A new study published November 20 in the open-access journal PLOS Biology has identified hundreds of small regions of the genome that appear to be uniquely regulated in human neurons. These regulatory differences distinguish us from other primates, including monkeys and apes, and as neurons are at the core of our unique cognitive abilities, these features may ultimately hold the key to our intellectual prowess (and also to our potential vulnerability to a wide range of ‘human-specific’ diseases from autism to Alzheimer’s).
Exploring which features in the genome separate human neurons from their non-human counterparts has been a challenging task until recently; primate genomes comprise billions of base pairs (the basic building blocks of DNA), and comparisons between the human and chimpanzee genomes alone reveal close to 40 million differences. Most of these are thought to merely reflect random ‘genetic drift’ during the course of evolution, so the challenge was to identify the small set of changes that have functionally important consequences, as these might help to explain the genomic basis of the emergence of human-specific neuronal function.
The key to the present study, led by Dr Schahram Akbarian of the University of Massachusetts and the Mount Sinai School of Medicine, was not to focus on the “letters” of the DNA code, but rather on what might be called its “font” or “typeface”—the DNA strands of the genome are wrapped in protein to make a chromatin fiber, and the way in which they are wrapped, the “chromatin state”, in turn reflects the regulatory state of that region of the genome (e.g. whether a given gene is turned on or off). This is the field that biologists call “epigenetics”—the study of the “epigenome”.
Dr Akbarian and colleagues set out to isolate small snippets of chromatin fibers from the frontal cortex, a brain region involved in complex cognitive operations. They were then able to analyze these snippets for the chemical signals (histone methylation) that define the regulatory state (on/off) of the chromatin. The results of their analysis identified hundreds of regions throughout the genome which showed a markedly different chromatin structure in neurons from human children and adults, compared to chimpanzees and macaques.
This treasure trove of short genomic regions is now providing researchers with interesting new leads involving the evolution of the human brain. Although some of the regions have remained unchanged during primate evolution, some more tantalizing ones have recently changed, having a DNA sequence that is unique to humans and our close extinct relatives, the Neanderthals and the Denisovans.
The study also uncovered examples where several of these regulatory DNA regions appear to physically interact with each other inside the cell nucleus, despite being separated by hundreds of thousands of base pairs on the linear genome. This phenomenon of “chromatin looping” is implicated in controlling the expression of neighboring genes, including several with a critical role for human brain development. The study, from laboratories based in the United States, Switzerland and Russia, draws further attention to the role of epigenetics and the epigenome in our biology and our evolution. As Dr Akbarian notes, “Much about human biology and disease cannot be deduced by simply sequencing the genome. Mapping the epigenome of neurons and other cells will help us to better understand the inner workings of our brain, and where we are coming from.”
(Source: medicalxpress.com)
Filed under neuronal function genome chromatin fiber frontal cortex evolution neuroscience science
Primate Behavior May Reveal Clues to Evolution of Favor Exchange in Humans
When your neighbor asks to borrow a cup of sugar and you readily comply, is your positive response a function of the give and take that characterize your longstanding relationship? Or does it represent payment –– or prepayment –– for the cup of sugar you borrowed last week, or may need to borrow a month from now?
Adrian Jaeggi, a postdoctoral researcher in anthropology at UC Santa Barbara, and a junior research fellow at the campus’s SAGE Center for the Study of the Mind, is studying this question of reciprocity, using chimpanzees and bonobos as his test subjects. His findings appear in the current online issue of the journal Evolution & Human Behavior.
"The article focuses on the question of whether individuals do favors because they expect them to be reciprocated at some other time, and, more specifically, whether such exchanges have to happen immediately, or can take place over longer time spans," Jaeggi explained. "We studied the question in chimpanzees and bonobos –– our two closest living relatives –– and looked at the exchanges of grooming and food sharing, which are two common types of favors among these apes."
According to Jaeggi, while results of his research provide some evidence for immediate exchanges, they more strongly support the notion that favors are exchanged over long periods of time. Calculated exchanges, in which individuals keep a detailed score of past interactions, are much less common than the more loosely balanced exchanges that take place in stable relationships.
Filed under primates favor exchange evolution neuroscience psychology science
Linguistics as a Window to Understanding the Brain
How did humans acquire language? In this lecture, best-selling author Steven Pinker introduces you to linguistics, the evolution of spoken language, and the debate over the existence of an innate universal grammar.
He also explores why language is such a fundamental part of social relationships, human biology, and human evolution.
Finally, Pinker touches on the wide variety of applications for linguistics, from improving how we teach reading and writing to how we interpret law, politics, and literature.
Filed under Steven Pinker linguistics language language acquisition language production communication evolution psychology neuroscience science
Super-sensory hearing?
The discovery of a previously unidentified hearing organ in the South American bushcrickets’ ear could pave the way for technological advancements in bio-inspired acoustic sensors research, including medical imaging and hearing aid development.
Researchers from the University of Bristol and University of Lincoln discovered the missing piece of the jigsaw in the understanding of the process of energy transformation in the ‘unconventional’ ears of the bushcrickets (or katydids).
Bushcrickets have four tympana (or ear drums) – two on each foreleg; but until now it has been unknown how the various organs connect in order for the insect to hear. As the tympana (a membrane which vibrates in reaction to sound) does not directly connect with the mechanoreceptors (sensory receptors), it was a mystery how sound was transmitted from air to the mechano-sensory cells.
Sponsored by the Human Frontiers Science Program (HFSP), the research was developed in the lab of Professor Daniel Robert, a Royal Society Fellow at the University of Bristol. Dr Fernando Montealegre-Z, who is now at the University of Lincoln’s School of Life Sciences, discovered a newly identified organ while carrying out research into how the bushcricket tubing system in the ear transports sound. The research focussed on the bushcricket Copiphora gorgonensis, a neotropical species from the National Park Gorgona in Colombia, an island in the Pacific. Results suggest that the bushcricket ear operates in a manner analogous to that of mammals. A paper detailing this remarkable new breakthrough is published in the journal, Science.
Filed under hearing sensory cells bushcricket katydids sound mammals evolution neuroscience science
Scientists have taken a step forward in helping to solve one of life’s greatest mysteries - what makes us human?

Image: Irish Wildcat
An international team of researchers have discovered a new gene that helps explain how humans evolved from apes. Scientists say the gene - calledmiR-941 - appears to have played a crucial role in human brain development and may shed light on how we learned to use tools and language. Researchers say it is the first time that a new gene - carried only by humans and not by apes - has been shown to have a specific function within the human body.
Unique finding
A team at the University of Edinburgh compared the human genome to 11 other species of mammals, including chimpanzees, gorillas, mouse and rat, to find the differences between them. The results, published in Nature Communications, showed that the gene - miR-941 - is unique to humans. The researchers say that it emerged between six and one million years ago, after humans had evolved from apes. The gene is highly active in two areas of the brain that control our decision making and language abilities. The study suggests it could have a role in the advanced brain functions that make us human.
Startling results
It is known that most differences between species occur as a result of changes to existing genes, or the duplication and deletion of genes. But scientists say this gene emerged fully functional out of non-coding genetic material, previously termed “junk DNA”, in a startlingly brief interval of evolutionary time. Until now, it has been remarkably difficult to see this process in action. Researcher Dr Martin Taylor, who led the study at the Institute of Genetics and Molecular Medicine at the University of Edinburgh, said the results were fascinating.
This new molecule sprang from nowhere at a time when our species was undergoing dramatic changes: living longer, walking upright, learning how to use tools and how to communicate. We’re now hopeful that we will find more new genes that help show what makes us human. -Dr Martin Taylor (Programme leader, Biomedical Systems Analysis)
(Source: ed.ac.uk)
Filed under brain brain development genes genetics genomics miR-941 evolution neuroscience science
A Blind Circadian Clock in Cavefish Reveals that Opsins Mediate Peripheral Clock Photoreception
The circadian clock is synchronized with the day-night cycle primarily by light. Fish represent fascinating models for deciphering the light input pathway to the vertebrate clock since fish cell clocks are regulated by direct light exposure. Here we have performed a comparative, functional analysis of the circadian clock involving the zebrafish that is normally exposed to the day-night cycle and a cavefish species that has evolved in perpetual darkness. Our results reveal that the cavefish retains a food-entrainable clock that oscillates with an infradian period. Importantly, however, this clock is not regulated by light. This comparative study pinpoints the two extra-retinal photoreceptors Melanopsin (Opn4m2) and TMT-opsin as essential upstream elements of the peripheral clock light input pathway.
Filed under blind cave fish circadian rhythms evolution zebrafish neuroscience science
Research suggests that humans are slowly but surely losing intellectual and emotional abilities
Human intelligence and behavior require optimal functioning of a large number of genes, which requires enormous evolutionary pressures to maintain. A provocative hypothesis published in a recent set of Science and Society pieces published in the Cell Press journal Trends in Genetics (1, 2) suggests that we are losing our intellectual and emotional capabilities because the intricate web of genes endowing us with our brain power is particularly susceptible to mutations and that these mutations are not being selected against in our modern society.
"The development of our intellectual abilities and the optimization of thousands of intelligence genes probably occurred in relatively non-verbal, dispersed groups of peoples before our ancestors emerged from Africa," says the papers’ author, Dr. Gerald Crabtree, of Stanford University. In this environment, intelligence was critical for survival, and there was likely to be immense selective pressure acting on the genes required for intellectual development, leading to a peak in human intelligence.
Filed under brain intelligence evolution genetics mutations neuroscience science
OneZoom: A Fractal Explorer for the Tree of Life
Our knowledge of the tree of life—a phylogenetic tree summarizing the evolutionary relationships among all life on Earth—is expanding rapidly. “Mega-trees” with millions of tips (species) are expected to appear imminently (for example, see http://www.opentree.wikispaces.com). Unfortunately, there has so far been no practical and intuitive way to explore even the much smaller trees with thousands of tips that are now being routinely produced. Without a way to view megatrees, these wondrous objects, representing the culmination of decades of scientific effort, cannot be fully appreciated. The field really needs a solution to this problem to enable scientists to communicate important evolutionary concepts and data effectively, both to each other and to the general public.
Just like Google Earth changed the way people look at geography, a sophisticated tree of life browser could really change the way we look at the life around us … Our advances in understanding evolution are moving really fast now, but the tools for looking at these big trees are lagging behind. (Westneat, February 2009)
Displaying large trees is a hard problem that has so far resisted solution. We are still waiting for the equivalent of a Google Maps. (Page, June 2012)
In this manuscript, we introduce a new approach that solves the problem. Trees with millions of tips, richly embellished with additional data, can now be easily explored within the web browser of any modern hardware with a zooming user interface similar to that used in Google Maps.
Filed under tree of life evolution phylogeny species data neuroscience science
'Tree of life' constructed for all living bird species
Scientists have mapped the evolutionary relationships among all 9,993 of the world’s known living bird species. The study, published today in Nature, is an ambitious project that uses DNA-sequence data to create a phylogenetic tree — a branching map of evolutionary relationships among species — that also links global bird speciation rates across space and time.
“This is the first dated tree of life for a class of species this size to be put on a global map,” says study co-author Walter Jetz, an evolutionary biologist at Yale University in New Haven, Connecticut.
Read more
Filed under birds evolution phylogeny DNA sequence biology neuroscience science
New Study Shows Effects of Prehistoric Nocturnal Life on Mammalian Vision
Since the age of dinosaurs, most species of day-active mammals have retained the imprint of nocturnal life in their eye structures. Humans and other anthropoid primates, such as monkeys and apes, are the only groups that deviate from this pattern, according to a new study from The University of Texas at Austin and Midwestern University.
The findings, published in a forthcoming issue of Proceedings of the Royal Society B, are the first to provide a large-scale body of evidence for the “nocturnal bottleneck theory,” which suggests that mammalian sensory traits have been profoundly influenced by an extended period of adaptation to nocturnality during the Mesozoic Era. This period lasted from 250 million years ago to 65 million years ago.
To survive in the night, mammals had a host of visual capabilities, such as good color vision and high acuity, which were lost as they passed through the nocturnal “bottleneck.”
(Image credit)
Filed under bottleneck theory evolution mammals vision neuroscience science