GENETICS & GENOMICS with all have their own projects. They’re not just doing one thing. They’re looking at a variety of things, and that sounded interesting to me.” LEARNING AND GROWING Kathleen’s goal while in Dindot’s lab this past summer was to learn as much as possible about Angelman syndrome. “I’ve been reading a lot of papers about it,” Kathleen said. “I’ve looked at what all the other people in the lab have been doing, watched over their shoulders. I’ve also had the opportunity to
stands for ubiquitin protein E3A ligase, and is the gene causing Angelman syndrome, is imprinted in the brain. Genomic imprinting is a rare phenomenon in the genome. Essentially, it is a form of gene regulation in which one allele, or “switch,” of a gene is on and the other is off. The Angelman gene is active on the chromosome that is inherited from the mother and inactive on the chromosome inherited from the father. Because of this, all individuals with Angelman syndrome have mutations on the allele they inherited from their mother.
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ACCORDING TO THE CENTERS FOR DISEASE CONTROL AND PREVENTION (CDC),
1 IN 68 INDIVIDUALS HAVE A DIAGNOSIS OF AUTISM SPECTRUM DISORDER. Most children are diagnosed when they see a physician. Typically they miss their developmental milestones, but often their parents and other caregivers notice social deficits. Since autism is a spectrum disorder, it varies considerably from individual to individual, but primary signals include social communication deficits, learning disability, and repetitive behaviors.
get my hands wet, as well, by running some PCR reactions and isolating some DNA.” The PCR reactions Kathleen has worked with involved comparing normal flies with fly models of Angelman syndrome to see if the studies were successful at developing flies that express the same symptoms as humans with Angelman syndrome. Kathleen said one of the most fascinating things she has learned was that UBE3A, which
“There are only about 100 or so imprinted genes in the human genome, out of tens of thousands according to Dr. Dindot,” Kathleen said. “The area we are investigating is pretty limited. What the lab team is looking at, is trying to re-wire the regulation of the UBE3A gene so that the paternal allele is turned on. This would then replace the faulty maternal allele.” Through their own initiative, both Dylan and Kathleen discovered Dindot’s work, and while