Neanderthal DNA Shapes Human Nose Neuroscience News

Summary: A specific gene inherited from Neanderthals may be responsible for the shape of our noses.

The study suggests that the shape of our noses may have evolved through natural selection in response to the different climates and environments our ancestors encountered as they migrated around the world.

The research highlights the importance of understanding the genetic diversity of different populations to better understand the evolution of human traits.

Key Facts:

1. The researchers used data from over 6,000 volunteers across Latin America, of mixed European, Native American and African ancestry, to study the genetic influence on facial features.
2. They identified 33 genome regions associated with facial shape, of which 26 were able to replicate in comparison with data from other ethnicities using participants in East Asia, Europe or Africa.
3. In a particular genome region called ATF3, many people in the study of Native American descent had genetic material in this gene inherited from Neanderthals, which contributed to increased nasal height. This gene region has evidence of natural selection, suggesting that it conferred an advantage on those who carry the genetic material.

Source: UCL

Humans inherited genetic material from Neanderthals that affects the shape of our noses, finds a new study led by UCL researchers.

The new Communication biology the study finds that a particular gene, which leads to a taller nose (from top to bottom), may have been the product of natural selection as ancient humans adapted to colder climates after leaving Africa.

Co-author Dr Kaustubh Adhikari (UCL Genetics, Evolution & Environment and The Open University) said: “In the last 15 years, since the Neanderthal genome has been sequenced, we have been able to learn that our own ancestors apparently interbred with Neanderthals, leaving us with small pieces of their DNA.

“Here we find that some DNA inherited from Neanderthals affects the shape of our faces. This could have been helpful to our ancestors, as it has been passed down for thousands of generations.”

The study used data from more than 6,000 volunteers across Latin America, of mixed European, Native American and African descent, who are part of the UCL-led CANDELA study, who were recruited from Brazil, Colombia, Chile, Mexico and Peru.

The researchers compared genetic information from the participants to photographs of their faces – specifically looking at the distances between points on their faces, such as the tip of the nose or the edge of the lips – to see how different facial features were associated with the presence of different genetic markers.

The researchers recently identified 33 genome regions associated with facial shape, of which 26 were able to replicate in comparison with data from other ethnicities using participants in East Asia, Europe or Africa.

In one genome region in particular, called ATF3the researchers found that many people in their study of Native American ancestry (as well as others of East Asian ancestry from another cohort) had genetic material in this gene inherited from Neanderthals, which contributed to increased nasal height.

They also found that this gene region has signs of natural selection, suggesting that it conferred an advantage on those who carry the genetic material.

First author Dr Qing Li (Fudan University) said: “It has long been speculated that the shape of our noses is determined by natural selection; since our noses can help us regulate the temperature and humidity of the air we breathe, differently shaped noses may be better suited to different climates in which our ancestors lived.

“The gene we have identified here may have been inherited from Neanderthals to help humans adapt to colder climates when our ancestors moved out of Africa.”

Co-author Professor Andres Ruiz-Linares (Fudan University, UCL Genetics, Evolution & Environment and Aix-Marseille University) added: “Most genetic studies of human diversity have examined the genes of Europeans; our study’s diverse sample of Latin American participants broadens the scope of genetic study results , which helps us better understand the genetics of all humans.”

The finding is the second discovery of DNA from archaic humans, separate from Homo sapiens, that influences our facial shape. The same team discovered in a 2021 paper that a gene affecting lip shape was inherited from the ancient Denisovans.*

The study involved researchers based in the UK, China, France, Argentina, Chile, Peru, Colombia, Mexico, Germany and Brazil.

Author: Chris Lane
Source: UCL
Contact: Chris Lane – UCL
Picture: Image credited to Dr Kaustubh Adhikari, UCL

Original research: Free access.
“Automatic landmarking identifies novel loci associated with facial morphology and implicates Neanderthal introgression in human nose shape” by Kaustubh Adhikari et al. Communication biology

Abstract

Automatic landmarking identifies novel loci associated with facial morphology and implicates Neanderthal introgression in human nose shape

We report a genome-wide association study of facial features in > 6000 Hispanics based on automatic landmarking of 2D portraits and testing for association with distance between landmarks. We detected significant associations (P value <5 × 10⁻⁸) at 42 genomic regions, nine of which have been previously reported.

In follow-up analyses, 26 of the 33 novel regions replicate in East Asians, Europeans, or Africans, and a homologous region in mouse affects craniofacial morphology in mice.

The new region in 1q32.3 shows introgression from Neanderthals and we find that the introgressed region increases nasal height (consistent with differentiation between Neanderthals and modern humans).

Novel regions include candidate genes and regulatory elements previously implicated in craniofacial development, and show preferential transcription in cranial neural crest cells.

The automated approach used here should simplify the collection of large study samples from around the world, facilitating a cosmopolitan characterization of the genetics of facial features.