Developmental and evolutionary functions of a human‐specific gene duplication of SRGAP2 during brain development

2012 ◽  
Vol 30 (8) ◽  
pp. 668-668
Keyword(s):  
Gene Duplication ◽  
Brain Development ◽  
Specific Gene ◽  
Human Specific

ISDN2012_0241: Developmental and evolutionary functions of a human‐specific gene duplication of srGAP2 during brain development

2012 ◽  
Vol 30 (8) ◽  
pp. 628-628
Author(s):  
Cécile Charrier ◽  
Kaumudi Joshi ◽  
Takayuki Sassa ◽  
Jaeda Coutinho‐Budd ◽  
Nelle Lambert ◽  
...  
Keyword(s):  
Gene Duplication ◽  
Brain Development ◽  
Specific Gene ◽  
Human Specific

scholarly journals Molecular diversity and lineage commitment of human interneuron progenitors

2021 ◽  
Author(s):  
Dmitry Velmeshev ◽  
Manideep Chavali ◽  
Tomasz Jan Nowakowski ◽  
Mohini Bhade ◽  
Simone Mayer ◽  
...  
Keyword(s):  
Gene Expression ◽  
Single Cell ◽  
Autism Spectrum ◽  
Lineage Commitment ◽  
Proper Function ◽  
Specific Gene ◽  
Specific Cell ◽  
Cortical Interneurons ◽  
Human Specific ◽  
Interneuron Development

Cortical interneurons are indispensable for proper function of neocortical circuits. Changes in interneuron development and function are implicated in human disorders, such as autism spectrum disorder and epilepsy. In order to understand human-specific features of cortical development as well as the origins of neurodevelopmental disorders it is crucial to identify the molecular programs underlying human interneuron development and subtype specification. Recent studies have explored gene expression programs underlying mouse interneuron specification and maturation. We applied single-cell RNA sequencing to samples of second trimester human ganglionic eminence and developing cortex to identify molecularly defined subtypes of human interneuron progenitors and immature interneurons. In addition, we integrated this data from the developing human ganglionic eminences and neocortex with single-nucleus RNA-seq of adult cortical interneurons in order to elucidate dynamic molecular changes associated with commitment of progenitors and immature interneurons to mature interneuron subtypes. By comparing our data with published mouse single-cell genomic data, we discover a number of divergent gene expression programs that distinguish human interneuron progenitors from mouse. Moreover, we find that a number of transcription factors expressed during prenatal development become restricted to adult interneuron subtypes in the human but not the mouse, and these adult interneurons express species- and lineage-specific cell adhesion and synaptic genes. Therefore, our study highlights that despite the similarity of main principles of cortical interneuron development and lineage commitment between mouse and human, human interneuron genesis and subtype specification is guided by species-specific gene programs, contributing to human-specific features of cortical inhibitory interneurons.

Caste‐specific gene expression underlying the differential adult brain development in the honeybee Apis mellifera

2020 ◽  
Vol 30 (1) ◽  
pp. 42-56
Author(s):  
D. E. Paula Junior ◽  
M. T. Oliveira ◽  
J. J. Bruscadin ◽  
D. G. Pinheiro ◽  
A. D. Bomtorin ◽  
...  
Keyword(s):  
Gene Expression ◽  
Apis Mellifera ◽  
Brain Development ◽  
Adult Brain ◽  
Specific Gene ◽  
Specific Gene Expression

scholarly journals Papain-like cysteine proteases in Carica papaya: lineage-specific gene duplication and expansion

BMC Genomics ◽  
2018 ◽  
Vol 19 (1) ◽  
Author(s):  
Juan Liu ◽  
Anupma Sharma ◽  
Marie Jamille Niewiara ◽  
Ratnesh Singh ◽  
Ray Ming ◽  
...  
Keyword(s):  
Gene Duplication ◽  
Carica Papaya ◽  
Cysteine Proteases ◽  
Specific Gene ◽  
Lineage Specific Gene

Organoid single-cell genomic atlas uncovers human-specific features of brain development

Nature ◽  
2019 ◽  
Vol 574 (7778) ◽  
pp. 418-422 ◽  
Author(s):  
Sabina Kanton ◽  
Michael James Boyle ◽  
Zhisong He ◽  
Malgorzata Santel ◽  
Anne Weigert ◽  
...  
Keyword(s):  
Brain Development ◽  
Single Cell ◽  
Human Specific

Human-specific ARHGAP11B increases size and folding of primate neocortex in the fetal marmoset

Science ◽  
2020 ◽  
Vol 369 (6503) ◽  
pp. 546-550 ◽  
Author(s):  
Michael Heide ◽  
Christiane Haffner ◽  
Ayako Murayama ◽  
Yoko Kurotaki ◽  
Haruka Shinohara ◽  
...  
Keyword(s):  
Subventricular Zone ◽  
Radial Glia ◽  
Common Marmoset ◽  
Primate Evolution ◽  
Specific Gene ◽  
Mammalian Evolution ◽  
Human Promoter ◽  
Neocortical Development ◽  
The Common ◽  
Human Specific

The neocortex has expanded during mammalian evolution. Overexpression studies in developing mouse and ferret neocortex have implicated the human-specific gene ARHGAP11B in neocortical expansion, but the relevance for primate evolution has been unclear. Here, we provide functional evidence that ARHGAP11B causes expansion of the primate neocortex. ARHGAP11B expressed in fetal neocortex of the common marmoset under control of the gene’s own (human) promoter increased the numbers of basal radial glia progenitors in the marmoset outer subventricular zone, increased the numbers of upper-layer neurons, enlarged the neocortex, and induced its folding. Thus, the human-specific ARHGAP11B drives changes in development in the nonhuman primate marmoset that reflect the changes in evolution that characterize human neocortical development.

scholarly journals The human-specific paralogs SRGAP2B and SRGAP2C differentially modulate SRGAP2A-dependent synaptic development

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Ewoud R. E. Schmidt ◽  
Justine V. Kupferman ◽  
Michelle Stackmann ◽  
Franck Polleux
Keyword(s):  
Cortical Neurons ◽  
Molecular Mechanisms ◽  
Pyramidal Neurons ◽  
Specific Gene ◽  
Dependent Manner ◽  
Synaptic Development ◽  
Synaptic Density ◽  
Synonymous Mutations ◽  
Arginine Residues ◽  
Human Specific

AbstractHuman-specific gene duplications (HSGDs) have recently emerged as key modifiers of brain development and evolution. However, the molecular mechanisms underlying the function of HSGDs remain often poorly understood. In humans, a truncated duplication of SRGAP2A led to the emergence of two human-specific paralogs: SRGAP2B and SRGAP2C. The ancestral copy SRGAP2A limits synaptic density and promotes maturation of both excitatory (E) and inhibitory (I) synapses received by cortical pyramidal neurons (PNs). SRGAP2C binds to and inhibits all known functions of SRGAP2A leading to an increase in E and I synapse density and protracted synapse maturation, traits characterizing human cortical neurons. Here, we demonstrate how the evolutionary changes that led to the emergence of SRGAP2 HSGDs generated proteins that, in neurons, are intrinsically unstable and, upon hetero-dimerization with SRGAP2A, reduce SRGAP2A levels in a proteasome-dependent manner. Moreover, we show that, despite only a few non-synonymous mutations specifically targeting arginine residues, SRGAP2C is unique compared to SRGAP2B in its ability to induce long-lasting changes in synaptic density throughout adulthood. These mutations led to the ability of SRGAP2C to inhibit SRGAP2A function and thereby contribute to the emergence of human-specific features of synaptic development during evolution.

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