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.

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.

In vitro and in vivo differentiation of boundary cap neural crest stem cells into mature Schwann cells

2006 ◽  
Vol 198 (2) ◽  
pp. 438-449 ◽  
Author(s):  
Jorge B. Aquino ◽  
Jens Hjerling-Leffler ◽  
Martin Koltzenburg ◽  
Thomas Edlund ◽  
Marcelo J. Villar ◽  
...  
Keyword(s):  
Stem Cells ◽  
Neural Crest ◽  
Schwann Cells ◽  
Neural Crest Stem Cells ◽  
In Vivo Differentiation

scholarly journals Lineage-specific requirements of β-catenin in neural crest development

2002 ◽  
Vol 159 (5) ◽  
pp. 867-880 ◽  
Author(s):  
Lisette Hari ◽  
Véronique Brault ◽  
Maurice Kléber ◽  
Hye-Youn Lee ◽  
Fabian Ille ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Neural Crest ◽  
Neural Crest Cells ◽  
Neural Crest Stem Cells ◽  
Downstream Signaling ◽  
Neural Crest Development ◽  
Sensory Neurogenesis

β-Catenin plays a pivotal role in cadherin-mediated cell adhesion. Moreover, it is a downstream signaling component of Wnt that controls multiple developmental processes such as cell proliferation, apoptosis, and fate decisions. To study the role of β-catenin in neural crest development, we used the Cre/loxP system to ablate β-catenin specifically in neural crest stem cells. Although several neural crest–derived structures develop normally, mutant animals lack melanocytes and dorsal root ganglia (DRG). In vivo and in vitro analyses revealed that mutant neural crest cells emigrate but fail to generate an early wave of sensory neurogenesis that is normally marked by the transcription factor neurogenin (ngn) 2. This indicates a role of β-catenin in premigratory or early migratory neural crest and points to heterogeneity of neural crest cells at the earliest stages of crest development. In addition, migratory neural crest cells lateral to the neural tube do not aggregate to form DRG and are unable to produce a later wave of sensory neurogenesis usually marked by the transcription factor ngn1. We propose that the requirement of β-catenin for the specification of melanocytes and sensory neuronal lineages reflects roles of β-catenin both in Wnt signaling and in mediating cell–cell interactions.

scholarly journals Neural crest cell migration: requirements for exogenous fibronectin and high cell density.

1983 ◽  
Vol 96 (2) ◽  
pp. 462-473 ◽  
Author(s):  
R A Rovasio ◽  
A Delouvee ◽  
K M Yamada ◽  
R Timpl ◽  
J P Thiery
Keyword(s):  
Cell Adhesion ◽  
Neural Crest ◽  
Type I Collagen ◽  
Neural Crest Cell ◽  
Neural Crest Cells ◽  
Type I ◽  
Cell Adhesion And Migration ◽  
And Migration ◽  
Crest Cell

Cells of the neural crest participate in a major class of cell migratory events during embryonic development. From indirect evidence, it has been suggested that fibronectin (FN) might be involved in these events. We have directly tested the role of FN in neural crest cell adhesion and migration using several in vitro model systems. Avian trunk neural crest cells adhered readily to purified plasma FN substrates and to extracellular matrices containing cellular FN. Their adhesion was inhibited by antibodies to a cell-binding fragment of FN. In contrast, these cells did not adhere to glass, type I collagen, or to bovine serum albumin in the absence of FN. Neural crest cell adhesion to laminin (LN) was significantly less than to FN; however, culturing of crest cells under conditions producing an epithelioid phenotype resulted in cells that could bind equally as well to LN as to FN. The migration of neural crest cells appeared to depend on both the substrate and the extent of cell interactions. Cells migrated substantially more rapidly on FN than on LN or type I collagen substrates; if provided a choice between stripes of FN and glass or LN, cells migrated preferentially on the FN. Migration was inhibited by antibodies against the cell-binding region of FN, and the inhibition could be reversed by a subsequent addition of exogenous FN. However, the migration on FN was random and displayed little persistence of direction unless cells were at high densities that permitted frequent contacts. The in vitro rate of migration of cells on FN-containing matrices was 50 microns/h, similar to their migration rates along the narrow regions of FN-containing extracellular matrix in migratory pathways in vivo. These results indicate that FN is important for neural crest cell adhesion and migration and that the high cell densities of neural crest cells in the transient, narrow migratory pathways found in the embryo are necessary for effective directional migration.

scholarly journals Neural crest stem cells can be induced in vitro from human-induced pluripotent stem cells using a novel protocol free of feeder cells

2021 ◽  
Vol 16 (3) ◽  
pp. 143-147
Author(s):  
Rei Abe ◽  
Kazuyo Yamauchi ◽  
Kazuki Kuniyoshi ◽  
Takane Suzuki ◽  
Yusuke Matsuura ◽  
...  
Keyword(s):  
Stem Cells ◽  
Neural Crest ◽  
Induced Pluripotent Stem Cells ◽  
Pluripotent Stem Cells ◽  
Feeder Cells ◽  
Neural Crest Stem Cells ◽  
Induced Pluripotent

N-myc induces transformation of neural crest stem cells in vitro and in vivo

2009 ◽  
Vol 221 (03) ◽  
Author(s):  
AM Bohrer ◽  
E Mahlow ◽  
J Maurer ◽  
H Schorle ◽  
A Schramm ◽  
...  
Keyword(s):  
Stem Cells ◽  
Neural Crest ◽  
Neural Crest Stem Cells

Postnatal neural crest stem cells from hair follicle interact with nerve tissue in vitro and in vivo

2018 ◽  
Vol 54 ◽  
pp. 94-104 ◽  
Author(s):  
Anastasiia Kosykh ◽  
Arkadii Beilin ◽  
Kirill Sukhinich ◽  
Ekaterina Vorotelyak
Keyword(s):  
Stem Cells ◽  
Neural Crest ◽  
Hair Follicle ◽  
Nerve Tissue ◽  
Neural Crest Stem Cells

scholarly journals The neural crest stem cells: control of neural crest cell fate and plasticity by endothelin-3

2001 ◽  
Vol 73 (4) ◽  
pp. 533-545 ◽  
Author(s):  
ELISABETH DUPIN ◽  
CARLA REAL ◽  
NICOLE LeDOUARIN
Keyword(s):  
Stem Cells ◽  
Neural Crest ◽  
Cell Fate ◽  
Neural Crest Cell ◽  
Cell Types ◽  
The Body ◽  
Neural Crest Stem Cells ◽  
Environmental Signals

How the considerable diversity of neural crest (NC)-derived cell types arises in the vertebrate embryo has long been a key question in developmental biology. The pluripotency and plasticity of differentiation of the NC cell population has been fully documented and it is well-established that environmental cues play an important role in patterning the NC derivatives throughout the body. Over the past decade, in vivo and in vitro cellular approaches have unravelled the differentiation potentialities of single NC cells and led to the discovery of NC stem cells. Although it is clear that the final fate of individual cells is in agreement with their final position within the embryo, it has to be stressed that the NC cells that reach target sites are pluripotent and further restrictions occur only late in development. It is therefore a heterogenous collection of cells that is submitted to local environmental signals in the various NC-derived structures. Several factors were thus identified which favor the development of subsets of NC-derived cells in vitro. Moreover, the strategy of gene targeting in mouse has led at identifying new molecules able to control one or several aspects of NC cell differentiation in vivo. Endothelin peptides (and endothelin receptors) are among those. The conjunction of recent data obtained in mouse and avian embryos and reviewed here contributes to a better understanding of the action of the endothelin signaling pathway in the emergence and stability of NC-derived cell phenotypes.

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