{"id":12817,"date":"2023-04-27T14:53:44","date_gmt":"2023-04-27T18:53:44","guid":{"rendered":"https:\/\/www.med.unc.edu\/genetics\/?p=12817"},"modified":"2023-04-27T14:53:44","modified_gmt":"2023-04-27T18:53:44","slug":"mammalian-evolution-provides-hints-for-understanding-the-origins-of-human-disease","status":"publish","type":"post","link":"https:\/\/www.med.unc.edu\/genetics\/mammalian-evolution-provides-hints-for-understanding-the-origins-of-human-disease\/","title":{"rendered":"Mammalian Evolution Provides Hints for Understanding the Origins of Human Disease"},"content":{"rendered":"

UNC School of Medicine\u2019s Patrick Sullivan, MD, FRANZCP, and a team of scientists in the Psychiatric Genetic Consortium have created a new manual researchers can use to learn more about the origins of human diseases with high genetic risk.<\/p>\n

\n
\"\"<\/a>
Patrick Sullivan, MD, FRANZCP<\/figcaption><\/figure>\n

CHAPEL HILL, N.C. \u2013 Hundreds of scientific studies have been conducted over the years to find the genes underlying common human traits, from eye color to intelligence and physical and mental illnesses.<\/p>\n

Patrick Sullivan, MD, FRANZCP<\/a>, the Yeargan Distinguished Professor of Psychiatry and Genetics at the UNC School of Medicine, and the\u00a0Psychiatric Genomic Consortium<\/a>\u00a0have produced a new\u00a0Zoonomia packet<\/a>\u00a0for the journal\u00a0Science<\/em>, to give researchers another way to understand human disease, using the power of evolutionary genomics.<\/p>\n

\u201cThis is a tool that can give us a lot of important hints about human disease,\u201d said Sullivan, who is also a professor at the\u00a0Karolinska Institute<\/a>\u00a0in Stockholm, Sweden. \u201cIf we can take a deep dive into your genome, we can get some idea about your ancestors, both human and nonhuman, and observe the impacts of many millions of years of evolution in you.\u201d<\/p>\n

What Makes Us Mammals<\/strong><\/p>\n

Every single living organism on the planet has DNA. The self-replicating material acts as a blueprint for producing certain molecules in organisms, such as proteins. It\u2019s no surprise that humans and our closest relatives, chimpanzees, share 98.8% of genetic material.<\/p>\n

\"\"<\/p>\n

While some of our genes have evolved over time, others have remained the same throughout the entire mammalian evolutionary process. In scientific terms, these are called \u201chighly constrained\u201d genes. Some human genes have a surprising amount of genetic similarity in mice, cows, dogs, cats, bats, and dolphins in many regions of the genome.<\/p>\n

These are the genes that unite us as mammals. Since these genes have undergone a \u201ctrial by fire\u201d throughout evolutionary history, these unaltered genetic regions must play a fundamental role in the health and genetic makeup of the organism, according to Sullivan.<\/p>\n

\u201cSome highly constrained genes can make proteins that are nearly identical in us and in a mouse,\u201d said Sullivan. \u201cThat\u2019s crazy because we have probably 60 million years of evolution between us and the mouse. And yet, this protein hasn\u2019t changed so we infer that this protein is doing something really important.\u201d<\/p>\n

It might be simpler to see the work of our shared genes when we zoom out to take a more holistic view.<\/p>\n

Humans and other mammals share anatomical structures, such as the four-chambered heart, lungs, hair (or fur), skeleton, and milk-producing mammary glands. We also share similar fundamental processes on a smaller scale, including embryology, how cells grow and divide, and the development and operation of the synapses that transmit neurological chemicals throughout our bodies and brains.<\/p>\n

All of which are formed through our shared genetic regions. So, if one of these genes that make up the basics of a mammal is altered or deleted, it could have negative effects on the organism.<\/p>\n

A New Way to Look at Human Mental and Physical Health<\/strong><\/p>\n

If a patient has a neurological brain disorder or certain psychiatric disorders, researchers are able to trace it back and see that this person has received a \u201cbig hit\u201d to one of the highly constrained genes that are critical to the nervous system, brain structure, or synapses.<\/p>\n

Many researchers have relied on the genome-wide association study (GWAS) to find where the genetic risk for a disease is located in the genome. Using genomic techniques and large-size samples, researchers can analyze the entire genome of many populations to find genetic variations, such as single nucleotide polymorphisms (SNPs), associated with a disease or a trait.<\/p>\n

Even though it is important to know where these variations are located in the genome, it\u2019s also useful to know how or why these genetic variations happened in the first place. Sullivan hopes that other researchers will make use of the new and extensive document to reach their own conclusions regarding the genetics underlying a variety of human diseases.<\/p>\n

\u201cAs it turns out, a lot of brain traits are actually highly conserved,\u201d said Sullivan, who serves as director of the\u00a0UNC\u00a0Suicide Prevention Institute<\/a>\u00a0in the Department of Psychiatry. \u201cThis research project has really given me a much, much deeper understanding of the genome and how the genome is set up. I now use this all the time in trying to understand schizophrenia, suicide, depression, and eating disorders.\u201d<\/p>\n

What This Means for Future Research<\/strong><\/p>\n

As one can imagine, the successful development of a human requires heavy lifting from proteins and DNA sequences. There are two short regions within our DNA, called regulatory enhancers and regulatory promoters, which play especially important roles in regulating our DNA.<\/p>\n

The creation of a human gene is similar to a factory that produces donuts. Regulatory enhancers are responsible for controlling the amount of dough squeezed out of the machine and onto the baking tray. Promoters, on the other hand, are in control of when the dough is being squirted onto the tray. At the end of the day, you have a full formed gene.<\/p>\n

Researchers like Sullivan may be able to go into the DNA sequences and increase or decrease these regulatory enhancers and promoters to affect the amount of proteins produced by genes, with the goal of lessening the effects of a genetically based disease.<\/p>\n

\u201cIt might be possible to hit the upstream part that controls it, in a very soft way, to see if that actually helps,\u201d says Sullivan.<\/p>\n

Media contact:\u00a0<\/em>Kendall Daniels<\/em><\/a>, Communications Specialist, UNC Health | UNC School of Medicine<\/em><\/p>\n

This article originally appeared in the UNC Health Newsroom<\/a>.<\/p>\n","protected":false},"excerpt":{"rendered":"

UNC School of Medicine\u2019s Patrick Sullivan, MD, FRANZCP, and a team of scientists in the Psychiatric Genetic Consortium have created a new manual researchers can use to learn more about the origins of human diseases with high genetic risk.<\/p>\n","protected":false},"author":28418,"featured_media":2956,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":"","_links_to":"","_links_to_target":""},"categories":[2],"tags":[55],"class_list":["post-12817","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-news","tag-sullivan","odd"],"acf":[],"yoast_head":"\nMammalian Evolution Provides Hints for Understanding the Origins of Human Disease | Department of Genetics<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" 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