Molecular and cellular reorganization of neural circuits in the human lineage

Sousa, André M. M.; Zhu, Ying; Raghanti, Mary Ann; Kitchen, Robert; Onorati, Marco; Tebbenkamp, Andrew T.N.; Stutz, Bernardo; Meyer, Kyle A.; Li, Mingfeng; Imamura, Yuka; Liu, Fuchen; García-Pérez, Raquel; Melé, Marta; Carvalho, Tiago; Škarica, Mario; Gulden, Forrest O.; Pletikos, Mihovil; Shibata, Akemi; Stephenson, Alexa R.; Edler, Melissa K.; Ely, John J.; Elsworth, John D.; Horváth, Tamas L.; Hof, Patrick R.; Hyde, Thomas M.; Kleinman, Joel E.; Weinberger, Daniel R.; Reimers, Mark; Lifton, Richard P.; Mane, Shrikant; Noonan, James P.; State, Matthew W.; Lein, Ed; Knowles, James A.; Marquès-Bonet, Tomàs; Sherwood, Chet C.; Gerstein, Mark; Šestan, Nenad

doi:10.1126/science.aan3456

Cited by 211 publications

(223 citation statements)

References 71 publications

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“…1H). Overall, in agreement with previous works [Sousa et al, 2017a;Xu et al, 2018], more differences mapped to the human lineage (the average n=712) than to the chimpanzee (n=641) or bonobo (n=640) lineages.…”

Section: Regional Analysis Of the Human-specific Gene Expression Diffsupporting

confidence: 92%

“…First, we compared gene expression levels that were obtained in our study with a previously published dataset containing 16 brain regions in human and non-human primates [Sousa et al, 2017a]. We employed the same read mapping and counting procedures as described above for RNA-seq reads from the National Center for Biotechnology Information BioProjects database, accession number PRJNA236446 [Sousa et al, 2017a]. The resulting TPM values were log2 transformed, and then quantile normalization was applied.…”

Section: Expression Differences Between Speciesmentioning

confidence: 99%

See 1 more Smart Citation

Single-cell-resolution transcriptome map of human, chimpanzee, bonobo, and macaque brains

Khrameeva

Kurochkin

Han

et al. 2019

Preprint

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Identification of gene expression traits unique to the human brain sheds light on the mechanisms of human cognition. Here we searched for gene expression traits separating humans from other primates by analyzing 88,047 cell nuclei and 422 tissue samples representing 33 brain regions of humans, chimpanzees, bonobos, and macaques. We show that gene expression evolves rapidly within cell types, with more than two-thirds of cell type-specific differences not detected using conventional RNA sequencing of tissue samples. Neurons tend to evolve faster in all hominids, but non-neuronal cell types, such as astrocytes and oligodendrocyte progenitors, show more differences on the human lineage, including alterations of spatial distribution across neocortical layers.

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Section: Regional Analysis Of the Human-specific Gene Expression Diffsupporting

confidence: 92%

Section: Expression Differences Between Speciesmentioning

confidence: 99%

Single-cell-resolution transcriptome map of human, chimpanzee, bonobo, and macaque brains

Khrameeva

Kurochkin

Han

et al. 2019

Preprint

Self Cite

View full text Add to dashboard Cite

show abstract

“…Sousa et al. () have reported that a type of dopaminergic interneuron exclusively exists in the human neocortex. These studies could be evidence supporting the possibility that changes in monoaminergic circuits have driven the evolution of both the brain and human behavior.…”

Section: Resultsmentioning

confidence: 99%

“…Raghanti et al (2018) demonstrated that the human striatum, a region of the brain modulating social behavior, exhibits unique neurochemical profile compared to other primates. Sousa et al (2017) have reported that a type of dopaminergic interneuron exclusively exists in the human neocortex. These studies could be evidence supporting the possibility that changes in monoaminergic circuits have driven the evolution of both the brain and human behavior.…”

Section: Discussionmentioning

confidence: 99%

Positive and balancing selection onSLC18A1gene associated with psychiatric disorders and human-unique personality traits

Sato

Kawata

2018

Evolution Letters

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Maintenance of genetic variants susceptible to psychiatric disorders is one of the intriguing evolutionary enigmas. The present study detects three psychiatric disorder‐relevant genes (CLSTN2, FAT1, and SLC18A1) that have been under positive selection during the human evolution. In particular, SLC18A1 (vesicular monoamine transporter 1; VMAT1) gene has a human‐unique variant (rs1390938, Thr136Ile), which is associated with bipolar disorders and/or the anxiety‐related personality traits. 136Ile shows relatively high (20–61%) frequency in non‐African populations, and Tajima's D reports a significant peak around the Thr136Ile site, suggesting that this polymorphism has been positively maintained by balancing selection in non‐African populations. Moreover, Coalescent simulations predict that 136Ile originated around 100,000 years ago, the time being generally associated with the Out‐of‐Africa migration of modern humans. Our study sheds new light on a gene in monoamine pathway as a strong candidate contributing to human‐unique psychological traits.

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“…In this sense, our parietal cortex and visuospatial functions can play a major role in the management of such interactions between the nervous system, the body interface, and technological resources [Bruner and Iriki, 2016]. Interestingly, a comprehensive analysis on neural circuits in primates evidenced major human changes in the genetic expression associated with the striatum, an element of the basal ganglia deeply involved in body management [Sousa et al, 2017].…”

Section: Visuospatial Integration and Body Cognitionmentioning

confidence: 99%

Human Paleoneurology and the Evolution of the Parietal Cortex

Bruner¹

2018

Brain Behav Evol

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Paleoneurology deals with the study of brain anatomy in fossil species, as inferred from the morphology of their endocranial features. When compared with other living and extinct hominids, Homo sapiens is characterized by larger parietal bones and, according to the paleoneurological evidence, also by larger parietal lobes. The dorsal elements of the posterior parietal cortex (superior parietal lobules, precuneus, and intraparietal sulcus) may be involved in these morphological changes. This parietal expansion was also associated with an increase in the corresponding vascular networks, and possibly with increased heat loads. Only H. sapiens has a specific early ontogenetic stage in which brain form achieves such globular appearance. In adult modern humans, the precuneus displays remarkable variation, being largely responsible for the longitudinal parietal size. The precuneus is also much more expanded in modern humans than in chimpanzees. Parietal expansion is not influenced by brain size in fossil hominids or living primates. Therefore, our larger parietal cortex must be interpreted as a derived feature. Spatial models suggest that the dorsal and anterior areas of the precuneus might be involved in these derived morphological variations. These areas are crucial for visuospatial integration, and are sensitive to both genetic and environmental influences. This article reviews almost 20 years of my collaborations on human parietal lobe evolution, integrating functional craniology, paleoneurology, and evolutionary neuroanatomy.

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Molecular and cellular reorganization of neural circuits in the human lineage

Cited by 211 publications

References 71 publications

Single-cell-resolution transcriptome map of human, chimpanzee, bonobo, and macaque brains

Single-cell-resolution transcriptome map of human, chimpanzee, bonobo, and macaque brains

Positive and balancing selection onSLC18A1gene associated with psychiatric disorders and human-unique personality traits

Human Paleoneurology and the Evolution of the Parietal Cortex

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