Research
Blm DNA Helicase
In humans, the Bloom (BLM) DNA helicase protein is involved in the repair of DNA damage and in responding to challenges that arise during DNA replication. Loss of BLM activity leads to the rare autosomal recessive disorder Bloom Syndrome, which is characterized by developmental abnormalities and cancer susceptibility. The functions of human BLM are well conserved in Drosophila Blm, which allows us to use Drosophila (the fruit fly) as a model for studying the functions of this important protein.
In our lab, we have been focusing on the role Blm plays during replication of DNA during the rapid cell cycles of the early Drosophila embryo.
The nuclei of a developing wild type Drosophila embryo.
Image by Eric Stoffregen
This developing Blm-deficient embryo is in much worse shape.
Image by Eric Stoffregen
Ongoing Projects
Y chromosome variability
We have been collaborating with Dr. Mia Levine at the University of Pennsylvania to identify natural variation in Y chromosome sequences. We are interested in adding to the growing body of knowledge that repetitive DNA sequences (like those that make up the entirety of the Y chromosome in Drosophila) have measurable biological consequences.
Long-term consequences of early DNA damage
We are interested in the long-term effects of DNA damage that occurs in the embryos from Blm-mutant mothers. We hypothesize that Blm-deficiency during early development will result in a perturbations of lifespan, body composition, locomotor activity, and stress tolerance.
Female (left or top) and male (right or bottom) Drosophila melanogaster illustrations.
Curtesy of Joana Carvalho (@lifeofmaro)
Research funding
Our lab currently (2022-2026) has funding via a SuRE (R16) grant from the National Institute of General Medical Sciences of the National Institutes of Health under Grant 1R16GM146606.
Our work has been funded by a Pilot Project Grant and smaller research grants from the Idaho INBRE Research Grant, which is funding through an Institutional Development Award (IDeA) from the National Institute of General Medical Sciences of the National Institutes of Health under Grant #P20GM103408.
Lab Publications
Our paper "Blm Helicase Facilitates Rapid Replication of Repetitive DNA Sequences in early Drosophila Development" was published in Genetics. This featured work by Jolee (first author) and Karly.
The link to the article on Genetics is here: https://academic.oup.com/genetics/article-abstract/220/1/iyab169/6407149
A PDF of the article is here: Ruchert et al. 2022
The supplemental material is here: Ruchert et al. 2022 Supplement