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Genesis: the Journal of Genetics and Development

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https://www.readbyqxmd.com/read/30207415/developmental-processes-regulate-craniofacial-variation-in-disease-and-evolution
#1
REVIEW
Fjodor Merkuri, Jennifer L Fish
Variation in development mediates phenotypic differences observed in evolution and disease. Although the mechanisms underlying phenotypic variation are still largely unknown, recent research suggests that variation in developmental processes may play a key role. Developmental processes mediate genotype-phenotype relationships and consequently play an important role regulating phenotypes. In this review, we provide an example of how shared and interacting developmental processes may explain convergence of phenotypes in spliceosomopathies and ribosomopathies...
September 12, 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/30155972/a-tale-of-two-cities-the-genetic-mechanisms-governing-calvarial-bone-development
#2
REVIEW
James Ferguson, Radhika P Atit
The skull bones must grow in a coordinated, three-dimensional manner to coalesce and form the head and face. Mammalian skull bones have a dual embryonic origin from cranial neural crest cells (CNCC) and paraxial mesoderm (PM) and ossify through intramembranous ossification. The calvarial bones, the bones of the cranium which cover the brain, are derived from the supraorbital arch (SOA) region mesenchyme. The SOA is the site of frontal and parietal bone morphogenesis and primary center of ossification. The objective of this review is to frame our current in vivo understanding of the morphogenesis of the calvarial bones and the gene networks regulating calvarial bone initiation in the SOA mesenchyme...
August 28, 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/30133140/a-chemotactic-model-of-trunk-neural-crest-cell-migration
#3
Louise Dyson, Alexander Holmes, Ang Li, Paul M Kulesa
Trunk neural crest cells follow a common ventral migratory pathway but are distributed into two distinct locations to form discrete sympathetic and dorsal root ganglia along the vertebrate axis. Although fluorescent cell labeling and time-lapse studies have recorded complex trunk neural crest cell migratory behaviors, the signals that underlie this dynamic patterning remain unclear. The absence of molecular information has led to a number of mechanistic hypotheses for trunk neural crest cell migration. Here, we review recent data in support of three distinct mechanisms of trunk neural crest cell migration and develop and simulate a computational model based on chemotactic signaling...
August 21, 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/30114334/a-gene-regulatory-network-anchored-by-lim-homeobox-1-lhx1-for-embryonic-head-development
#4
Tennille Sibbritt, Chi K Ip, Poh-Lynn Khoo, Emilie Wilkie, Vanessa Jones, Jane Q J Sun, Joanne X Shen, Guangdun Peng, Jing-Dong J Han, Naihe Jing, Pierre Osteil, Mirana Ramialison, Patrick P L Tam, Nicolas Fossat
Development of the embryonic head is driven by the activity of gene regulatory networks of transcription factors. LHX1 is a homeobox transcription factor that plays an essential role in the formation of the embryonic head. The loss of Lhx1 function results in anterior truncation of the embryo caused by the disruption of morphogenetic movement of tissue precursors and the dysregulation of WNT signaling activity. Profiling the gene expression pattern in the Lhx1 mutant embryo revealed that tissues in anterior germ layers acquire posterior tissue characteristics, suggesting Lhx1 activity is required for the allocation and patterning of head precursor tissues...
August 16, 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/30114331/expression-of-hbs-kirre-and-rst-during-drosophila-ovarian-development
#5
Felipe Berti Valer, Maiaro Cabral Rosa Machado, Rui Milton Patrício Silva-Junior, Ricardo Guelerman Pinheiro Ramos
The Irre cell-recognition module (IRM) is a group of evolutionarily conserved and structurally related transmembrane glycoproteins of the immunoglobulin superfamily. In Drosophila melanogaster, it comprises the products of the genes roughest (rst; also known as irreC-rst), kin-of-irre (kirre; also known as duf), sticks-and-stones (sns), and hibris (hbs). In this model organism, the behavior of this group of proteins as a partly redundant functional unit mediating selective cell recognition was demonstrated in a variety of developmental contexts, but their possible involvement in ovarian development and oogenesis has not been investigated, notwithstanding the fact that some rst mutant alleles are also female sterile...
August 16, 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/30113769/an-approach-for-controlling-the-timing-and-order-of-engineered-mutations-in-mice
#6
Maxwell M Goodrich, Ramzi Talhouk, Xiaojing Zhang, David W Goodrich
Significant advances in our understanding of normal development and disease have been facilitated by engineered mice in which genes can be altered in a spatially, temporally, or cell type restricted manner using site specific recombinase systems like Cre-loxP or Flp-frt. In many circumstances it is important to understand how interactions between multiple genes influence a given phenotype. Robust approaches for precisely controlling multiple genetic alterations independently are limited, however, thus the impact of mutation order and timing on phenotype is generally unknown...
August 16, 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/30113767/enhancer-activities-of-amphioxus-brachyury-genes-in-embryos-of-the-ascidian-ciona-intestinalis
#7
LETTER
Hitoshi Tominaga, Noriyuki Satoh, Naoto Ueno, Hiroki Takahashi
The notochord and somites are distinctive chordate structures. The T-box transcription factor gene, Brachyury, is expressed in notochord and plays a pivotal role in its formation. In the cephalochordate, Branchiostoma floridae, Brachyury is duplicated into BfBra1 and BfBra2, which are expressed in the somite-formation region as well. In a series of experiments to elucidate the regulatory machinery of chordate Brachyury expression, we carried out a lacZ reporter assay of BfBra in embryos of the urochordate, Ciona intestinalis...
August 16, 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/30096221/characterization-of-a-novel-drosophila-melanogaster-cis-regulatory-module-that-drives-gene-expression-to-the-larval-tracheal-system-and-adult-thoracic-musculature
#8
Jorge Victor Wilfredo Cachay Wester, Carlos Antonio Couto Lima, Maiaro Cabral Rosa Machado, Patrícia Vieira Zampar, Simone Sakagute Tavares, Nadia Monesi
In a previous bioinformatics analysis we identified 10 conserved Drosophila melanogaster sequences that reside upstream from protein coding genes (CGs). Here we characterize one of these genomic regions, which constitutes a Drosophila melanogaster cis-regulatory module (CRM) that we denominate TT-CRM. The TT-CRM is 646 bp long and is located in one of the introns of CG32239 and resides about 3,500 bp upstream of CG13711 and about 620 bp upstream of CG12493. Analysis of 646 bp-lacZ lines revealed that TT-CRM drives gene expression not only to the larval, prepupal, and pupal tracheal system but also to the adult dorsal longitudinal muscles...
August 10, 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/30010246/a-new-genetic-tool-to-improve-immune-compromised-mouse-models-derivation-and-crispr-cas9-mediated-targeting-of-nrg-embryonic-stem-cell-lines
#9
Javier Martin Gonzalez, Aurélie Baudet, Sahar Abelechian, Kasper Bonderup, Teresa d'Altri, Bo Porse, Cord Brakebusch, Gunnar Juliusson, Jörg Cammenga
Development of human hematopoietic stem cells and differentiation of embryonic stem (ES) cells/induced pluripotent stem (iPS) cells to hematopoietic stem cells are poorly understood. NOD (Non-obese diabetic)-derived mouse strains, such as NSG (NOD-Scid-il2Rg) or NRG (NOD-Rag1-il2Rg), are the best available models for studying the function of fetal and adult human hematopoietic cells as well as ES/iPS cell-derived hematopoietic stem cells. Unfortunately, engraftment of human hematopoietic stem cells is very variable in these models...
July 16, 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/30005136/mutational-analysis-of-a-drosophila-neuroblast-enhancer-governing-nubbin-expression-during-cns-development
#10
Jermaine Ross, Alexander Kuzin, Thomas Brody, Ward F Odenwald
While developmental studies of Drosophila neural stem cell lineages have identified transcription factors (TFs) important to cell identity decisions, currently only an incomplete understanding exists of the cis-regulatory elements that control the dynamic expression of these TFs. Our previous studies have identified multiple enhancers that regulate the POU-domain TF paralogs nubbin and pdm-2 genes. Evolutionary comparative analysis of these enhancers reveals that they each contain multiple conserved sequence blocks (CSBs) that span TF DNA-binding sites for known regulators of neuroblast (NB) gene expression in addition to novel sequences...
August 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/30004627/a-mouse-model-engineered-to-conditionally-express-the-progesterone-receptor-b-isoform
#11
Lan Hai, Maria M Szwarc, Margeaux Wetendorf, San-Pin Wu, Mary C Peavey, Sandra L Grimm, Dean P Edwards, Francesco J DeMayo, John P Lydon
Using a Rosa26 gene targeting strategy in mouse embryonic stem cells, we have generated a new transgenic mouse (Pgr-B LSL ), which is designed to conditionally express the epitope-tagged mouse progesterone receptor-B (PGR-B) isoform when crossed with a specific cre driver mouse. To functionally validate this transgenic mouse, we crossed the Pgr-B LSL mouse with the MMTV-CREA transgenic mouse to create the MMTV-CREA/Pgr-B LSL bigenic (termed PR-B:OE to denote PGR-B overexpressor). As expected, transgene-derived PGR-B protein was specifically targeted to the virgin mammary gland epithelium...
August 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/30134070/ectopic-expression-of-hoxb1-induces-cardiac-and-craniofacial-malformations
#12
Stéphane Zaffran, Gaëlle Odelin, Sonia Stefanovic, Fabienne Lescroart, Heather C Etchevers
Members of the large family of Hox transcription factors are encoded by genes whose tightly regulated expression in development and in space within different embryonic tissues confer positional identity from the neck to the tips of the limbs. Many structures of the face, head, and heart develop from cell populations expressing few or no Hox genes. Hoxb1 is the member of its chromosomal cluster expressed in the most rostral domain during vertebrate development, but never by the multipotent neural crest cell population anterior to the cerebellum...
June 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/30134069/neural-crest-and-the-origin-of-species-specific-pattern
#13
REVIEW
Richard A Schneider
For well over half of the 150 years since the discovery of the neural crest, the special ability of these cells to function as a source of species-specific pattern has been clearly recognized. Initially, this observation arose in association with chimeric transplant experiments among differentially pigmented amphibians, where the neural crest origin for melanocytes had been duly noted. Shortly thereafter, the role of cranial neural crest cells in transmitting species-specific information on size and shape to the pharyngeal arch skeleton as well as in regulating the timing of its differentiation became readily apparent...
June 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/30134068/neural-crest-notch-rbpj-signaling-regulates-olfactory-gliogenesis-and-neuronal-migration
#14
Sophie R Miller, Cristina Benito, Rhona Mirsky, Kristján R Jessen, Clare V H Baker
The neural crest-derived ensheathing glial cells of the olfactory nerve (OECs) are unique in spanning both the peripheral and central nervous systems: they ensheathe bundles of axons projecting from olfactory receptor neurons in the nasal epithelium to their targets in the olfactory bulb. OECs are clinically relevant as a promising autologous cell transplantation therapy for promoting central nervous system repair. They are also important for fertility, being required for the migration of embryonic gonadotropin-releasing hormone (GnRH) neurons from the olfactory placode along terminal nerve axons to the medial forebrain, which they enter caudal to the olfactory bulbs...
June 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/30134067/the-neural-crest-and-origin-of-the-neurocranium-in-vertebrates
#15
REVIEW
Shigeru Kuratani
Cranium of jawed vertebrates is composed of dorsal moiety that encapsulates the brain, or the neurocranium, and the is called the neurocranium, and the ventral moiety, the viscerocranium, that supports the pharynx. In modern jawed vertebrates (crown gnathostomes), the viscerocranium is predominantly of neural crest origin, and for the neurocranium, the rostral part is derived from neural crest cells, whereas the posterior part from the mesoderm. In the cyclostome cranium, the mesoderm/neural crest boundary of the neurocranium used to be enigmatic, let alone the morphological comparison of neurocranial between two cyclostome groups, lampreys and hagfishes...
June 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/30134066/rapamycin-rescues-bmp-mediated-midline-craniosynostosis-phenotype-through-reduction-of-mtor-signaling-in-a-mouse-model
#16
Kaitrin Kramer, Jingwen Yang, W Benton Swanson, Satoru Hayano, Masako Toda, Haichun Pan, Jin Koo Kim, Paul H Krebsbach, Yuji Mishina
Craniosynostosis is defined as congenital premature fusion of one or more cranial sutures. While the genetic basis for about 30% of cases is known, the causative genes for the diverse presentations of the remainder of cases are unknown. The recently discovered cranial suture stem cell population affords an opportunity to identify early signaling pathways that contribute to craniosynostosis. We previously demonstrated that enhanced BMP signaling in neural crest cells (caA3 mutants) leads to premature cranial suture fusion resulting in midline craniosynostosis...
June 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/30134065/historical-perspective-on-neuroembryology-wilhelm-his-and-his-contemporaries
#17
REVIEW
Jean-Claude Dupont
This year marks the 150th anniversary of the discovery of the neural crest by Wilhelm His (1831-1904). Beyond this discovery, His made possible the program of comparative anatomy at the cellular level thanks to the introduction in 1866 of the first microtome to have micrometer advance. His studies of the origin, migration, and fate of neural crest cells were foundational in the field of neuroembryology and contributed to the establishment of the neuron doctrine. The article places His' work in the scientific context of 19th century embryology, concerned with reconciling the embryonic layers theory, the cell theory and the evolution theory...
June 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/30134064/preface-celebrating-150-years-of-neural-crest-research
#18
Sophie Creuzet, Jean-Pierre Saint-Jeannet
No abstract text is available yet for this article.
June 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/29956448/tracking-neural-crest-cell-cycle-progression-in-vivo
#19
Sriivatsan G Rajan, Kristin L Gallik, James R Monaghan, Rosa A Uribe, Marianne E Bronner, Ankur Saxena
Analysis of cell cycle entry/exit and progression can provide fundamental insights into stem cell propagation, maintenance, and differentiation. The neural crest is a unique stem cell population in vertebrate embryos that undergoes long-distance collective migration and differentiation into a wide variety of derivatives. Using traditional techniques such as immunohistochemistry to track cell cycle changes in such a dynamic population is challenging, as static time points provide an incomplete spatiotemporal picture...
June 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/29675839/neural-crest-delamination-and-migration-looking-forward-to-the-next-150-years
#20
REVIEW
Nadège Gouignard, Cyril Andrieu, Eric Theveneau
Neural crest (NC) cells were described for the first time in 1868 by Wilhelm His. Since then, this amazing population of migratory stem cells has been intensively studied. It took a century to fully unravel their incredible abilities to contribute to nearly every organ of the body. Yet, our understanding of the cell and molecular mechanisms controlling their migration is far from complete. In this review, we summarize the current knowledge on epithelial-mesenchymal transition and collective behavior of NC cells and propose further stops at which the NC train might be calling in the near future...
June 2018: Genesis: the Journal of Genetics and Development
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