A Bioinformatics Study of NAGPA, GNPTAB and GNPTG, Three Genes Likely Involved in the Development of Speech and Language in Homo sapiens

DOI: 10.14673/HE2015341013
Published in Human Evolution – Vol. 30 – n.3-4 – 2015

Key words: bioinformatics analysis; NAGPA, GNPTAB and GNPTG genes; human evolution; language and speech.

Abstract
Complex traits, such as language and speech in Homo sapiens, typically have a polygenic basis, and it is therefore highly improbable that exclusively FOXP2 – the only gene currently known to be specifically implicated in the development of linguistic processes – was selected in the evolution of our language abilities. Thus, with the purpose of examining the possible contribution of other genes to the evolution of language and speech in humans, in this study we performed an extensive bioinformatics analysis of the expression of the genes NAGPA, GNPTAB and GNPTG (mutations of which have previously been linked to speech disorders) in Homo sapiens, Pan troglodytes and other non-human primates, mammals and vertebrates, in order to examine their molecular evolution. By comparing protein-coding nucleotide sequences and encoded amino-acid sequences, we found, most notably, a few amino-acid substitutions between Homo sapiens and our closest living evolutionary relative, the chimpanzee, in each of the protein sequences encoded by these three genes, and we have determined the functional value of each replacement. All three genes are derived in humans relative to chimpanzees, and there is one amino-acid replacement with a high functional value in both the enzymes that are encoded by them, and which have evolved in the human lineage. Although the results of evolutionary analyses indicate that these genes are globally under purifying selection in Primates, similarly this occurs with FOXP2. The human FOXP2 protein differs from the chimpanzee sequence in just two replacements, which should, nevertheless, be regarded as strongly linked to human language acquisition, even though they can not be seen to have a high functional value. It appears, therefore, reasonable to infer that the genes GNPTAB, GNPTG, and particularly, NAGPA, might also have had a role in the evolution of human language.

Fiore, M.G.
Mandino, F.
Ramazzotti, M.
Meacci, E.
Ruggiero, M.
Department of Experimental and Clinical Biomedical Sciences,
University of Florence, Viale Morgagni 50, 50134 Firenze, Italy.
Correspondence to: Dr. Maria G. Fiore
E-mail: giulietz@hotmail.it

Magherini, S.
Pacini, S.
Department of Experimental and Clinical Medicine,
University of Florence, Viale Morgagni 85, 50134 Firenze, Italy.

Chiarelli, B.
International Institute for Humankind Studies, Via del Proconsolo 12,
50122 Firenze, Italy.

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The Human Population in the Alpine Ecosystem: The Example of Bellino, Val Varaita (Province of Cuneo), Piemonte, Italy

DOI: 10.14673/IJA201511004
Published in Int. Journal of Anthropology – Vol. 30 – n.1 – 2015

Key words: Val Varaita (Bellino), mountain communities, demographic and anthropological analyses.

Abstract
The biological characteristics of human communities that have lived in isolation for many generations because of their environment, have always interested anthropologists with  regard to understanding the phenomenon of adaptation. These are the reasons that motivated some researchers from the University of Turin, in the 1970s, to undertake an interesting project aimed at creating a multidisciplinary anthropological reconstruction of human isolated groups living in the mountains. More specifically, they examined the residents of Bellino, a locality in Varaita (Province of Cuneo), Piedmont, in the north of Italy, who were considered appropriate subjects because of their history and geography. The local population at that time was made up of 432 inhabitants and research was conducted on 267 individuals: 140 men and 127 women.
This paper is a review of that research on genetic variability, with demographic and social data, highlighting events that have influenced the social anthropology of past and future generations in Varaita.

Minaldi D., Rabino Massa E.
Department of Life Sciences and
Systems Biology, University of Turin,
Via Accademia Albertina 13, 10123 Turin, Italy.
E-mail: donatella.minaldi@unito.it

Chiarelli B.
International Institute for Humankind Studies, Laboratory of Anthropology& Ethnology, University of Florence, Via del Proconsolo 12, 50122 Florence, Italy.

A Bioinformatics Analysis of RUNX2 (A Transcription Factor Essential for Osseous Morphogenesis and Metopic Suture Closure Regulation) with Possible Implications for Hominin Brain Evolution

DOI: 10.14673/HE2015121005
Published in:
 Human Evolution – Vol.30 – N.1-2 – 2015

Abstract

Recent sequencing of the Neanderthal genome reveals signs of positive selection in the modern human variant of the RUNX2 (CBFA1) gene, which is known to affect metopic suture fusion, as well as being essential for osteoblast development and proper bone formation. It is possible that evolutionary changes in RUNX2, affecting aspects of the morphology of the upper body and cranium, were of importance in the origins of modern humans.

To contribute to a better understanding of the molecular evolution of this gene, probably implicated in human evolution, we performed a comparative bioinformatic analysis of the coding and coded sequences of RUNX2 in Homo sapiens, Pan troglodytes, Gorilla gorilla, Pongo abelii, and Macaca mulatta. We found differences between Homo sapiens and the other Primates examined in amino-acid sequences of certain RUNX2 protein isoforms, which may have important implications for the timing of metopic suture closure. However, further studies are required to clarify the potentially distinct developmental roles of different species-specific N-terminal isoforms. Future studies may be particularly important for gaining a better understanding of possible evolutionary changes in the molecular mechanisms underlying the likely modification of frontal neurocranial ossification patterns that occurred during hominin brain evolution.

Magherini, S.
Morucci, G.
Branca, J.J.V.
Pacini, S.

Department of Experimental and Clinical Medicine,
University of Firenze, Viale Morgagni 85, 50134, Firenze, Italy.
E-mail: stemaghe@libero.it

Fiore, M.G.

Serrao, A.
Ruggiero, M. 

Department of Experimental and Clinical Biomedical Sciences,
University of Firenze, Viale Morgagni 50, 50134 Firenze, Italy.

Chiarelli, B.
Laboratory of Anthropology and Ethnology, Department of Evolutionary Biology,
University of Florence, Via del Proconsolo 12, 50122, Florence, Italy.

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Evolution of the Hominin Brain: A Review of Variations in Size and Shape

DOI: 10.14673/HE2015121001  
Published in Human Evolution – Vol.30 – 1-2-2015

Keywords: endocranial casts, hominin brain evolution, primate comparative neuroanatomy

Abstract
If we aim to understand the acquisition of human cognitive organization during hominin evolution, two fundamental and complementary lines of evidence must be taken into account: the first is paleoneurological, based on the analyses of brain “endocasts” (endocranial casts) of our evolutionary ancestors’ fossils, namely casts made of the neurocranium interior of hominin skulls; the second is neurological, based on comparative neurological data on living primates, assuming that changes occurred from an ape-like forerunner, whose neuroanatomical relationships were somewhat similar to those of extant chimpanzees and gorillas, the closest living evolutionary relatives of present-day humans.
In this article, we summarize how advances in the study of hominin endocasts, together with comparative neurological data presently available on the cerebral neocortex and cerebellum of modern humans and extant apes, impact on our understanding of the nature and timing of hominin brain evolution.
The major external phenotypic effect that can be observed from the hominin fossil record is an increase in brain size, but the evolutionary development of the hominin brain must have actually been much more complex. The paleoneurological and comparative neuroanatomical evidence suggests that brain size and neurological reorganization were both important variables in the course of hominin brain evolution. During the last three million years, there have occurred allometric and non-allometric brain size increases, interspersed (or interdigitated) with critical reorganizational changes.

Magherini, S.
Morucci, G.
Branca, J.J.V.
Pacini, S.

Department of Experimental and Clinical Medicine,
University of Firenze, Viale Morgagni 85, 50134, Firenze, Italy.
E-mail: stemaghe@libero.it

Fiore, M.G.
Ruggiero, M. 

Department of Experimental and Clinical Biomedical Sciences,
University of Firenze, Viale Morgagni 50, 50134 Firenze, Italy.

Chiarelli, B.
Laboratory of Anthropology and Ethnology, Department of Evolutionary Biology,
University of Florence, Via del Proconsolo 12, 50122, Florence, Italy.

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Pages: 47
Price Euro: 12,00

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