The evolution of the human brain and disease susceptibility

Pattabiraman, Kartik; Muchnik, Sydney; Šestan, Nenad

doi:10.1016/j.gde.2020.05.004

Cited by 41 publications

(48 citation statements)

References 74 publications

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“…Compared to rodents, the ferret shows some of the key neurodevelopmental features similar to humans, notably an expanded neocortex and gyrencephaly. However, certain neurodevelopmental traits are truly human-specific and they are thought to form a basis for our unparalleled cognitive abilities ( Rakic, 2009 ; Sousa et al, 2017 ; Ardesch et al, 2019 ; Pattabiraman et al, 2020 ). Since various human-specific genomic changes in both coding and non-coding regions are underlying such neurodevelopmental traits, a lot of effort has been made to identify the key changes and examine them functionally in different model systems ( Silver, 2016 ; Dennis et al, 2017 ; Florio et al, 2018 ; Pattabiraman et al, 2020 ; Vaid and Huttner, 2020 ).…”

Section: The Ferret As a Model For Human Pathologiesmentioning

confidence: 99%

The Ferret as a Model System for Neocortex Development and Evolution

Gilardi

Kalebic²

2021

Front. Cell Dev. Biol.

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The neocortex is the largest part of the cerebral cortex and a key structure involved in human behavior and cognition. Comparison of neocortex development across mammals reveals that the proliferative capacity of neural stem and progenitor cells and the length of the neurogenic period are essential for regulating neocortex size and complexity, which in turn are thought to be instrumental for the increased cognitive abilities in humans. The domesticated ferret, Mustela putorius furo, is an important animal model in neurodevelopment for its complex postnatal cortical folding, its long period of forebrain development and its accessibility to genetic manipulation in vivo. Here, we discuss the molecular, cellular, and histological features that make this small gyrencephalic carnivore a suitable animal model to study the physiological and pathological mechanisms for the development of an expanded neocortex. We particularly focus on the mechanisms of neural stem cell proliferation, neuronal differentiation, cortical folding, visual system development, and neurodevelopmental pathologies. We further discuss the technological advances that have enabled the genetic manipulation of the ferret in vivo. Finally, we compare the features of neocortex development in the ferret with those of other model organisms.

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Section: The Ferret As a Model For Human Pathologiesmentioning

confidence: 99%

The Ferret as a Model System for Neocortex Development and Evolution

Gilardi

Kalebic²

2021

Front. Cell Dev. Biol.

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“…In this study, we tried to explore the molecular mechanisms underlying human brain by comparing the evolutionary features of pathways enriched in genes expressed in human brain and macaque brain. Having a nervous system comparable to the one found in humans, macaques are the most commonly studied non-human primates in neuroscience and have also been widely used as an animal model for studying the evolution of human nervous system (Sousa, Meyer et al 2017;Sousa, Zhu et al 2017;Muchnik, Lorente-Galdos et al 2019;Pattabiraman, Muchnik et al 2020;Yin, Lu et al 2020). In earlier studies, a large number of genes expressed in human or macaque brains have been identi ed, which provide valuable information for understanding the molecular features of the human brain and its evolution.…”

Section: Introductionmentioning

confidence: 99%

Differentially Evolutionary Pathways and Their Interactions in Genes Expressed in Brain of Human and Macaque

Ma¹,

Cao²,

Zhao³

et al. 2021

Preprint

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As the key organ that separates humans from non-human primates, the brain has continuously evolved to adapt to the changes of environments and climates. Although human shares most genetic, molecular, and cellular features with other primates such as macaques, there are significant differences in the structure and function of the brain between humans and these species. Thus, exploring the differences between the brains of human and non-human primates in the context of evolution will provide insights into the development, functionality, and diseases of the human nervous system. Since the genes involved in many aspects of the human brain are under common pressures of natural selection, their evolutionary features can be analyzed collectively at the pathway-level. In this study, the molecular mechanisms underlying human brain capabilities were explored by comparing the evolutionary features of pathways enriched in genes expressed in the human brain and the macaque brain. 31 differentially expressed evolutionary pathways were identified in the brains of humans and macaques, among which included those related to neurological diseases, signal transduction, immunological response, and metabolic processes. By analyzing differentially expressed genes in brain regions or development stages between humans and macaques, 10 pathways and 4 pathways were found to have evolutionary distinctions, respectively. We further performed crosstalk analysis of pathways in order to obtain an intuitive correlation between the pathways, of which is helpful in understanding the mechanisms of interaction between pathways. Our results shed light on a comprehensive view of the evolutionary pathways of the human nervous system and provide a reference for the study of human brain development.

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“…From a population genetics standpoint, admixture, migrations and selection all have an impact on our understanding of the genetic contributions to risk of mental illness 5 .…”

Section: Introductionmentioning

confidence: 99%

Analysis of whole exome sequencing in severe mental illness hints at selection of brain development and immune related genes

Mahadevan

Pathak

Vemula

et al. 2021

Preprint

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Evolutionary trends may underlie some aspects of the risk for common, non-communicable disorders, including psychiatric disease. We analyzed whole exome sequencing data from 80 unique individuals from India coming from families with two or more individuals with severe mental illness. We used Population Branch Statistics (PBS) to identify variants and genes under positive selection and identified 75 genes as candidates for positive selection. Of these, 20 were previously associated with Schizophrenia, Alzheimers disease and cognitive abilities in genome wide association studies. We then checked whether any of these 75 genes were involved in common biological pathways or related to specific cellular or molecular functions. We found that immune related pathways and functions related to innate immunity such as antigen binding were over-represented. We also evaluated for the presence of Neanderthal introgressed segments in these genes and found Neanderthal introgression in a single gene out of the 75 candidate genes. However, the introgression pattern indicates the region is unlikely to be the source for selection. Our findings hint at how selection pressures in individuals from families with a history of severe mental illness may diverge from the general population. Further, it also provides insights into the genetic architecture of severe mental illness, such as schizophrenia and its link to immune factors.

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The evolution of the human brain and disease susceptibility

Cited by 41 publications

References 74 publications

The Ferret as a Model System for Neocortex Development and Evolution

The Ferret as a Model System for Neocortex Development and Evolution

Differentially Evolutionary Pathways and Their Interactions in Genes Expressed in Brain of Human and Macaque

Analysis of whole exome sequencing in severe mental illness hints at selection of brain development and immune related genes

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