Led by Zhiping Weng, PhD, the Li Weibo Chair in Biomedical Research, professor of biochemistry & molecular pharmacology and director of the Program in Bioinformatics & Integrative Biology, scientists showed that regulatory elements outside the protein coding areas of the genome are highly heritable, deeply conserved and are significantly enriched in genetic variants associated with complex, multi-factorial human traits, thus highlighting their importance in the functional interpretation of human genetic variation. In one study from researchers at UMass Chan, Morningside Graduate School of Biomedical Sciences PhD student Gregory Andrews and alum Kaili Fan, PhD’22, along with MD/PhD student Henry Pratt, utilized a variety of methods, including evolutionary conservation and epigenomic data, to identify conserved regulatory elements in the human genome. ![]() More than 150 people across seven time zones have contributed to the Zoonomia Project, which is the largest comparative mammalian genomics resource in the world. “And we’re excited to see how we and other researchers can work with this data in new ways to understand both genome evolution and human disease.” “We’re very enthusiastic about sequencing mammalian species,” said Lindblad-Toh, scientific director of vertebrate genomics at the Broad. Lindblad-Toh and the researchers who have been sequencing mammalian genomes for Zoonomia or its precursor projects since 2005, these studies-and the breadth of questions they answer-are only a fraction of what is possible. The findings come from analyses of DNA samples collected by more than 50 institutions worldwide, including many from the San Diego Zoo, which provided genomes from species that are threatened or endangered.įor Karlsson, Dr. Karlsson, who is also director of the vertebrate genomics group at the Broad Institute of MIT and Harvard. And they pinpointed species that may be particularly susceptible to extinction, as well as genetic variants that are more likely to play causal roles in rare and common human diseases, according to Dr. They also found part of the genetic basis for uncommon mammalian traits such as the ability to hibernate or sniff out faint scents from miles away. Investigators identified regions of the genomes that are most unchanged (conserved) across mammalian species and millions of years of evolution-regions that are likely biologically important. Scientists with the Zoonomia Project have been cataloging the diversity in mammalian genomes by comparing DNA sequences from 240 species that exist today, from the aardvark and the African savanna elephant to the yellow-spotted rock hyrax and the zebu. Over the past 100 million years, mammals have adapted to nearly every environment on Earth. “This package of papers really shows the range of what you can do with this kind of data, and how much we can learn from studying the genomes of other mammals.” “One of the biggest problems in genomics is that humans have a really big genome, and we don’t know what all of it does,” said Elinor Karlsson, PhD, associate professor of molecular medicine at UMass Chan Medical School and co-leader of the Zoonomia Project with Kerstin Lindblad-Toh, PhD, professor of comparative genomics at Uppsala University in Sweden. ![]() The Zoonomia Project, published in 13 studies in Science this week, is using comparative genomics to shed light on how certain species achieve extraordinary feats, and to better understand parts of the human genome and how they might influence health and disease.
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