CLEMSON, South Carolina — Clemson University College of Science faculty member Kara Powder has received a $1.17 million National Science Foundation CAREER award grant to investigate gene regulatory elements that determine craniofacial development and evolution.
Insights from Powder’s research may someday provide targets for gene therapies addressing craniofacial malformations, which occur in about 70 percent of all human birth defects.
“Dr. Powder’s NSF CAREER grant is national recognition of the exciting and innovative questions she is asking about craniofacial development,” said Saara DeWalt, professor and chair of the department of biological sciences. “I am very excited to see what she learns from this research and am thrilled to have such an innovative researcher in our department. Dr. Powder is now among several other junior faculty in our department who have recently been awarded prestigious federal grants.”
Only two to three percent of any vertebrate’s genome is made of protein-coding genes, and those genes are basically the same in all animals, whether they be a fish, mouse or human. Each animal’s genome, though, also contains a set of instructions known as regulatory elements that turn genes on and off — a process that uses the same genes in different ways to make various animals.
Powder uses cichlid fishes from Lake Malawi in East Africa as a model system because more than 1,000 different species of the fish evolved from the same ancestor during the last two million years. The fish differ in their facial structure, which developed to support what they eat.
“That’s an incredibly short period when you are talking about evolutionary time,” said Powder, an assistant professor of biological sciences.
“Most people have heard of Darwin’s finches,” she added, referring to the 15 species of birds that Charles Darwin observed on the Galapagos Islands as he formulated his evolutionary theory. “They have different beaks based on what they eat. Think about that and throw it in a lake—that’s these fish. Then multiply it by 100s.”
According to Powder, the fish have the same genes, however they just turn them on or off differently, which results in a variety of facial structures.
“Cichlids have all these different faces, but they are mostly along one continuous spectrum, just as human faces are on a continuous spectrum,” Powder said. “A gene that makes a particular bone grow larger or smaller in a fish could cause some sort of malformation in a human face if it’s mutated, which is why studying this animal model is so useful.”
Powder will identify regulatory elements through genome analysis, quantify how altered gene regulation during embryo development changes the fish’s facial shape, and assess the effects DNA mutations have on regulatory function.
Specifically, she and her students will use a version of the CRISPR gene editing tool to turn on or off global regions of genes in the fish. “We’ll use the tools to build this complete story about what the regulatory elements are doing—how they are regulating genes and how that changes what [the fish] looks like.”
In addition to supporting faculty research, NSF CAREER awards have an educational component to them. Powder’s long-term goal is to increase diversity in STEM fields. In the short term, she will mentor undergraduate students from under-represented groups through summer research internships in her lab. In collaboration with the College of Science Outreach Center, she and her students will develop hands-on educational activities for local and state-wide middle school students.
The full title of Powder’s CAREER award is “Phenotypic and development effects of enhancer variation on cichlid craniofacial evolution.”
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