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Martino Ruggieri, Andrea D Praticò, Rosario Caltabiano, Agata Polizzi
The earliest examples of neurofibromatosis (in this case type 1, NF1) can be traced in the Ebers Papyrus (Ancient Egypt, 1.500 B.C.), in a Hellenistic statuette (Smyrna, 323 B.C.), in the coinage of the Parthians kings (247 B.C.) and in some 13th century monks' drawings. These earlier examples are somewhat less well defined as compared to the most recent better defined reports credited as having NF1 including an Inca child mummy (1480-1650 AD), Ulisse Aldrovandi's homuncio ("Monstrorum Historia", 1592 A.D.) with mosaic NF1 or the illustrations seen in the 18th century "Buffon's Histoire Naturelle" and "Cruveilhier's Anatomie Pathologique du Corps Human"...
February 1, 2018: American Journal of Medical Genetics. Part A
Montserrat Torres-Oliva, Julia Schneider, Gordon Wiegleb, Felix Kaufholz, Nico Posnien
Drosophila melanogaster head development represents a valuable process to study the developmental control of various organs, such as the antennae, the dorsal ocelli and the compound eyes from a common precursor, the eye-antennal imaginal disc. While the gene regulatory network underlying compound eye development has been extensively studied, the key transcription factors regulating the formation of other head structures from the same imaginal disc are largely unknown. We obtained the developmental transcriptome of the eye-antennal discs covering late patterning processes at the late 2nd larval instar stage to the onset and progression of differentiation at the end of larval development...
January 23, 2018: PLoS Genetics
Kenneth A Barr, Carlos Martinez, Jennifer R Moran, Ah-Ram Kim, Alexandre F Ramos, John Reinitz
BACKGROUND: Models that incorporate specific chemical mechanisms have been successful in describing the activity of Drosophila developmental enhancers as a function of underlying transcription factor binding motifs. Despite this, the minimum set of mechanisms required to reconstruct an enhancer from its constituent parts is not known. Synthetic biology offers the potential to test the sufficiency of known mechanisms to describe the activity of enhancers, as well as to uncover constraints on the number, order, and spacing of motifs...
November 29, 2017: BMC Systems Biology
Kenichiro Kasahara, Yachiyo Fukunaga, Saori Igura, Rie Andoh, Tsubasa Saito, Isamu Suzuki, Hiroyuki Kanemitsu, Daisuke Suzuki, Ken Goto, Daichi Nakamura, Masahiro Mochizuki, Masahiko Yasuda, Ryo Inoue, Kazutoshi Tamura, Mariko Nagatani
To obtain background data of NOD/Shi-scid IL-2Rγ(null) (NOG) mice, severely immunedeficient mice, a total of 120 animals were examined at 7, 26 and 52 weeks-old (20 mice/sex/group). The survival rate at 52 weeks-old was 95% (19/20) in both sexes. Clinically, circling behavior in one direction along the cage wall was observed in males after 8 weeks and females after 47 weeks-old, and hunchback position was found in males after 32 weeks-old. Hematologically, lymphocyte count markedly decreased at all ages, while white blood cell count increased in several mice at 52 weeks-old...
2017: Journal of Toxicological Sciences
Chuma Kevin Owuamalam, Mark Rubin
Owuamalam, Weerabangsa, Karunagharan and Rubin found that Malaysians associate people in low status groups with anger more than their higher status counterparts: the hunchback heuristic. But is this belief accurate? Here, we propose the alternative possibility that members of low-status groups might deliberately suppress anger to counter this stigma, while members of high-status groups might disinhibit their anger to assert their superiority. To test these propositions, we manipulated undergraduate students' relative group status by leading them to believe that provocative comments about their undergraduate social identity came from a professor (low-status condition) or a junior foundation year student (high-status condition)...
October 2017: Scandinavian Journal of Psychology
Mattia Andreotti, Gaetano Caruso, Leo Massari, Michele Augusto Riva
: The librettos of several of the most famous Romantic operas contain references to disease. These operas can serve as valuable sources of information regarding how spinal deformities were understood during the nineteenth century by physicians and lay persons alike. Original librettos of the operas "Rigoletto" (1851) by Giuseppe Verdi (1813-1901) and "La Esmeralda" (1836) by Louise Bertin (1805-1877) were analyzed. In both operas, spinal deformities of Rigoletto and Quasimodo are a central issue. In detail, Quasimodo could suffer from von Recklinghausen's neurofibromatosis, while Rigoletto could be affected by sever adolescent idiopathic scoliosis...
August 29, 2017: Spine
David M Holloway, Alexander V Spirov
Anterior-posterior (AP) body segmentation of the fruit fly (Drosophila) is first seen in the 7-stripe spatial expression patterns of the pair-rule genes, which regulate downstream genes determining specific segment identities. Regulation of pair-rule expression has been extensively studied for the even-skipped (eve) gene. Recent live imaging, of a reporter for the 2nd eve stripe, has demonstrated the stochastic nature of this process, with 'bursts' in the number of RNA transcripts being made over time. We developed a stochastic model of the spatial and temporal expression of eve stripe 2 (binding by transcriptional activators (Bicoid and Hunchback proteins) and repressors (Giant and Krüppel proteins), transcriptional initiation and termination; with all rate parameters constrained by features of the experimental data) in order to analyze the noisy experimental time series and test hypotheses for how eve transcription is regulated...
2017: PloS One
Bruna Demari-Silva, Laura Cristina Multini, Lincoln Suesdek, Tatiane M P Oliveira, Maria Anice Mureb Sallum, Mauro Toledo Marrelli
Culex coronator Dyar and Knab and Culex usquatus Dyar belong to the Coronator Group of the subgenus Culex. Culex coronator and Cx. usquatus are widespread and sympatric throughout their distribution range, which includes Brazil. Morphological identification of these species is based primarily on the characteristics of the male genitalia; females are indistinguishable using the qualitative characteristics employed in identification keys. The primary objective of this study was to distinguish females of Cx. coronator from those of Cx...
July 1, 2017: Journal of Medical Entomology
René M Arvola, Chase A Weidmann, Traci M Tanaka Hall, Aaron C Goldstrohm
Eukaryotes possess a vast array of RNA-binding proteins (RBPs) that affect mRNAs in diverse ways to control protein expression. Combinatorial regulation of mRNAs by RBPs is emerging as the rule. No example illustrates this as vividly as the partnership of 3 Drosophila RBPs, Pumilio, Nanos and Brain Tumor, which have overlapping functions in development, stem cell maintenance and differentiation, fertility and neurologic processes. Here we synthesize 30 y of research with new insights into their molecular functions and mechanisms of action...
March 20, 2017: RNA Biology
Peter A Combs, Michael B Eisen
Patterning in the Drosophila melanogaster embryo is affected by multiple maternal factors, but the effect of these factors on spatial gene expression has not been systematically analyzed. Here we characterize the effect of the maternal factors Zelda, Hunchback and Bicoid by cryosectioning wildtype and mutant blastoderm stage embryos and sequencing mRNA from each slice. The resulting atlas of spatial gene expression highlights the intersecting roles of these factors in regulating spatial patterns, and serves as a resource for researchers studying spatial patterning in the early embryo...
2017: F1000Research
Keiko Hirono, Minoree Kohwi, Matt Q Clark, Ellie S Heckscher, Chris Q Doe
BACKGROUND: Drosophila and mammalian neural progenitors typically generate a diverse family of neurons in a stereotyped order. Neuronal diversity can be generated by the sequential expression of temporal transcription factors. In Drosophila, neural progenitors (neuroblasts) sequentially express the temporal transcription factors Hunchback (Hb), Kruppel, Pdm, and Castor. Hb is necessary and sufficient to specify early-born neuronal identity in multiple lineages, and is maintained in the post-mitotic neurons produced during each neuroblast expression window...
January 31, 2017: Neural Development
Emiliano Perez Ipiña, Silvina Ponce Dawson
During early development, the establishment of gradients of transcriptional factors determines the patterning of cell fates. The case of Bicoid (Bcd) in Drosophila melanogaster embryos is well documented and studied. There are still controversies as to whether SDD models in which Bcd is Synthesized at one end, then Diffuses and is Degraded can explain the gradient formation within the timescale observed experimentally. The Bcd gradient is observed in embryos that express a Bicoid-eGFP fusion protein (Bcd-GFP) which cannot differentiate if Bcd is freely diffusing or bound to immobile sites...
February 8, 2017: Physical Biology
Ana M Vélez, Elane Fishilevich, Natalie Matz, Nicholas P Storer, Kenneth E Narva, Blair D Siegfried
Parental RNAi (pRNAi) is an RNA interference response where the gene knockdown phenotype is observed in the progeny of the treated organism. pRNAi has been demonstrated in female western corn rootworms (WCR) via diet applications and has been described as a potential approach for rootworm pest management. However, it is not clear if plant-expressed pRNAi can provide effective control of next generation WCR larvae in the field. In this study, we evaluated parameters required to generate a successful pRNAi response in WCR for the genes brahma and hunchback...
December 24, 2016: Genes
Jonathan Desponds, Huy Tran, Teresa Ferraro, Tanguy Lucas, Carmina Perez Romero, Aurelien Guillou, Cecile Fradin, Mathieu Coppey, Nathalie Dostatni, Aleksandra M Walczak
The simultaneous expression of the hunchback gene in the numerous nuclei of the developing fly embryo gives us a unique opportunity to study how transcription is regulated in living organisms. A recently developed MS2-MCP technique for imaging nascent messenger RNA in living Drosophila embryos allows us to quantify the dynamics of the developmental transcription process. The initial measurement of the morphogens by the hunchback promoter takes place during very short cell cycles, not only giving each nucleus little time for a precise readout, but also resulting in short time traces of transcription...
December 2016: PLoS Computational Biology
Tsung-Ting Tsai, Chia-Ling Chen, Yee-Shin Lin, Chih-Peng Chang, Cheng-Chieh Tsai, Yi-Lin Cheng, Chao-Ching Huang, Chien-Jung Ho, Yi-Chao Lee, Liang-Tzung Lin, Ming-Kai Jhan, Chiou-Feng Lin
Patients with dengue virus (DENV) infection may also present acute viral encephalitis through an unknown mechanism. Here, we report that encephalitic DENV-infected mice exhibited progressive hunchback posture, limbic seizures, limbic weakness, paralysis, and lethality 7 days post-infection. These symptoms were accompanied by CNS inflammation, neurotoxicity, and blood-brain barrier destruction. Microglial cells surrounding the blood vessels and injured hippocampus regions were activated by DENV infection. Pharmacologically depleting microglia unexpectedly increased viral replication, neuropathy, and mortality in DENV-infected mice...
2016: Scientific Reports
Kade P Pettie, Jacqueline M Dresch, Robert A Drewell
In the development of the Drosophila embryo, gene expression is directed by the sequence-specific interactions of a large network of protein transcription factors (TFs) and DNA cis-regulatory binding sites. Once the identity of the typically 8-10bp binding sites for any given TF has been determined by one of several experimental procedures, the sequences can be represented in a position weight matrix (PWM) and used to predict the location of additional TF binding sites elsewhere in the genome. Often, alignments of large (>200bp) genomic fragments that have been experimentally determined to bind the TF of interest in Chromatin Immunoprecipitation (ChIP) studies are trimmed under the assumption that the majority of the binding sites are located near the center of all the aligned fragments...
August 2016: Mechanisms of Development
Junbo Liu, Yanyu Xiao, Tongli Zhang, Jun Ma
In a recent study, we investigated the regulation of hunchback (hb) transcription dynamics in Drosophila embryos. Our results suggest that shutdown of hb transcription at early nuclear cycle (nc) 14 is an event associated with the global changes taking place during the mid-blastula transition (MBT). Here we have developed a simple model of hb transcription dynamics during this transition time. With kinetic parameters estimated from our published experimental data, the model describes the dynamical processes of hb gene transcription and hb mRNA accumulation...
July 2, 2016: Fly
Susanta K Behura, Joseph Sarro, Ping Li, Keshava Mysore, David W Severson, Scott J Emrich, Molly Duman-Scheel
BACKGROUND: Despite substantial progress in mosquito genomic and genetic research, few cis-regulatory elements (CREs), DNA sequences that control gene expression, have been identified in mosquitoes or other non-model insects. Formaldehyde-assisted isolation of regulatory elements paired with DNA sequencing, FAIRE-seq, is emerging as a powerful new high-throughput tool for global CRE discovery. FAIRE results in the preferential recovery of open chromatin DNA fragments that are not bound by nucleosomes, an evolutionarily conserved indicator of regulatory activity, which are then sequenced...
May 10, 2016: BMC Genomics
Alexander V Spirov, Ekaterina M Myasnikova, David M Holloway
Gene network simulations are increasingly used to quantify mutual gene regulation in biological tissues. These are generally based on linear interactions between single-entity regulatory and target genes. Biological genes, by contrast, commonly have multiple, partially independent, cis-regulatory modules (CRMs) for regulator binding, and can produce variant transcription and translation products. We present a modeling framework to address some of the gene regulatory dynamics implied by this biological complexity...
April 2016: Journal of Bioinformatics and Computational Biology
Antoine Desseaux, Michel Pionnier, Bernard Guillemin, Alain Charles Masquelet, Didier Maynart, Frédéric Dubrana
François Humbert (1776-1850) created in 1817 the first French orthopaedic institution, at a great turning point in orthopedics. Interested in "lame people" and "hunchbacks", he treated congenital hip dislocation and scoliosis, for about 30 years. Humbert's medical practice illustrated very well the deep transformation which occured in orthopedics at the beginning of the 19th century. As testimonies of Humbert's work, there are the books he published, his Memoirs, some buildings of his institution which have been reconverted into houses, but above all thirty-eight models of his "machines"...
July 2015: Histoire des Sciences Médicales
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