic basis of Lupus, and hopefully, will pave the way for new diagnostic and therapeutic strategies.
IN COLLABORATION WITH:
Tim Niewold, PhD, director of the Judith and Stewart Colton Center for Autoimmunity at NYU Langone Health
Funding:
The Judith and Stewart Colton Center for Autoimmunity at NYU Langone Health