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Biochemist and students delve into the mysteries of our genes
Postcards from the Classroom: Mutants
Mutants: Genetic Variation and Human Development
"We are all mutants," science faculty member Amie Jo McClellan announces to the class. She indicates a five-foot scroll outlining the recently catalogued 30,000 genes of the human genome. "We share 99.9% of our DNA, and we owe everything that makes each of us unique to genetic mutations. Every new embryo possesses on average about 100 mutations not found in its parents. These polymorphisms underlie human diversity." Biochemist McClellan has long been interested in what can spring from changes in the building blocks of our being, using the yeast cell Saccharomyces cerevisiae to investigate cellular protein folding. Due to genetic mutation or some other glitch at the molecular level, protein misfolding underlies such diseases as Cystic Fibrosis, Huntington's Disease, and Alzheimer's. At a friend's California home last New Year's, McClellan happened upon Mutants, by Armand Marie Leroi, and was instantly intrigued by the developmental tangents that whole organisms can take. "Leroi puts mutants in a historical and cultural context. However, he doesn't give in-depth scientific explanations, but says only, 'A mutant form of protein "X" is responsible.' When I was still interviewing for a job at Bennington, I thought, Wow, it would be great to teach a class that covers everything Leroi is talking about and also asks, 'Why that protein? What does it normally do inside the cell and how exactly does that affect the organism's development?'" She "permanently borrowed" the book from her friend, she relates with a laugh, and it has become the text for her first class at Bennington. Historically, humans have attributed deformities to all manner of symbolic and supernatural causes, including the wrath of God, conception during menstruation, a narrow womb, bad posture, and "maternal impressions"--the mother's seeing something unspeakable during pregnancy. Human progress with formulating scientific explanations--down to identifying the specific collections of malfunctioning genes, such as the six that evince schizophrenia--is one of Mutants' primary topics. "Some things we've figured out," McClellan says. "Many things remain mysterious. For example, we still don't know the precise causes of some forms of conjoined twinning. Did they never split? Or did they split and then come back together?" In such cases, the quest for an explanation is complicated by ethical questions. The class recently viewed a documentary, called Body Shock, concerning conjoined twins born not long ago in Egypt. The twins inspired so much controversy that doctors wound up consulting a religious leader about whether or not to separate them. Julie Moore '08, fascinated by gender rights, first signed up for Mutants hoping to examine the juncture of ethics and genetics. In response to the Body Shock documentary, Moore wrote an essay exploring its ethical implications, eventually concluding that "Science can't ignore religion; religion is too integral to one's self- and world-perceptions. At the same time, one shouldn't pander to religion at the cost of public health." She has since written a paper on Androgen Insensitivity Syndrome, explaining how skewed perceptions of intersexed individuals have made doctors rash with their treatments. The class frequently wrestles with controversial public health initiatives: Condom distribution in schools and a vaccine for young women against the Human Papilloma Virus (the primary cause of cervical cancer) are just two. And some issues are even more incendiary--for instance, the idea of choosing human eggs based on their genetic "perfection." When the students started debating that subject (technically called "pre-implantation genetic diagnosis"), Moore says, "Everyone had so much to say that Amie decided, 'Let's take the whole class to discuss this.' And everyone contributed. No arguing. The talk was civil, intelligent, and informed." "This is not just your standard science class," McClellan says, and Rachel Wentz '08 concurs. Wentz registered for Mutants in preparation for graduate work in psychology. She has been able to use her weekly essay assignments to examine the relationship between genetic mutations and psychological phenomena. "The painter Vassily Kandinsky had synesthesia," she says, "which crosses the senses. So he was able to 'hear' colors. His paintings were musical compositions." Which emphasizes one of the things McClellan finds most fascinating about mutations: Rarely do they have a single effect. With albinism can come deafness; with red hair, obesity. What excites McClellan is how those phenomena bring to light "the full range of possibilities hidden in our genes." What's that creature in the picture? In 1512, while Italy was at war with Spain, a child was born with, among other deformities, fused bottom limbs. Eighteen days later, the city of Ravenna fell to the Spanish, and the child, dubbed "the monster of Ravenna," was blamed. Julius II ordered it starved to death. The "monster" was likely only a baby with Roberts Syndrome, a rare but severe disorder characterized by underdeveloped limbs and craniofacial abnormalities. Inherited in an autosomal recessive manner, the gene responsible for Roberts Syndrome is called ESCO2 and resides on chromosome 8. However, descriptions of the "creature" grew ever more elaborate and symbolic: It came to possess wings, scales, horns, an eye on its knee, talons, and hermaphroditic genitalia--leading to illustrations like the one used in the image for this article. Click here to see the original drawing from Ulisse Aldrovandi's Monstrorum Historia (1642). More:
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