GNAQ Q209L expression initiated in multipotent neural crest cells drives aggressive melanoma of the central nervous system

2019 ◽  
Vol 33 (1) ◽  
pp. 96-111 ◽  
Author(s):  
Oscar Urtatiz ◽  
Courtney Cook ◽  
Jenny L.‐Y. Huang ◽  
Iwei Yeh ◽  
Catherine D. Van Raamsdonk
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Neural Crest ◽  
Neural Crest Cells ◽  
The Central Nervous System

scholarly journals PlexinA2 and semaphorin signaling during cardiac neural crest development

Development ◽  
2001 ◽  
Vol 128 (16) ◽  
pp. 3071-3080 ◽  
Author(s):  
Christopher B. Brown ◽  
Leonard Feiner ◽  
Min-Min Lu ◽  
Jun Li ◽  
Xiaokui Ma ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Neural Crest ◽  
Congenital Heart ◽  
Neural Crest Cells ◽  
Model Systems ◽  
Cardiac Neural Crest ◽  
Neural Crest Development ◽  
The Central Nervous System ◽  
Mouse Lines

Classic studies using avian model systems have demonstrated that cardiac neural crest cells are required for proper development of the cardiovascular system. Environmental influences that perturb neural crest development cause congenital heart defects in laboratory animals and in man. However, little progress has been made in determining molecular programs specifically regulating cardiac neural crest migration and function. Only recently have complex transgenic tools become available that confirm the presence of cardiac neural crest cells in the mammalian heart. These studies have relied upon the use of transgenic mouse lines and fate-mapping studies using Cre recombinase and neural crest-specific promoters. In this study, we use these techniques to demonstrate that PlexinA2 is expressed by migrating and postmigratory cardiac neural crest cells in the mouse. Plexins function as co-receptors for semaphorin signaling molecules and mediate axon pathfinding in the central nervous system. We demonstrate that PlexinA2-expressing cardiac neural crest cells are patterned abnormally in several mutant mouse lines with congenital heart disease including those lacking the secreted signaling molecule Semaphorin 3C. These data suggest a parallel between the function of semaphorin signaling in the central nervous system and in the patterning of cardiac neural crest in the periphery.

Chick Sox10, a transcription factor expressed in both early neural crest cells and central nervous system

2000 ◽  
Vol 121 (2) ◽  
pp. 233-241 ◽  
Author(s):  
Yi-Chuan Cheng ◽  
Martin Cheung ◽  
Muhammad M. Abu-Elmagd ◽  
Alex Orme ◽  
Paul J. Scotting
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Transcription Factor ◽  
Neural Crest ◽  
Neural Crest Cells

scholarly journals Meningeal Melanocytoma:

2001 ◽  
Vol 20 (1) ◽  
pp. 79-83
Author(s):  
Anderson Kuntz Grzesiuk ◽  
Alexandre da Rocha Serra ◽  
Roger Thomaz Rotta Medeiros
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Neural Crest ◽  
Malignant Transformation ◽  
Leptomeningeal Dissemination ◽  
Review Of The Literature ◽  
Rare Type ◽  
Meningeal Melanocytoma ◽  
The Central Nervous System

Meningeal melanocytoma is a rare type of benign pigmented tumor of the central nervous system that derives from leptomeningeal me­lanocytes, which originate from the neural crest. These tumors are commonly focal, but there are descriptions of multifocal forms in the literature, and reports of malignant transformation, with leptomenin­geal dissemination. In this paper, a case of meningeal melanocytoma with leptomeningeal dissemination is reported and, based on a review of the literature, comments on the diagnostic and therapeutic difficul­ties relating to this disease are made.

scholarly journals Investigating Primary Cilia during Peripheral Nervous System Formation

2021 ◽  
Author(s):  
Elkhan Yusifov ◽  
Alexandre Dumoulin ◽  
Esther T. Stoeckli
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Neural Crest ◽  
Peripheral Nervous System ◽  
Primary Cilium ◽  
Developmental Disorders ◽  
Neural Crest Cells ◽  
Neuronal Cultures ◽  
System Formation

The primary cilium plays a pivotal role during embryonic development of vertebrates. It acts as a somatic signaling hub for specific pathways, such as sonic hedgehog signaling. In humans, mutations in genes that cause dysregulation of ciliogenesis or ciliary function lead to severe developmental disorders called ciliopathies. Beyond its obvious role in early morphogenesis, growing evidence points towards an essential function of the primary cilium in neural circuit formation in the central nervous system. However, very little is known about a potential role in the formation of the peripheral nervous system. Here, we investigated the presence of the primary cilium in neural crest cells and their derivatives in the trunk of the developing chicken embryo in vivo. We found that neural crest cells, sensory neurons, and boundary cap cells all bear a primary cilium during key stages of early peripheral nervous system formation. Moreover, we described differences in the ciliation of neuronal cultures of different populations from the peripheral and central nervous system. Our results offer a framework for further in vivo and in vitro investigations on specific roles that the primary cilium might play during peripheral nervous system formation.

Pigmented Lesions of the Nervous System and the Neural Crest

Neurosurgery ◽  
2015 ◽  
Vol 78 (1) ◽  
pp. 142-155 ◽  
Author(s):  
Pankaj K. Agarwalla ◽  
Matthew J. Koch ◽  
Daniel A. Mordes ◽  
Patrick J. Codd ◽  
Jean-Valery Coumans
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Neural Crest ◽  
Neural Crest Cell ◽  
Future Research ◽  
Migration Routes ◽  
Pigmented Lesions ◽  
Neural Crest Cell Migration ◽  
The Central Nervous System ◽  
Crest Cell

AbstractNeurosurgeons encounter a number of pigmented tumors of the central nervous system in a variety of locations, including primary central nervous system melanoma, blue nevus of the spinal cord, and melanotic schwannoma. When examined through the lens of embryology, pigmented lesions share a unifying connection: They occur in structures that are neural crest cell derivatives. Here, we review the important progress made in the embryology of neural crest cells, present 3 cases of pigmented tumors of the nervous system, and discuss these clinical entities in the context of the development of melanoblasts. Pigmented lesions of the nervous system arise along neural crest cell migration routes and from neural crest-derived precursors. Awareness of the evolutionary clues of vertebrate pigmentation by the neurosurgical and neuro-oncological community at large is valuable for identifying pathogenic or therapeutic targets and for designing future research on nervous system pigmented lesions. When encountering such a lesion, clinicians should be aware of the embryological basis to direct additional evaluation, including genetic testing, and to work with the scientific community in better understanding these lesions and their relationship to neural crest developmental biology.

scholarly journals Dysgenesis of cephalic neural crest derivatives in Pax7−/− mutant mice

Development ◽  
1996 ◽  
Vol 122 (3) ◽  
pp. 831-838 ◽  
Author(s):  
A. Mansouri ◽  
A. Stoykova ◽  
M. Torres ◽  
P. Gruss
Keyword(s):  
Skeletal Muscle ◽  
Central Nervous System ◽  
Nervous System ◽  
Neural Crest ◽  
System Development ◽  
Embryonic Stem ◽  
Nervous System Development ◽  
Central Nervous System Development ◽  
The Central Nervous System

Pax7 is a member of the paired box containing gene family. Its expression pattern suggests a function in cephalic neural crest derivatives, skeletal muscle and central nervous system development. To understand the role of Pax7 during mouse embryogenesis, we used the homologous recombination technique in embryonic stem cells and generated Pax7−/− mice. Homozygous animals are born but die shortly afer weaning. They exhibit malformations in facial structures involving the maxilla and nose. Our analysis suggests that the observed phenotype is due to a cephalic neural crest defect. No obvious phenotype could be detected in the central nervous system and skeletal muscle. Functional redundancy between Pax7 and Pax3 is discussed.

scholarly journals Lack of the Central Nervous System- and Neural Crest-Expressed Forkhead Gene Foxs1 Affects Motor Function and Body Weight

2005 ◽  
Vol 25 (13) ◽  
pp. 5616-5625 ◽  
Author(s):  
Mikael Heglind ◽  
Anna Cederberg ◽  
Jorge Aquino ◽  
Guilherme Lucas ◽  
Patrik Ernfors ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Body Weight ◽  
Neural Crest ◽  
Expression Pattern ◽  
Motor Function ◽  
Reporter Gene ◽  
Uncoupling Protein ◽  
The Central Nervous System ◽  
Ganglion Neurons

ABSTRACT To gain insight into the expression pattern and functional importance of the forkhead transcription factor Foxs1, we constructed a Foxs1-β-galactosidase reporter gene “knock-in” (Foxs1 β-gal/β-gal ) mouse, in which the wild-type (wt) Foxs1 allele has been inactivated and replaced by a β-galactosidase reporter gene. Staining for β-galactosidase activity reveals an expression pattern encompassing neural crest-derived cells, e.g., cranial and dorsal root ganglia as well as several other cell populations in the central nervous system (CNS), most prominently the internal granule layer of cerebellum. Other sites of expression include the lachrymal gland, outer nuclear layer of retina, enteric ganglion neurons, and a subset of thalamic and hypothalamic nuclei. In the CNS, blood vessel-associated smooth muscle cells and pericytes stain positive for Foxs1. Foxs1 β-gal/β-gal mice perform significantly better (P < 0.01) on a rotating rod than do wt littermates. We have also noted a lower body weight gain (P < 0.05) in Foxs1 β-gal/lβ-gal males on a high-fat diet, and we speculate that dorsomedial hypothalamic neurons, expressing Foxs1, could play a role in regulating body weight via regulation of sympathetic outflow. In support of this, we observed increased levels of uncoupling protein 1 mRNA in Foxs1 β-gal/β-gal mice. This points toward a role for Foxs1 in the integration and processing of neuronal signals of importance for energy turnover and motor function.

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