scholarly journals Genes Affecting Vocal and Facial Anatomy Went Through Extensive Regulatory Divergence in Modern Humans

2017 ◽  
Author(s):  
David Gokhman ◽  
Malka Nissim-Rafinia ◽  
Lily Agranat-Tamir ◽  
Genevieve Housman ◽  
Raquel García-Pérez ◽  
...  
Keyword(s):  
Vocal Tract ◽  
Modern Human ◽  
Human Face ◽  
Modern Humans ◽  
Regulatory Changes ◽  
Phenotypic Divergence ◽  
The Face ◽  
Key Drivers ◽  
Facial Anatomy ◽  
Human Specific

SummaryRegulatory changes are broadly accepted as key drivers of phenotypic divergence. However, identifying regulatory changes that underlie human-specific traits has proven very challenging. Here, we use 63 DNA methylation maps of ancient and present-day humans, as well as of six chimpanzees, to detect differentially methylated regions that emerged in modern humans after the split from Neanderthals and Denisovans. We show that genes affecting the face and vocal tract went through particularly extensive methylation changes. Specifically, we identify widespread hypermethylation in a network of face- and voice-affecting genes (SOX9, ACAN, COL2A1, NFIX and XYLT1). We propose that these repression patterns appeared after the split from Neanderthals and Denisovans, and that they might have played a key role in shaping the modern human face and vocal tract.

scholarly journals The cis-regulatory effects of modern human-specific variants

eLife ◽  
2021 ◽  
Vol 10 ◽  
Author(s):  
Carly V Weiss ◽  
Lana Harshman ◽  
Fumitaka Inoue ◽  
Hunter B Fraser ◽  
Dmitri A Petrov ◽  
...  
Keyword(s):  
Neural Progenitor Cells ◽  
Vocal Tract ◽  
Embryonic Stem ◽  
Modern Human ◽  
Regulatory Function ◽  
Brain Anatomy ◽  
Regulatory Effects ◽  
And Function ◽  
Massively Parallel Reporter Assay ◽  
Human Specific

The Neanderthal and Denisovan genomes enabled the discovery of sequences that differ between modern and archaic humans, the majority of which are noncoding. However, our understanding of the regulatory consequences of these differences remains limited, in part due to the decay of regulatory marks in ancient samples. Here, we used a massively parallel reporter assay in embryonic stem cells, neural progenitor cells, and bone osteoblasts to investigate the regulatory effects of the 14,042 single-nucleotide modern human-specific variants. Overall, 1791 (13%) of sequences containing these variants showed active regulatory activity, and 407 (23%) of these drove differential expression between human groups. Differentially active sequences were associated with divergent transcription factor binding motifs, and with genes enriched for vocal tract and brain anatomy and function. This work provides insight into the regulatory function of variants that emerged along the modern human lineage and the recent evolution of human gene expression.

scholarly journals The cis-regulatory effects of modern human-specific variants

2020 ◽  
Author(s):  
Carly V. Weiss ◽  
Lana Harshman ◽  
Fumitaka Inoue ◽  
Hunter B. Fraser ◽  
Dmitri A. Petrov ◽  
...  
Keyword(s):  
Neural Progenitor Cells ◽  
Vocal Tract ◽  
Embryonic Stem ◽  
Modern Human ◽  
Regulatory Function ◽  
Brain Anatomy ◽  
Regulatory Effects ◽  
And Function ◽  
Massively Parallel Reporter Assay ◽  
Human Specific

AbstractThe Neanderthal and Denisovan genomes enabled the discovery of sequences that differ between modern and archaic humans, the majority of which are noncoding. However, our understanding of the regulatory consequences of these differences remains limited, in part due to the decay of regulatory marks in ancient samples. Here, we used a massively parallel reporter assay in embryonic stem cells, neural progenitor cells and bone osteoblasts to investigate the regulatory effects of the 14,042 single-nucleotide modern human-specific variants. Overall, 1,791 (13%) of sequences containing these variants showed active regulatory activity, and 407 (23%) of these drove differential expression between human groups. Differentially active sequences were associated with divergent transcription factor binding motifs, and with genes enriched for vocal tract and brain anatomy and function. This work provides insight into the regulatory function of variants that emerged along the modern human lineage and the recent evolution of human gene expression.

scholarly journals Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication

2019 ◽  
Vol 5 (12) ◽  
pp. eaaw7908 ◽  
Author(s):  
Matteo Zanella ◽  
Alessandro Vitriolo ◽  
Alejandro Andirko ◽  
Pedro Tiago Martins ◽  
Stefanie Sturm ◽  
...  
Keyword(s):  
Copy Number ◽  
Human Gene ◽  
Copy Number Variants ◽  
Modern Human ◽  
Human Face ◽  
Regulatory Changes ◽  
Gene Patterning ◽  
And Migration ◽  
In Vitro Induction

We undertook a functional dissection of chromatin remodeler BAZ1B in neural crest (NC) stem cells (NCSCs) from a uniquely informative cohort of typical and atypical patients harboring 7q11.23 copy number variants. Our results reveal a key contribution of BAZ1B to NCSC in vitro induction and migration, coupled with a crucial involvement in NC-specific transcriptional circuits and distal regulation. By intersecting our experimental data with new paleogenetic analyses comparing modern and archaic humans, we found a modern-specific enrichment for regulatory changes both in BAZ1B and its experimentally defined downstream targets, thereby providing the first empirical validation of the human self-domestication hypothesis and positioning BAZ1B as a master regulator of the modern human face. In so doing, we provide experimental evidence that the craniofacial and cognitive/behavioral phenotypes caused by alterations of the Williams-Beuren syndrome critical region can serve as a powerful entry point into the evolution of the modern human face and prosociality.

Hominin Taxic Diversity

2020 ◽  
Author(s):  
Bernard Wood ◽  
Dandy Doherty ◽  
Eve Boyle
Keyword(s):  
Fossil Record ◽  
Evolutionary History ◽  
Vocal Tract ◽  
Modern Human ◽  
Modern Humans ◽  
Minimum Requirement ◽  
Time Period ◽  
Relative Rarity ◽  
Taxic Diversity ◽  
Main Factor

The clade (a.k.a. twig of the Tree of Life) that includes modern humans includes all of the extinct species that are judged, on the basis of their morphology or their genotype, to be more closely related to modern humans than to chimpanzees and bonobos. Taxic diversity with respect to the hominin clade refers to evidence that it included more than one species at any one time period in its evolutionary history. The minimum requirement is that a single ancestor-descendant sequence connects modern humans with the hypothetical common ancestor they share with chimpanzees and bonobos. Does the hominin clade include just modern human ancestors or does it also include non-ancestral species that are closely related to modern humans? It has been suggested there is evidence of taxic diversity within the hominin clade back to 4.5 million years ago, but how sound is that evidence? The main factor that would work to overestimate taxic diversity is the tendency for paleoanthropologists to recognize too many taxa among the site collections of hominin fossils. Factors that would work to systematically underestimate taxic diversity include the relative rarity of hominins within fossil faunas, the realities that many parts of the world where hominins could have been living are un- or under-sampled, and that during many periods of human evolutionary history, erosion rather than deposition predominated, thus reducing or eliminating the chance that animals alive during those times would be recorded in the fossil record. Finally, some of the most distinctive parts of an animal (e.g., pelage, vocal tract, scent glands) are not likely to be preserved in the hominin fossil record, which is dominated by fragments of teeth and jaws.

scholarly journals 7q11.23 Syndromes Reveal BAZ1B as a Master Regulator of the Modern Human Face and Validate the Self-Domestication Hypothesis

2019 ◽  
Author(s):  
Matteo Zanella ◽  
Alessandro Vitriolo ◽  
Alejandro Andirko ◽  
Pedro Tiago Martins ◽  
Stefanie Sturm ◽  
...  
Keyword(s):  
Neural Crest ◽  
Copy Number Variants ◽  
Modern Human ◽  
The Self ◽  
Human Face ◽  
Master Regulator ◽  
Neural Crest Stem Cells ◽  
Regulatory Changes ◽  
And Migration

AbstractSymmetrical 7q11.23 dosage alterations cause craniofacial and cognitive/behavioral phenotypes that provide a privileged entry point into the evolution of the modern human face and (pro-) sociality. We undertook a functional dissection of chromatin remodeler BAZ1B in neural crest stem cells (NCSCs) from a uniquely informative cohort of typical and atypical patients harboring 7q11.23 Copy Number Variants (CNVs). Our results reveal a key contribution of BAZ1B to NCSCin vitroinduction and migration, coupled with a crucial involvement in neural crest (NC)-specific transcriptional circuits and distal regulation. By intersecting our experimental data with new paleogenetic analyses comparing modern and archaic humans, we uncover a modern-specific enrichment for regulatory changes both in BAZ1B and its experimentally defined downstream targets, thereby providing the first empirical validation of the self-domestication hypothesis and positioning BAZ1B as a master regulator of the modern human face.One Sentence SummaryBAZ1B dosage shapes the modern human face.

Conventions and temporal differences in painted faces: A study of posture and color distribution

2020 ◽  
Vol 2020 (11) ◽  
pp. 267-1-267-8
Author(s):  
Mitchell J.P. van Zuijlen ◽  
Sylvia C. Pont ◽  
Maarten W.A. Wijntjes
Keyword(s):  
Scientific Community ◽  
Human Face ◽  
Art Galleries ◽  
Art Collections ◽  
Color Distribution ◽  
Scientific Domain ◽  
The Face ◽  
And Gender ◽  
Changes Over Time ◽  
Over Time

The human face is a popular motif in art and depictions of faces can be found throughout history in nearly every culture. Artists have mastered the depiction of faces after employing careful experimentation using the relatively limited means of paints and oils. Many of the results of these experimentations are now available to the scientific domain due to the digitization of large art collections. In this paper we study the depiction of the face throughout history. We used an automated facial detection network to detect a set of 11,659 faces in 15,534 predominately western artworks, from 6 international, digitized art galleries. We analyzed the pose and color of these faces and related those to changes over time and gender differences. We find a number of previously known conventions, such as the convention of depicting the left cheek for females and vice versa for males, as well as unknown conventions, such as the convention of females to be depicted looking slightly down. Our set of faces will be released to the scientific community for further study.

Real Time Person Recognition and Attendance Marking Using Holistic Based Approach

2017 ◽  
Vol 7 (7) ◽  
pp. 302
Author(s):  
Reshma P ◽  
Muneer VK ◽  
Muhammed Ilyas P
Keyword(s):  
Face Recognition ◽  
Real Time ◽  
High Accuracy ◽  
Efficient Technique ◽  
Human Face ◽  
Traditional Methods ◽  
Person Recognition ◽  
The Face

Face recognition is a challenging task for the researches. It is very useful for personal verification and recognition and also it is very difficult to implement due to all different situation that a human face can be found. This system makes use of the face recognition approach for the computerized attendance marking of students or employees in the room environment without lectures intervention or the employee. This system is very efficient and requires very less maintenance compared to the traditional methods. Among existing methods PCA is the most efficient technique. In this project Holistic based approach is adapted. The system is implemented using MATLAB and provides high accuracy.

Clash of signs: Putting bilingualism back into language evolution

2020 ◽  
Author(s):  
Steven Samuel
Keyword(s):  
Language Evolution ◽  
Modern Human ◽  
Alarm Calls ◽  
Bilingual Children ◽  
Human Language ◽  
Typically Developing ◽  
Typically Developing Children ◽  
Modern Humans ◽  
The Real ◽  
Multiple Languages

Research and thinking into the cognitive aspects of language evolution has usually attempted to account for how the capacity for learning even one modern human language developed. Bilingualism has perhaps been thought of as something to think about only once the ‘real’ puzzle of monolingualism is solved, but this would assume in turn (and without evidence) that bilingualism evolved after monolingualism. All typically-developing children (and adults) are capable of learning multiple languages, and the majority of modern humans are at least bilingual. In this paper I ask whether by skipping bilingualism out of language evolution we have missed a trick. I propose that exposure to synonymous signs, such as food and alarm calls, are a necessary precondition for the abstracting away of sound from referent. In support of this possibility is evidence that modern day bilingual children are better at breaking this ‘word magic’ spell. More generally, language evolution should be viewed through the lens of bilingualism, as this is the end state we are attempting to explain.

scholarly journals Initial Upper Palaeolithic humans in Europe had recent Neanderthal ancestry

Nature ◽  
2021 ◽  
Vol 592 (7853) ◽  
pp. 253-257 ◽  
Author(s):  
Mateja Hajdinjak ◽  
Fabrizio Mafessoni ◽  
Laurits Skov ◽  
Benjamin Vernot ◽  
Alexander Hübner ◽  
...  
Keyword(s):  
Family History ◽  
East Asia ◽  
Late Pleistocene ◽  
Modern Human ◽  
Human Migration ◽  
Upper Palaeolithic ◽  
Modern Humans ◽  
Genome Wide ◽  
Genome Wide Data

AbstractModern humans appeared in Europe by at least 45,000 years ago1–5, but the extent of their interactions with Neanderthals, who disappeared by about 40,000 years ago6, and their relationship to the broader expansion of modern humans outside Africa are poorly understood. Here we present genome-wide data from three individuals dated to between 45,930 and 42,580 years ago from Bacho Kiro Cave, Bulgaria1,2. They are the earliest Late Pleistocene modern humans known to have been recovered in Europe so far, and were found in association with an Initial Upper Palaeolithic artefact assemblage. Unlike two previously studied individuals of similar ages from Romania7 and Siberia8 who did not contribute detectably to later populations, these individuals are more closely related to present-day and ancient populations in East Asia and the Americas than to later west Eurasian populations. This indicates that they belonged to a modern human migration into Europe that was not previously known from the genetic record, and provides evidence that there was at least some continuity between the earliest modern humans in Europe and later people in Eurasia. Moreover, we find that all three individuals had Neanderthal ancestors a few generations back in their family history, confirming that the first European modern humans mixed with Neanderthals and suggesting that such mixing could have been common.

scholarly journals Air Pressure Responses to Sudden Vocal Tract Pressure Bleeds During Production of Stop Consonants

2004 ◽  
Vol 47 (4) ◽  
pp. 784-801 ◽  
Author(s):  
David J. Zajac ◽  
Mark C. Weissler
Keyword(s):  
Vocal Tract ◽  
Linear Trend ◽  
Upper Airway ◽  
Air Pressure ◽  
Stop Consonants ◽  
Oral Pressure ◽  
The Face ◽  
Computer Controlled ◽  
Linear Manner ◽  
Respiratory Reflexes

Two studies were conducted to evaluate short-latency vocal tract air pressure responses to sudden pressure bleeds during production of voiceless bilabial stop consonants. It was hypothesized that the occurrence of respiratory reflexes would be indicated by distinct patterns of responses as a function of bleed magnitude. In Study 1, 19 adults produced syllable trains of /pʌ/ using a mouthpiece coupled to a computer-controlled perturbator. The device randomly created bleed apertures that ranged from 0 to 40 mm 2 during production of the 2nd or 4th syllable of an utterance. Although peak oral air pressure dropped in a linear manner across bleed apertures, it averaged 2 to 3 cm H 2 O at the largest bleed. While slope of oral pressure also decreased in a linear trend, duration of the oral pressure pulse remained relatively constant. The patterns suggest that respiratory reflexes, if present, have little effect on oral air pressure levels. In Study 2, both oral and subglottal air pressure responses were monitored in 2 adults while bleed apertures of 20 and 40 mm 2 were randomly created. For 1 participant, peak oral air pressure dropped across bleed apertures, as in Study 1. Subglottal air pressure and slope, however, remained relatively stable. These patterns provide some support for the occurrence of respiratory reflexes to regulate subglottal air pressure. Overall, the studies indicate that the inherent physiologic processes of the respiratory system, which may involve reflexes, and passive aeromechanical resistance of the upper airway are capable of developing oral air pressure in the face of substantial pressure bleeds. Implications for understanding speech production and the characteristics of individuals with velopharyngeal dysfunction are discussed. KEY WORDS: stop consonants, oral air pressure, subglottal air pressure, respiratory reflexes, velopharyngeal dysfunction

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