Angier, Natalie. "A Family’s Shared Defect Sheds Light on the Human Genome." New
York Times. Web.
I decided to read Natalie Angier’s "A Family’s Shared Defect Sheds Light on the Human Genome." which was published in the New York Times. The article describes the interesting insight into genetics that a family history of syndactyly provided to doctors and scientists. Syndactyly is a congenital deformity in which the thumb and forefinger are fused together on either one or both hands. The deformity has been extremely prevalent in one family, which the article is based on, with ten members of the extended family all having the defect. The family has agreed to be part of a study, under the promise of anonymity, to look into the cause and possible prevention methods of limb malformations. These types of mutations affect a newly discovered feature of DNA called topologically associated domains, or TADs. Scientists have discovered that the human genome is divvied up into regions, these TADs, and when the TAD divisions are broken the genome becomes confused and mistakes like syndactyly occur. By dividing chromatin, labeling it, and then allowing it to reassemble, researchers have discovered that there are over 2,000 of these TADs and they serve as the folding boundaries for DNA. The TADs also keep genes and regulatory proteins focused in their own neighborhood and separate from others. The TAD boundaries appear to be made up of Nucleic sequences that attract circular proteins called cohesin and CTCF. Scientist’s understanding of TADs are just one more step towards complete understanding of the human genome, a far away goal but one that is coming closer and closer.
The research that this article discusses is extremely relevant to everyone, because it pertains to the human genome. Research into DNA and the way it operates can be very beneficial to people who suffer from genetic diseases. The discovery of TADs and the understanding of the way the work bring us closer to understanding all of the causes of health issues like cancer and congenital diseases. The more we understand about the way TADs work the better doctors and scientists can treat issues that arise with them. Treating ailments at the genetic level is the next step of medicine and small steps like the discovery of TADs contribute greatly.
I found the article to be very well written. The use of the family’s genetic issues as an example as well as the description of many studies and biological phenomenon were helpful and informative. The language was extremely descriptive but not difficult to understand and the many metaphors and similes worked well to clarify exactly what the author and scientists were saying. One thing I wished the author had done is tie the story of the family back in to the end of the article to better wrap up the article. Overall it was well written and I learned something very interesting and helpful.