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Genesis: the Journal of Genetics and Development

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https://www.readbyqxmd.com/read/30418689/muscle-induced-loading-as-an-important-source-of-variation-in-craniofacial-skeletal-shape
#1
Andrew J Conith, Daniel T Lam, R Craig Albertson
The shape of the craniofacial skeleton is constantly changing through ontogeny, and reflects a balance between developmental patterning and mechanical-load induced remodeling. Muscles are a major contributor to producing the mechanical environment that is crucial for "normal" skull development. Here we use an F5 hybrid population of Lake Malawi cichlids to characterize the strength and types of associations between craniofacial bones and muscles. We focus on four bones/bone complexes, with different developmental origins, alongside four muscles with distinct functions...
November 12, 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/30381865/generation-and-characterization-of-megf6-null-and-cre-knock-in-alleles
#2
Ye Wang, Hejie Song, Wenfeng Wang, Zhen Zhang
Megf6, a member of MEGF (multiple EGF-like domains) protein family, is a conserved high molecular weight protein with 30 EGF-like domains. Although many members of the MEGF protein family are essential for embryonic development and homeostasis, the role of Megf6 in development and physiology is still unknown. Here, we generated Megf6-deficient mice using CRISPR-Cas9 technique and showed that Megf6 is dispensable for embryonic development. We also constructed the Megf6Cre allele to study Megf6-expressing cell lineages...
October 31, 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/30375740/generation-and-characterization-of-pathogenic-mab21l2-r51c-mouse-model
#3
Shun-Wa Tsang, Yanjiang Guo, Long-Hei Chan, Yingyu Huang, King L Chow
MAB21L2(R51C) is one of the five documented MAB21L2 mutations in human patients with bilateral eye malformations identified via whole exome sequencing. In addition to the eye abnormality, patients with MAB21L2R51C/+ mutation also have skeletal dysplasia and intellectual disability. To evaluate the pathology of this mutant allele systematically in understanding the functional role of MAB21L2 in human development, we introduce the R51C mutation into the mouse genome by CRISPR/Cas9 system to generate a mouse model for detailed characterization...
October 30, 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/30375719/efficient-genome-editing-using-crispr-cas-mediated-homology-directed-repair-in-the-ascidian-ciona-robusta
#4
C J Pickett, Robert W Zeller
Eliminating or silencing a gene's level of activity is one of the classic approaches developmental biologists employ to determine a gene's function. A recently developed method of gene perturbation called CRISPR-Cas, which was derived from a prokaryotic adaptive immune system, has been adapted for use in eukaryotic cells. This technology has been established in several model organisms as a powerful and efficient tool for knocking out or knocking down the function of a gene of interest. It has been recently shown that CRISPR-Cas functions with fidelity and efficiency in Ciona robusta...
October 30, 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/30375152/using-human-sequencing-to-guide-craniofacial-research
#5
Ryan P Liegel, Erin Finnerty, Lauren Ward, Andrew DiStasio, Robert B Hufnagel, Howard M Saal, Kristen L Sund, Cynthia A Prows, Rolf Stottmann
A recent convergence of technological innovations has re-energized the ability to apply genetics to research in human craniofacial development. Next-generation exome and whole genome sequencing have significantly dropped in price, making it relatively trivial to sequence and analyze patients and families with congenital craniofacial anomalies. A concurrent revolution in genome editing with the use of the CRISPR-Cas9 system enables the rapid generation of animal models, including mouse, which can precisely recapitulate human variants...
October 29, 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/30358076/gene-expression-patterns-determine-the-differential-numbers-of-dorsocentral-macrochaetes-between-m-domestica-and-d-melanogaster
#6
Qing Liang, Tingting Peng, Boyuan Sun, Jianbo Tu, Xingyi Cheng, Yuanliangzi Tian, Xiaolan Fan, Deying Yang, Uma Gaur, Mingyao Yang
The evolutionary differences in sensory bristle patterns on the thorax of dipterans are an excellent model for studying the patterns of evolutionary development. We observed that Drosophila melanogaster has two pairs of the large bristles, called macrochaetes, in the dorsocentral (DC) region of the notum, while Musca domestica retains six DC macrochaetes. To explore possible mechanism by which these two dipteran species have different numbers of DC bristles, we compared the corresponding protein sequences, the gene expression levels and the spatial expression patterns of five genes (scute, pnr, ush, hairy and emc) for bristle development between two species...
October 25, 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/30318758/lessons-from-drosophila-pointed-an-ets-family-transcription-factor-and-key-nuclear-effector-of-the-rtk-signaling-pathway
#7
REVIEW
Pavithra Vivekanand
The ETS family of transcription factors are evolutionarily conserved throughout the metazoan lineage and are critical for regulating cellular processes such as proliferation, differentiation, apoptosis, angiogenesis and migration. All members have an ETS DNA binding domain, while a subset also have a protein-protein interaction domain called the SAM domain. Pointed (Pnt), an ETS transcriptional activator functions downstream of the Receptor Tyrosine Kinase (RTK) signaling pathway to regulate diverse processes during the development of Drosophila...
October 14, 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/30307112/generation-of-mlc-2v-tdtomato-knock-in-reporter-mouse-line
#8
Zhentao Zhang, Young-Jae Nam
MLC-2v is a myosin light chain regulatory protein which is specifically expressed in ventricular cardiomyocytes and slow twitch skeletal muscle cells. MLC-2v plays critical roles in ventricular maturation during heart development. Mice lacking MLC-2v are embryonic lethal due to heart failure associated with abnormal myofibrillar organization of ventricular cardiomyocytes. To study the development of ventricular cardiac muscle and slow twitch skeletal muscle, we generated a new MLC-2v reporter mouse line by knocking-in a tdTomato reporter cassette into 3' UTR of the MLC-2v gene without disrupting the endogenous gene...
October 11, 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/30296002/the-extracellular-protease-adamts-b-inhibits-vein-formation-in-the-drosophila-wing
#9
Minh Ngoc Pham, Mark Schuweiler, Afshan Ismat
Vein patterning in the Drosophila wing provides a powerful tool to study regulation of various signaling pathways. Here we show that the ADAMTS extracellular protease AdamTS-B (CG4096) is expressed in the embryonic wing imaginal disc precursor cells and the wing imaginal disc, and functions to inhibit wing vein formation. Knock-down of AdamTS-B displayed posterior crossveins (PCVs) with either extra branches or deltas, or wider PCVs, and a wandering distal tip of the L5 longitudinal vein. Conversely, over-expression of AdamTS-B resulted in a complete absence of the PCV, an incomplete anterior crossvein, and missing distal end of the L5 longitudinal vein...
October 8, 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/30288928/raw-regulates-glial-population-of-the-eye-imaginal-disc
#10
LETTER
Victoria R Hans, Taylor I Wendt, Asmabanu M Patel, Mit M Patel, Luselena Perez, Danielle E Talbot, Jennifer C Jemc
Glia are critical for proper development, support, and function of the nervous system. The Drosophila eye has proven an excellent model for gaining significant insight into the molecular mechanisms regulating glial development and function. Recent studies have demonstrated that Raw is required in glia of the central and peripheral nervous systems; however, the function of Raw in glia of the developing eye has not been explored. These studies demonstrate that raw knockdown results in a reduction in the number of glia in the third instar eye imaginal disc and reduced glial spreading across the field of differentiating photoreceptor neurons...
October 4, 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/30264451/from-genome-to-anatomy-the-architecture-and-evolution-of-the-skeletogenic-gene-regulatory-network-of-sea-urchins-and-other-echinoderms
#11
REVIEW
Tanvi Shashikant, Jian Ming Khor, Charles A Ettensohn
The skeletogenic gene regulatory network (GRN) of sea urchins and other echinoderms is one of the most intensively studied transcriptional networks in any developing organism. As such, it serves as a pre-eminent model of GRN architecture and evolution. This review summarizes our current understanding of this developmental network. We describe in detail the most comprehensive model of the skeletogenic GRN, one developed for the euechinoid sea urchin Strongylocentrotus purpuratus, including its initial deployment by maternal inputs, its elaboration and stabilization through regulatory gene interactions, and its control of downstream effector genes that directly drive skeletal morphogenesis...
September 27, 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/30253032/a-requirement-for-fgfr2-in-middle-ear-development
#12
Diana Rigueur, Ryan R Roberts, Lauren Bobzin, Amy E Merrill
The skeletal structure of the mammalian middle ear, which is composed of three endochondral ossicles suspended within a membranous air-filled capsule, plays a critical role in conducting sound. Gene mutations that alter skeletal development in the middle ear result in auditory impairment. Mutations in fibroblast growth factor receptor 2 (FGFR2), an important regulator of endochondral and intramembranous bone formation, cause a spectrum of congenital skeletal disorders featuring conductive hearing loss. Although the middle ear malformations in multiple FGFR2 gain-of-function disorders are clinically characterized, those in the FGFR2 loss-of-function disorder lacrimo-auriculo-dento-digital (LADD) syndrome are relatively undescribed...
September 25, 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/30246928/regulation-of-notch-signaling-in-the-developing-drosophila-eye-by-a-t-box-containing-transcription-factor-dorsocross
#13
Maimuna Sali Paul, Debdeep Dutta, Ankita Singh, Mousumi Mutsuddi, Ashim Mukherjee
Owing to a multitude of functions, there is barely a tissue or a cellular process that is not being regulated by Notch signaling. To allow the Notch signal to be deployed in numerous contexts, many different mechanisms have evolved to regulate the level, duration and spatial distribution of Notch activity. To identify novel effectors of Notch signaling in Drosophila melanogaster, we analyzed the whole transcriptome of the wing and eye imaginal discs in which an activated form of Notch was overexpressed. Selected candidate genes from the transcriptome analysis were subjected to genetic interaction experiments with Notch pathway components...
September 24, 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/30207415/developmental-processes-regulate-craniofacial-variation-in-disease-and-evolution
#14
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
#15
REVIEW
James W 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
#16
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...
September 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/30114334/a-gene-regulatory-network-anchored-by-lim-homeobox-1-for-embryonic-head-development
#17
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...
September 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/30114331/expression-of-hbs-kirre-and-rst-during-drosophila-ovarian-development
#18
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...
September 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
#19
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...
September 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
#20
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 2018: Genesis: the Journal of Genetics and Development
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