Fragile bones of modern humans result from reduced physical activity

 

By A'ndrea Elyse Messer December 22, 2014 UNIVERSITY PARK, Pa. -- The comparatively light bone structure of modern humans compared to early human species and other modern primates may be due to the modern abandonment of the constant physical activity that was inherent in the life of early hunter gathers, according to an international team of researchers. This knowledge may aid in prevention of osteoporosis and hip fracture in the elderly. "We set out to test three potential explanations for modern human gracility and any one of them would have been interesting," said Timothy M. Ryan, associate professor of anthropology and information science and technology, Penn State. "What we found was the most interesting." The most plausible explanation, he said, is that a lack of constant physical activity causes the bone in the head of the femur -- the long bone in the thigh -- to become thinner and lighter than that found in more mobile populations or modern primates such as chimpanzees, gorillas and orangutans. The other two possible explanations, that humans and nonhuman primates have different bone structure because of genetics, with humans evolving to a lighter, more gracile structure, or that the large joint surfaces required for upright, two-legged movement decrease the strain on bone and therefore the development of strong bones, do not appear to be true. Go to video Ancient hunters show better bone robustness over farmers of the same era It has been proven that there are many similarities in the bone structures of early humans and primates. Over time, the skeletal frames of humans have become noticeably more frail than our primate relatives and many researchers seek to find out why. Dr. Timothy Ryan, a biological anthropologist, is examining ancient bones of foragers and farmers in hopes of explaining the disparity. Ryan, working with Colin N. Shaw of the University of Cambridge, UK, looked at the hip joint to determine which of the three possible explanations was likely. They compared these joints in samples from foraging populations, early agriculturalists and comparably sized nonhuman primates. The human bones came from two agricultural groups and two foraging groups that once lived in what is now Illinois. The nonhuman bones came mostly from wild specimens in collections. The researchers used noninvasive microcomputed tomography to scan the hip joint ends of the femurs. In all, the study included 59 adult humans and 229 nonhuman primates. Ryan and Shaw compared the trabecular bone -- the honeycomb-like bone that fills joint ends -- among the three groups. "The results of the present study indicate that human populations with divergent activity patterns display significantly different trabecular bone structural characteristics in the proximal femur," the researchers report online today (Dec 22) in the Proceedings of the National Academy of Sciences. The researchers found that the agriculturalists had significantly lower bone mass than the foragers. However, the bone characteristics of the more mobile foragers overlapped with those of the nonhuman primates. "There are other things that could account for some of the differences between early agriculturalists and foragers," said Ryan. "The amount of cultivated grains in the diet of the agriculturalists, in this case maize, as well as possible deficiencies in dietary calcium may also contribute to lower bone mass. It does seem, however, that the biomechanical aspects of foraging play a large part." "The findings of the present study have significant implications for understanding human skeletal form and its relationship to age-related bone loss in contemporary human populations," the researchers report. "We need to understand the difference in bone structure caused by diet, behavior and evolution," said Ryan. "However, I think the key appears to be higher physical activity and mobility from a very young age that makes the bones of nonhuman primates and human foragers stronger." The National Science Foundation supported this work. origin of this article : PennState News

A clear, molecular view of how human color vision evolved

 

Mountain Gorilla - Bwindi Uganda. “Gorillas and chimpanzees have human color vision,” Yokoyama says. “Or perhaps we should say that humans have gorilla and chimpanzee vision.” Many genetic mutations in visual pigments, spread over millions of years, were required for humans to evolve from a primitive mammal with a dim, shadowy view of the world into a greater ape able to see all the colors in a rainbow. Now, after more than two decades of painstaking research, scientists have finished a detailed and complete picture of the evolution of human color vision. PLOS Genetics published the final pieces of this picture: The process for how humans switched from ultraviolet (UV) vision to violet vision, or the ability to see blue light. "We have now traced all of the evolutionary pathways, going back 90 million years, that led to human color vision," says lead author Shozo Yokoyama, a biologist at Emory University. "We've clarified these molecular pathways at the chemical level, the genetic level and the functional level." Co-authors of the PLOS Genetics paper include Emory biologists Jinyi Xing, Yang Liu and Davide Faggionato; Syracuse University biologist William Starmer; and Ahmet Altun, a chemist and former post-doc at Emory who is now at Fatih University in Istanbul, Turkey. Yokoyama and various collaborators over the years have teased out secrets of the adaptive evolution of vision in humans and other vertebrates by studying ancestral molecules. The lengthy process involves first estimating and synthesizing ancestral proteins and pigments of a species, then conducting experiments on them. The technique combines microbiology with theoretical computation, biophysics, quantum chemistry and genetic engineering. Five classes of opsin genes encode visual pigments for dim-light and color vision. Bits and pieces of the opsin genes change and vision adapts as the environment of a species changes. Around 90 million years ago, our primitive mammalian ancestors were nocturnal and had UV-sensitive and red-sensitive color, giving them a bi-chromatic view of the world. By around 30 million years ago, our ancestors had evolved four classes of opsin genes, giving them the ability to see the full-color spectrum of visible light, except for UV. "Gorillas and chimpanzees have human color vision," Yokoyama says. "Or perhaps we should say that humans have gorilla and chimpanzee vision." For the PLOS Genetics paper, the researchers focused on the seven genetic mutations involved in losing UV vision and achieving the current function of a blue-sensitive pigment. They traced this progression from 90-to-30 million years ago. The researchers identified 5,040 possible pathways for the amino acid changes required to bring about the genetic changes. "We did experiments for every one of these 5,040 possibilities," Yokoyama says. "We found that of the seven genetic changes required, each of them individually has no effect. It is only when several of the changes combine in a particular order that the evolutionary pathway can be completed." In other words, just as an animal's external environment drives natural selection, so do changes in the animal's molecular environment. In previous research, Yokoyama showed how the scabbardfish, which today spends much of its life at depths of 25 to 100 meters, needed just one genetic mutation to switch from UV to blue-light vision. Human ancestors, however, needed seven changes and these changes were spread over millions of years. "The evolution for our ancestors' vision was very slow, compared to this fish, probably because their environment changed much more slowly," Yokoyama says. About 80 percent of the 5,040 pathways the researchers traced stopped in the middle, because a protein became non-functional. Chemist Ahmet Altun solved the mystery of why the protein got knocked out. It needs water to function, and if one mutation occurs before the other, it blocks the two water channels extending through the vision pigment's membrane. "The remaining 20 percent of the pathways remained possible pathways, but our ancestors used only one," Yokoyama says. "We identified that path." In 1990, Yokoyama identified the three specific amino acid changes that led to human ancestors developing a green-sensitive pigment. In 2008, he led an effort to construct the most extensive evolutionary tree for dim-light vision, including animals from eels to humans. At key branches of the tree, Yokoyama's lab engineered ancestral gene functions, in order to connect changes in the living environment to the molecular changes. The PLOS Genetics paper completes the project for the evolution of human color vision. "We have no more ambiguities, down to the level of the expression of amino acids, for the mechanisms involved in this evolutionary pathway," Yokoyama says.

Human faces are so variable because we evolved to look unique

 

Our highly visual social interactions are almost certainly the driver of this evolutionary trend, said behavioral ecologist Michael J. Sheehan, a postdoctoral fellow in UC Berkeley's Museum of Vertebrate Zoology. Many animals use smell or vocalization to identify individuals, making distinctive facial features unimportant, especially for animals that roam after dark, he said. But humans are different.

"Humans are phenomenally good at recognizing faces; there is a part of the brain specialized for that," Sheehan said. "Our study now shows that humans have been selected to be unique and easily recognizable. It is clearly beneficial for me to recognize others, but also beneficial for me to be recognizable. Otherwise, we would all look more similar."

"The idea that social interaction may have facilitated or led to selection for us to be individually recognizable implies that human social structure has driven the evolution of how we look," said coauthor Michael Nachman, a population geneticist, professor of integrative biology and director of the UC Berkeley Museum of Vertebrate Zoology.

The study will appear Sept. 16 in the online journal Nature Communications.

In the study, Sheehan said, "we asked, 'Are traits such as distance between the eyes or width of the nose variable just by chance, or has there been evolutionary selection to be more variable than they would be otherwise; more distinctive and more unique?'"

As predicted, the researchers found that facial traits are much more variable than other bodily traits, such as the length of the hand, and that facial traits are independent of other facial traits, unlike most body measures. People with longer arms, for example, typically have longer legs, while people with wider noses or widely spaced eyes don't have longer noses. Both findings suggest that facial variation has been enhanced through evolution.

Finally, they compared the genomes of people from around the world and found more genetic variation in the genomic regions that control facial characteristics than in other areas of the genome, a sign that variation is evolutionarily advantageous.

"All three predictions were met: facial traits are more variable and less correlated than other traits, and the genes that underlie them show higher levels of variation," Nachman said. "Lots of regions of the genome contribute to facial features, so you would expect the genetic variation to be subtle, and it is. But it is consistent and statistically significant."

Using Army data

Sheehan was able to assess human facial variability thanks to a U.S. Army database of body measurements compiled from male and female personnel in 1988. The Army Anthropometric Survey (ANSUR) data are used to design and size everything from uniforms and protective clothing to vehicles and workstations.

A statistical comparison of facial traits of European Americans and African Americans -- forehead-chin distance, ear height, nose width and distance between pupils, for example -- with other body traits -- forearm length, height at waist, etc. -- showed that facial traits are, on average, more varied than the others. The most variable traits are situated within the triangle of the eyes, mouth and nose.

Sheehan and Nachman also had access to data collected by the 1000 Genome project, which has sequenced more than 1,000 human genomes since 2008 and catalogued nearly 40 million genetic variations among humans worldwide. Looking at regions of the human genome that have been identified as determining the shape of the face, they found a much higher number of variants than for traits, such as height, not involving the face.

Prehistoric origins

"Genetic variation tends to be weeded out by natural selection in the case of traits that are essential to survival," Nachman said. "Here it is the opposite; selection is maintaining variation. All of this is consistent with the idea that there has been selection for variation to facilitate recognition of individuals."

They also compared the human genomes with recently sequenced genomes of Neanderthals and Denisovans and found similar genetic variation, which indicates that the facial variation in modern humans must have originated prior to the split between these different lineages.

"Clearly, we recognize people by many traits -- for example their height or their gait -- but our findings argue that the face is the predominant way we recognize people," Sheehan said.

In human evolution, changes in skin's barrier set northern Europeans apart

 

June 30, 2014

University of California, San Francisco (UCSF)

The popular idea that northern Europeans developed light skin to absorb more UV light so they could make more vitamin D -- vital for healthy bones and immune function -- is questioned by researchers in a new study. Ramping up the skin’s capacity to capture UV light to make vitamin D is indeed important, however, researchers concluded in their study that changes in the skin’s function as a barrier to the elements made a greater contribution than alterations in skin pigment in the ability of northern Europeans to make vitamin D.

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The Elias lab has shown that pigmented skin provides a better skin barrier, which was critically important for protection against dehydration and infections among ancestral humans living in sub-Saharan Africa. But the need for pigment to provide this extra protection waned as modern human populations migrated northward over the past 60,000 years or so, while the need to absorb UVB light became greater, particularly for those humans who migrated to the far North behind retreating glaciers less than 10,000 years ago.

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The popular idea that Northern Europeans developed light skin to absorb more UV light so they could make more vitamin D – vital for healthy bones and immune function – is questioned by UC San Francisco researchers in a new study published online in the journal Evolutionary Biology.

Ramping up the skin’s capacity to capture UV light to make vitamin D is indeed important, according to a team led by Peter Elias, MD, a UCSF professor of dermatology. However, Elias and colleagues concluded in their study that changes in the skin’s function as a barrier to the elements made a greater contribution than alterations in skin pigment in the ability of Northern Europeans to make vitamin D.

Elias’ team concluded that genetic mutations compromising the skin’s ability to serve as a barrier allowed fair-skinned Northern Europeans to populate latitudes where too little ultraviolet B (UVB) light for vitamin D production penetrates the atmosphere.

Among scientists studying human evolution, it has been almost universally assumed that the need to make more vitamin D at Northern latitudes drove genetic mutations that reduce production of the pigment melanin, the main determinant of skin tone, according to Elias.

“At the higher latitudes of Great Britain, Scandinavia and the Baltic States, as well as Northern Germany and France, very little UVB light reaches the Earth, and it’s the key wavelength required by the skin for vitamin D generation,” Elias said.

“While is seems logical that the loss of the pigment melanin would serve as a compensatory mechanism, allowing for more irradiation of the skin surface and therefore more vitamin D production, this hypothesis is flawed for many reasons,” he continued. “For example, recent studies show that dark-skinned humans make vitamin D after sun exposure as efficiently as lightly-pigmented humans, and osteoporosis – which can be a sign of vitamin D deficiency – is less common, rather than more common, in darkly-pigmented humans.”

Furthermore, evidence for a south to north gradient in the prevalence of melanin mutations is weaker than for this alternative explanation explored by Elias and colleagues.

In earlier research, Elias began studying the role of skin as a barrier to water loss. He recently has focused on a specific skin-barrier protein called filaggrin, which is broken down into a molecule called urocanic acid – the most potent absorber of UVB light in the skin, according to Elias. “It’s certainly more important than melanin in lightly-pigmented skin,” he said.

In their new study, the researchers identified a strikingly higher prevalence of inborn mutations in the filaggrin gene among Northern European populations. Up to 10 percent of normal individuals carried mutations in the filaggrin gene in these northern nations, in contrast to much lower mutation rates in southern European, Asian and African populations.

Moreover, higher filaggrin mutation rates, which result in a loss of urocanic acid, correlated with higher vitamin D levels in the blood. Latitude-dependent variations in melanin genes are not similarly associated with vitamin D levels, according to Elias. This evidence suggests that changes in the skin barrier played a role in Northern European’s evolutionary adaptation to Northern latitudes, the study concluded.

Yet, there was an evolutionary tradeoff for these barrier-weakening filaggrin mutations, Elias said. Mutation bearers have a tendency for very dry skin, and are vulnerable to atopic dermatitis, asthma and food allergies. But these diseases have appeared only recently, and did not become a problem until humans began to live in densely populated urban environments, Elias said.

The Elias lab has shown that pigmented skin provides a better skin barrier, which he says was critically important for protection against dehydration and infections among ancestral humans living in sub-Saharan Africa. But the need for pigment to provide this extra protection waned as modern human populations migrated northward over the past 60,000 years or so, Elias said, while the need to absorb UVB light became greater, particularly for those humans who migrated to the far North behind retreating glaciers less than 10,000 years ago.

The data from the new study do not explain why Northern Europeans lost melanin. If the need to make more vitamin D did not drive pigment loss, what did? Elias speculates that, “Once human populations migrated northward, away from the tropical onslaught of UVB, pigment was gradually lost in service of metabolic conservation. The body will not waste precious energy and proteins to make proteins that it no longer needs.”

For the Evolutionary Biology study, labeled a “synthesis paper” by the journal, Elias and co-author Jacob P. Thyssen, MD, a professor at the University of Copenhagen, mapped the mutation data and measured the correlations with blood levels of vitamin D. Labs throughout the world identified the mutations. Daniel Bikle, MD, PhD, a UCSF professor of medicine, provided expertise on vitamin D metabolism.

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Story Source:

The above story is based on materials provided by University of California, San Francisco (UCSF). The original article was written by Jeffrey Norris. Note: Materials may be edited for content and length.

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Journal Reference:

1. Jacob P. Thyssen, Daniel D. Bikle, Peter M. Elias. Evidence That Loss-of-Function Filaggrin Gene Mutations Evolved in Northern Europeans to Favor Intracutaneous Vitamin D3 Production. Evolutionary Biology, 2014; DOI: 10.1007/s11692-014-9282-7