NSF Research News

Genetics publishes paper by Taskent and Gokcumen on Haplotypic Variation & Deletion Polymorphisms

Genetics, published by the Genetics Society of America, contains a paper co-authored by UB alum Ozgur Taskent, a recent PhD graduate, and Omer Gokcumen,Associate Professor, Department of Biological Sciences. The work presents a comprehensive analysis of the unusually divergent haplotypes in the Eurasian genomes and showed that they can be traced back to multiple introgression events. Funded by the U.S. National Science Foundation, the research reinforces the concept that Neanderthal DNA has been woven into the modern human genome on multiple occasions as our ancestors met Neanderthals time and again in different parts of the world. Read the news article by Charlotte Hsu.

In 2019, Ozgur Taskent successfully defended his PhD thesis, "A Genetic Record of Admixture Between Humans and Ancient Hominins”, with Dr. Gokcumen serving as his advisor. 

GENETICS is a scholarly society that seeks to deepen our understanding of the living world by advancing our understanding of genetics. Since 1916, GENETICS has published original research presenting novel findings bearing on genetics and genomics. The journal publishes empirical studies of organisms ranging from microbes to humans, as well as theoretical work.

UB Now.
Ozgur Taskent, PhD.

Ozgur Taskent, PhD

Omer Gokumen.

Omer Gokcumen, PhD

Research News

Modern humans, Neanderthals share a tangled genetic history, study affirms

DNA strand.

Results of a new story reinforce the concept that Neanderthal DNA has been woven into the modern human genome on multiple occasions as our ancestors met Neanderthals time and again in different parts of the world.

By CHARLOTTE HSU

Published April 3, 2020

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headshot of Omer Gokcumen.
“It’s not a single introgression of genetic material from Neanderthals. It’s just this spider web of interactions that happen over and over again, where different ancient hominins are interacting with each other, and our paper is adding to this picture. ”
Omer Gokcumen, associate professor
Department of Biological Sciences

In recent years, scientists have uncovered evidence that modern humans and Neanderthals share a tangled past. In the course of human history, these two species of hominins interbred not just once, but at multiple times, the thinking goes.

A new study supports this notion, finding that people in Eurasia today have genetic material linked to Neanderthals from the Altai mountains in modern-day Siberia. This is noteworthy because past research has shown that Neanderthals connected to a different, distant location — the Vindija Cave in modern-day Croatia — have also contributed DNA to modern-day Eurasian populations.

The results reinforce the concept that Neanderthal DNA has been woven into the modern human genome on multiple occasions as our ancestors met Neanderthals time and again in different parts of the world.

The study was published on March 31 in the journal Genetics.

“It’s not a single introgression of genetic material from Neanderthals,” says lead researcher Omer Gokcumen, a UB biologist. “It’s just this spider web of interactions that happen over and over again, where different ancient hominins are interacting with each other, and our paper is adding to this picture. This project will now add to an emerging chorus — we’ve been looking into this phenomenon for a couple of years, and there are a couple of papers that came out recently that deal with similar concepts.

“The picture in my mind now is we have all these archaic hominin populations in Europe, in Asia, in Siberia, in Africa,” Gokcumen says. “For one reason or another, the ancestors of modern humans in Africa start expanding in population, and as they expand their range, they meet with these other hominins and absorb their DNA, if you will. We probably met different Neanderthal populations at different times in our expansion into other parts of the globe.”

Gokcumen, associate professor of biological sciences, College of Arts and Sciences, led the study with first author Recep Ozgur Taskent, a recent UB PhD graduate in the department. Co-authors include UB PhD graduate Yen Lung Lin, now a postdoctoral scholar at the University of Chicago, and Ioannis Patramanis and Pavlos Pavlidis of the Foundation for Research and Technology in Greece.

The research was funded by the U.S. National Science Foundation.

To complete the project, scientists analyzed the DNA of hundreds of people of Eurasian ancestry. The goal was to hunt for fragments of genetic material that may have been inherited from Neanderthals.

This research found that the Eurasian populations studied could trace some genetic material back to two different Neanderthal lineages: one represented by a Neanderthal whose remains were discovered in the Vindija cave in Croatia, and another represented by a Neanderthal whose remains were discovered in the Altai mountains in Russia.

Scientists also discovered that the modern-day populations they studied also share genetic deletions — areas of DNA that are missing — with both the Vindija and Altai Neanderthal lineages.

The DNA of the Vindija and Altai Neanderthals, along with the modern human populations studied, were previously sequenced by different research teams.

“It seems like the story of human evolution is not so much like a tree with branches that just grow in different directions. It turns out that the branches have all these connections between them,” Gokcumen says. “We are figuring out these connections, which is really exciting. The story is not as neat as it was before. Every single ancient genome that is sequenced seems to create a completely new perspective in our understanding of human evolution, and every new genome that’s sequenced in the future may completely change the story again.”

Faculty Profile

Omer Gokcumen

PhD

Omer Gokcumen.

Omer Gokcumen

PhD

Omer Gokcumen

PhD

Associate Professor
Distinguished Postdoc Mentor Award, 2019

Research Interests

Human and primate evolution, ancient humans (including Neanderthals and Denisovans), anthropological genomics

Contact Information

H532 Hochstetter Hall

Buffalo NY, 14260

Phone: (716) 645-4937

omergokc@buffalo.edu

Education

  • PhD, University of Pennsylvania
  • Postdoctoral Research, Harvard Medical School

Research Statement

Omer Gokcumen is an expert in evolutionary anthropology — the study of how humans evolved and how they differ from non-human primates such as gorillas and chimpanzees. His work is tied to human evolution, including evolutionary adaptation and the evolutionary processes that lead to genetic disease.

Gokcumen’s research examines the role that genomic variants, especially deletions and duplications, play in human disease and biology. His laboratory investigates the evolutionary history of genetic variations tied to interesting traits and diseases in modern and ancient human populations.

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Selected Publications