scholarly journals Phylogenetic analysis supports a link between DUF1220 domain number and primate brain expansion

2015 ◽  
Author(s):  
Fabian Zimmer ◽  
Stephen H Montgomery
Keyword(s):  
Brain Development ◽  
Copy Number ◽  
Brain Size ◽  
Strong Association ◽  
Brain Evolution ◽  
Evolutionary Significance ◽  
Human Brain Evolution ◽  
Disease Associations ◽  
Brain Expansion ◽  
Duf1220 Domain

The expansion of DUF1220 domain copy number during human evolution is a dramatic example of rapid and repeated domain duplication. However, the phenotypic relevance of DUF1220 dosage is unknown. Although patterns of expression, homology and disease associations suggest a role in cortical development, this hypothesis has not been robustly tested using phylogenetic methods. Here, we estimate DUF1220 domain counts across 12 primate genomes using a nucleotide Hidden Markov Model. We then test a series of hypotheses designed to examine the potential evolutionary significance of DUF1220 copy number expansion. Our results suggest a robust association with brain size, and more specifically neocortex volume. In contradiction to previous hypotheses we find a strong association with postnatal brain development, but not with prenatal brain development. Our results provide further evidence of a conserved association between specific loci and brain size across primates, suggesting human brain evolution occurred through a continuation of existing processes.

scholarly journals Emerging Roles of Long Non-Coding RNAs as Drivers of Brain Evolution

Cells ◽  
2019 ◽  
Vol 8 (11) ◽  
pp. 1399 ◽  
Author(s):  
Geraldine Zimmer-Bensch
Keyword(s):  
Human Brain ◽  
Cognitive Abilities ◽  
Brain Size ◽  
Expression Patterns ◽  
Brain Evolution ◽  
Relative Volume ◽  
Structural Reorganization ◽  
Protein Coding ◽  
Human Brain Evolution ◽  
Transcriptional Regulatory

Mammalian genomes encode tens of thousands of long-noncoding RNAs (lncRNAs), which are capable of interactions with DNA, RNA and protein molecules, thereby enabling a variety of transcriptional and post-transcriptional regulatory activities. Strikingly, about 40% of lncRNAs are expressed specifically in the brain with precisely regulated temporal and spatial expression patterns. In stark contrast to the highly conserved repertoire of protein-coding genes, thousands of lncRNAs have newly appeared during primate nervous system evolution with hundreds of human-specific lncRNAs. Their evolvable nature and the myriad of potential functions make lncRNAs ideal candidates for drivers of human brain evolution. The human brain displays the largest relative volume of any animal species and the most remarkable cognitive abilities. In addition to brain size, structural reorganization and adaptive changes represent crucial hallmarks of human brain evolution. lncRNAs are increasingly reported to be involved in neurodevelopmental processes suggested to underlie human brain evolution, including proliferation, neurite outgrowth and synaptogenesis, as well as in neuroplasticity. Hence, evolutionary human brain adaptations are proposed to be essentially driven by lncRNAs, which will be discussed in this review.

Regional selection of the brain size regulating gene CASC5 provides new insight into human brain evolution

2016 ◽  
Vol 136 (2) ◽  
pp. 193-204 ◽  
Author(s):  
Lei Shi ◽  
Enzhi Hu ◽  
Zhenbo Wang ◽  
Jiewei Liu ◽  
Jin Li ◽  
...  
Keyword(s):  
Human Brain ◽  
Brain Size ◽  
Brain Evolution ◽  
Human Brain Evolution ◽  
The Brain ◽  
Insight Into ◽  
Selection Of

scholarly journals Emerging Roles of Long Non-Coding RNAs as Drivers of Brain Evolution

2019 ◽  
Author(s):  
Geraldine Zimmer-Bensch
Keyword(s):  
Human Brain ◽  
Cognitive Abilities ◽  
Brain Size ◽  
Expression Patterns ◽  
Brain Evolution ◽  
Relative Volume ◽  
Structural Reorganization ◽  
Protein Coding ◽  
Human Brain Evolution ◽  
Transcriptional Regulatory

Mammalian genomes encode tens of thousands of long-noncoding RNAs (lncRNAs), which are capable of interactions with DNA, RNA and protein molecules, thereby enabling a variety of transcriptional and post-transcriptional regulatory activities. Strikingly, about 40% of lncRNAs are expressed specifically in the brain in precisely regulated temporal and spatial expression patterns. In stark contrast to the highly conserved repertoire of protein-coding genes, thousands of new lncRNAs have appeared during primate nervous system evolution with hundreds of human-specific lncRNAs. Their evolvable nature and the myriad of potential functions make lncRNAs ideal candidates for drivers of human brain evolution. The human brain displays the largest relative volume of any animal species and the most remarkable cognitive abilities. In addition to brain size, structural reorganization and adaptive changes represent crucial hallmarks of human brain evolution. LncRNAs are increasingly reported to be involved in neurodevelopmental processes including proliferation, neurite outgrowth and synaptogenesis, as well as in neuroplasticity, suggested to underlie human brain evolution. Hence, evolutionary human brain adaptations are proposed to be essentially driven by lncRNAs, which will be discussed in this review.

scholarly journals Proteolytic Activation of Human-specific Olduvai Domains by the Furin Protease

2021 ◽  
Author(s):  
Ashley Pacheco ◽  
Aaron Issaian ◽  
Jonathan Davis ◽  
Nathan Anderson ◽  
Travis Nemkov ◽  
...  
Keyword(s):  
Human Brain ◽  
Copy Number ◽  
Brain Size ◽  
Active Agent ◽  
Brain Evolution ◽  
Variable Number ◽  
Coding Region ◽  
Proteolytic Activation ◽  
Highly Correlated ◽  
Human Specific

Olduvai protein domains (formerly DUF1220) show the greatest human-specific increase in copy number of any coding region in the genome and are highly correlated with human brain evolution and cognitive disease. The majority of human copies are found within four NBPF genes organized in a variable number of a tandemly arranged three-domain blocks called Olduvai triplets. Here we show that these human-specific Olduvai domains are posttranslationally processed by the furin protease, with a cleavage site occurring once at each triplet. These findings suggest that all expanded human-specific NBPF genes encode proproteins consisting of many independent Olduvai triplet proteins which are activated by furin processing. The exceptional correlation of Olduvai copy number and brain size taken together with our new furin data, indicates the ultimate target of selection was a rapid increase in dosage of autonomously functioning Olduvai triplet proteins, and that these proteins are the primary active agent underlying Olduvai's role in human brain expansion.

Putting humans in their proper place

2006 ◽  
Vol 29 (1) ◽  
pp. 15-16 ◽  
Author(s):  
R. I. M. Dunbar
Keyword(s):  
Human Brain ◽  
Brain Size ◽  
Brain Evolution ◽  
Developmental Constraints ◽  
Proper Place ◽  
Human Brain Evolution ◽  
Machiavellian Intelligence ◽  
Initial Jump

Striedter's account of human brain evolution fails on two key counts. First, he confuses developmental constraints with selection explanations in the initial jump in hominid brain size around two MYA. Second, he misunderstands the Machiavellian Intelligence explanation.

Skill Learning and Human Brain Evolution: An Experimental Approach

2015 ◽  
Vol 25 (4) ◽  
pp. 867-875 ◽  
Author(s):  
Dietrich Stout ◽  
Nada Khreisheh
Keyword(s):  
Experimental Approach ◽  
Brain Size ◽  
Brain Evolution ◽  
Modern Human ◽  
Skill Learning ◽  
Human Condition ◽  
Archaeological Record ◽  
Subsistence Strategies ◽  
Human Brain Evolution ◽  
Effective Use

Increasing reliance on skill-intensive subsistence strategies appears to be a hallmark of human evolution, with wide-ranging implications for sociality, brain size, life-history and cognitive adaptations. These parameters describe a human technological niche reliant on efficient intergenerational reproduction of increasingly complex foraging techniques, including especially the production and effective use of tools. The archaeological record provides a valuable source of evidence for tracing the emergence of this modern human condition, but interpretation of this evidence remains challenging and controversial. Application of methods from psychology and neuroscience to Palaeolithic tool-making experiments offers new avenues for establishing empirical links between technological behaviours, neurocognitive substrates and archaeologically observable material residues. Here we review recent progress and highlight key challenges for the future.

scholarly journals DUF1220-Domain Copy Number Implicated in Human Brain-Size Pathology and Evolution

2012 ◽  
Vol 91 (3) ◽  
pp. 444-454 ◽  
Author(s):  
Laura J. Dumas ◽  
Majesta S. O’Bleness ◽  
Jonathan M. Davis ◽  
C. Michael Dickens ◽  
Nathan Anderson ◽  
...  
Keyword(s):  
Human Brain ◽  
Copy Number ◽  
Brain Size ◽  
Duf1220 Domain

scholarly journals The genomics of ecological flexibility, large brains, and long lives in capuchin monkeys revealed with fecalFACS

2021 ◽  
Vol 118 (7) ◽  
pp. e2010632118
Author(s):  
Joseph D. Orkin ◽  
Michael J. Montague ◽  
Daniela Tejada-Martinez ◽  
Marc de Manuel ◽  
Javier del Campo ◽  
...  
Keyword(s):  
Comparative Genomics ◽  
Brain Development ◽  
Local Adaptation ◽  
De Novo ◽  
Brain Size ◽  
Brain Evolution ◽  
Population Divergence ◽  
Capuchin Monkeys ◽  
Technological Advancement ◽  
Ecological Flexibility

Ecological flexibility, extended lifespans, and large brains have long intrigued evolutionary biologists, and comparative genomics offers an efficient and effective tool for generating new insights into the evolution of such traits. Studies of capuchin monkeys are particularly well situated to shed light on the selective pressures and genetic underpinnings of local adaptation to diverse habitats, longevity, and brain development. Distributed widely across Central and South America, they are inventive and extractive foragers, known for their sensorimotor intelligence. Capuchins have among the largest relative brain size of any monkey and a lifespan that exceeds 50 y, despite their small (3 to 5 kg) body size. We assemble and annotate a de novo reference genome for Cebus imitator. Through high-depth sequencing of DNA derived from blood, various tissues, and feces via fluorescence-activated cell sorting (fecalFACS) to isolate monkey epithelial cells, we compared genomes of capuchin populations from tropical dry forests and lowland rainforests and identified population divergence in genes involved in water balance, kidney function, and metabolism. Through a comparative genomics approach spanning a wide diversity of mammals, we identified genes under positive selection associated with longevity and brain development. Additionally, we provide a technological advancement in the use of noninvasive genomics for studies of free-ranging mammals. Our intra- and interspecific comparative study of capuchin genomics provides insights into processes underlying local adaptation to diverse and physiologically challenging environments, as well as the molecular basis of brain evolution and longevity.

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