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Genesis: the Journal of Genetics and Development

Chan Jin Park, Guanglin Chen, Yongbum Koo, Po-Ching P Lin, Joseph A Cacioppo, Hailey Prohaska, CheMyong J Ko
Two estrogen receptors, ESR1 and ESR2, are responsible for the classical actions of estrogens in mammalian species. They display different spatiotemporal expression patterns and non-overlapping functions in various tissues and physiological conditions. In this study, a novel knock-in mouse line that expresses codon-improved Cre recombinase (iCre) under regulation of the natural Esr1 promoter (Esr1-iCre) was developed. Functional characterization of iCre expression by crossing them with reporter lines (ROSA26-lacZ or Ai9-RFP) showed that iCre is faithfully expressed in Esr1-lineage cells...
November 8, 2017: Genesis: the Journal of Genetics and Development
Francisca Leal, Martin J Cohn
The evolution of snakes involved dramatic modifications to the ancestral lizard body plan. Limb loss and elongation of the trunk are hallmarks of snakes, although convergent evolution of limb-reduced and trunk-elongated forms occurred multiple times in snake-like lizards. Advanced snakes are completely limbless, but intermediate and basal snakes have retained rudiments of hindlimbs and pelvic girdles. Moreover, the snake fossil record indicates that complete legs were re-acquired at least once, suggesting that the potential for limb development was retained in some limb-reduced taxa...
November 2, 2017: Genesis: the Journal of Genetics and Development
Karen Sears, Jennifer A Maier, Alexa Sadier, Daniel Sorensen, Daniel J Urban
Mammals have highly diverse limbs that have contributed to their occupation of almost every niche. Researchers have long been investigating the development of these diverse limbs, with the goals of identifying developmental processes and potential biases that shape mammalian limb diversity. To date, researchers have used techniques ranging from the genomic to the anatomic to investigate the developmental processes shaping the limb morphology of mammals from five orders (Marsupialia, Chiroptera, Rodentia, Cetartiodactyla, and Perissodactyla)...
November 2, 2017: Genesis: the Journal of Genetics and Development
Hitoshi Kumagai, Tomoaki Matsuura, Yasuhiko Kato, Hajime Watanabe
The viral 2A peptides have recently been used for bicistronic expression in various organisms. In this system, a single mRNA that codes for two proteins flanking the 2A peptide can be translated simultaneously into each protein by ribosomal skipping at this peptide sequence. Here, we tested the function of the Thosea asigna insect virus 2A (T2A) peptide in the branchiopod crustacean Daphnia magna-an emerging model of evolutionary developmental biology. First, we used transgenic Daphnia that expresses a potential bicistronic RNA containing mCherry and histone H2B-GFP ORFs upstream and downstream of the T2A sequence, respectively...
October 31, 2017: Genesis: the Journal of Genetics and Development
Chang-Soo Hong, Jean-Pierre Saint-Jeannet
The transcription factors Pax3 and Zic1 are critical to specify the neural plate border and to promote neural crest formation. In a microarray screen designed to identify genes regulated by Pax3 and Zic1 in Xenopus we isolated Znf703/Nlz1 a transcriptional repressor member of the NET protein family. At early neurula stage znf703 is expressed in the dorsal ectoderm, spanning the neural plate and neural plate border, with an anterior boundary of expression corresponding to rhombomeres 3 and 4 (r3/r4) in the prospective hindbrain...
October 31, 2017: Genesis: the Journal of Genetics and Development
Carlos R Infante, Ashley M Rasys, Douglas B Menke
Among squamate reptiles, dozens of lineages have independently evolved complete or partial limb reduction. This remarkable convergence of limbless and limb-reduced phenotypes provides multiple natural replicates of different ages to explore the evolution and development of the vertebrate limb and the gene regulatory network that controls its formation. The most successful and best known of the limb-reduced squamates are snakes, which evolved a limb-reduced body form more than 100 million years ago. Recent studies have revealed the unexpected finding that many ancient limb enhancers are conserved in the genomes of snakes...
October 27, 2017: Genesis: the Journal of Genetics and Development
Lisa Noelle Cooper, Karen E Sears, Brooke A Armfield, Bhavneet Kala, Merla Hubler, J G M Thewissen
Cetaceans are the only mammals to have evolved hyperphalangy, an increase in the number of phalanges beyond the mammalian plesiomorphic condition of three phalanges per digit. In this study, cetaceans were used as a novel model to review previous studies of mammalian hyperphalangy and contribute new experimental evidence as to the molecular origins of this phenotype in embryos of the pantropical spotted dolphin (Stenella attenuata). Results show embryos of dolphins, mice, and pigs share similar spatiotemporal patterns of signaling proteins known to shape limbs of mammals (e...
October 25, 2017: Genesis: the Journal of Genetics and Development
Shanshan Gao, Xing Liu, Juanjuan Liu, Wenfeng Xiong, Xiaowen Song, Wei Wu, Luting Wei, Bin Li
Latrophilins (LPHs) are adhesion G-protein-coupled receptors comprising three paralogous forms (LPH-1, LPH-2, and LPH-3) and known receptors for α-latrotoxin, which are involved in growth, development, adaptability, and schizophrenia and other diseases in vertebrates. However, the functions of LPH are poorly understood in most insects. Here, phylogenetic and synteny analysis indicated that LPH-1 and LPH-3 evolved separately from a common ancestor LPH-2. Then, latrophilin (Tclph) was cloned in Tribolium castaneum, and three alternatively spliced transcripts (Tclpha, Tclphb and Tclphc) were identified...
October 20, 2017: Genesis: the Journal of Genetics and Development
Aglaia Ntokou, Marten Szibor, José Alberto Rodríguez-Castillo, Jennifer Quantius, Susanne Herold, Elie El Agha, Saverio Bellusci, Isabelle Salwig, Thomas Braun, Robert Voswinckel, Werner Seeger, Rory E Morty, Katrin Ahlbrecht
Pulmonary diseases such as chronic obstructive pulmonary disease, lung fibrosis, and bronchopulmonary dysplasia are characterized by the destruction or malformation of the alveolar regions of the lung. The underlying pathomechanisms at play are an area of intense interest since these mechanisms may reveal pathways suitable for interventions to drive reparative processes. Lipid-laden fibroblasts (lipofibroblasts) express the Perilipin 2 (Plin2) gene-product, PLIN2, commonly called adipose-differentiation related protein (ADRP)...
October 16, 2017: Genesis: the Journal of Genetics and Development
Henrique Oliveira Frank, Danilo Garcia Sanchez, Lucas de Freitas Oliveira, Jörg Kobarg, Nadia Monesi
The DNA puff BhC4-1 gene of Bradysia hygida (Diptera, Sciaridae) is amplified and expressed in the salivary glands at the end of the last larval instar. Even though there are no BhC4-1 orthologs in Drosophila melanogaster, the mechanisms that regulate BhC4-1 gene expression in B. hygida are for the most part conserved in D. melanogaster. The BhC4-1 promoter contains a 129bp (-186/-58) cis-regulatory module (CRM) that drives developmentally regulated expression in transgenic salivary glands at the onset of metamorphosis...
October 3, 2017: Genesis: the Journal of Genetics and Development
Agnès Boutet, Glenda Comai, Aurélie Charlet, Fariba J- Motamedi, Haroun Dhib, Roberto Bandiera, Andreas Schedl
WTX/AMER1 is an important developmental regulator, mutations in which have been identified in a proportion of patients suffering from the renal neoplasm Wilms' tumor and in the bone malformation syndrome Osteopathia Striata with Cranial Sclerosis (OSCS). Its cellular functions appear complex and the protein can be found at the membrane, within the cytoplasm and the nucleus. To understand its developmental and cellular function an allelic series for Wtx in the mouse is crucial. Whereas mice carrying a conditional knock out allele for Wtx have been previously reported, a gain-of-function mouse model that would allow studying the molecular, cellular and developmental role of Wtx is still missing...
September 27, 2017: Genesis: the Journal of Genetics and Development
Felizitas Schmitz, Ingo Burtscher, Michael Stauber, Achim Gossler, Heiko Lickert
Cilia play a major role in the regulation of numerous signaling pathways and are essential for embryonic development. Mutations in genes affecting ciliary function can cause a variety of diseases in humans summarized as ciliopathies. To facilitate the detection and visualization of cilia in a temporal and spatial manner in mouse tissues, we generated a Cre-inducible cilium specific reporter mouse line expressing an ARL13B-tRFP fusion protein driven by a CMV enhancer/chicken β actin promotor (pCAG) from the Hprt locus...
September 25, 2017: Genesis: the Journal of Genetics and Development
Emmanuel Villanueva-Chimal, Laura S Salinas, Laura P Fernández-Cardenas, Gabriela Huelgas-Morales, Alejandro Cabrera-Wrooman, Rosa E Navarro
The d4 family of transcription factors consists of three members in mammals. DPF1/neuro-d4 is expressed mainly in neurons and the peripheral nervous system, and is important for brain development. DPF2/requiem/ubi-d4 is expressed ubiquitously and presumably functions as an apoptotic factor, especially during the deprivation of trophic factors. DPF3/cer-d4 is expressed in neurons and in the heart, and is important for heart development and function in zebrafish. In Drosophila, there is only one member, dd4, whose function is still unknown, but it is expressed in many tissues and is particularly abundant in the brain of developing embryos and in adults...
September 23, 2017: Genesis: the Journal of Genetics and Development
Jordan J Toutounchian, Joseph H McCarty
Perivascular astrocyte end feet closely juxtapose cerebral blood vessels to regulate important developmental and physiological processes including endothelial cell proliferation and sprouting as well as the formation of the blood-brain barrier (BBB). The mechanisms underlying these events remain largely unknown due to a lack of experimental models for identifying perivascular astrocytes and distinguishing these cell types from other astroglial populations. Megalencephalic leukoencephalopathy with subcortical cysts 1 (Mlc1) is a transmembrane protein that is expressed in perivascular astrocyte end feet where it controls BBB development and homeostasis...
September 20, 2017: Genesis: the Journal of Genetics and Development
Ana Paço, Renata Freitas
Genes in the 5' extremity of the HoxD cluster encode DNA-binding transcription factors essential for development of the autopod and digits, regulating primarily gene expression and, consequently, morphogenesis and skeletal differentiation. Comparative studies focused on their expression and regulation have led to the idea that evolution of a bimodal regulation of the HoxD cluster, mainly due to the activation of cis-regulatory units in the centromeric side of the cluster, was a fundamental mechanism that potentiated the fin-to-limb transition in vertebrates...
September 14, 2017: Genesis: the Journal of Genetics and Development
Jolanda J D de Roo, Cor Breukel, Amiet R Chhatta, Margot M Linssen, Sandra A Vloemans, Daniela Salvatori, Harald M M Mikkers, Sjef J Verbeek, Frank J T Staal
The canonical Wnt signalling pathway has been implicated in organogenesis and self-renewal of essentially all stem cell systems. In vivo reporter systems are crucial to assess the role of Wnt signalling in the biology and pathology of stem cell systems. We set out to develop a Turquoise (TQ) fluorescent protein based Wnt reporter. We used a CRISPR-Cas9 approach to insert a TQ fluorescent protein encoding gene into the general Wnt target gene Axin2, thereby establishing a Wnt reporter mouse similar to previously generated Wnt reporter mice but with the mTurquoise2 gene instead of E...
September 5, 2017: Genesis: the Journal of Genetics and Development
Yacine Kherdjemil, Marie Kmita
Tetrapods are characterized by the presence of digits at the distal end of their limbs, which have emerged during the transition from fins to limbs. While variations in digit number are observed in extant tetrapods, most have five digits per limb and divergence from this pentadactyl ground state is always a reduction in digit number. Paleontological data revealed that stem-group tetrapods were polydactylous indicating that the evolution from fish fin to modern tetrapod limbs involved two major transitions; the emergence of digits and the shift from polydactyly to pentadactyly...
August 24, 2017: Genesis: the Journal of Genetics and Development
Harunur Rashid, Haiyan Chen, Quamarul Hassan, Amjad Javed
Aggrecan (Acan), a large proteoglycan is abundantly expressed in cartilage tissue. Disruption of Acan gene causes dwarfism and perinatal lethality of homozygous mice. Because of sustained expression of Acan in the growth plate and articular cartilage, Agc(Cre) model has been developed for the regulated ablation of target gene in chondrocytes. In this model, the IRES-CreERT-Neo-pgk transgene is knocked-in the 3'UTR of the Acan gene. We consistently noticed variable weight and size among the Agc(Cre) littermates, prompting us to examine the cause of this phenotype...
October 2017: Genesis: the Journal of Genetics and Development
Nicholas W Plummer, Erica K Ungewitter, Kathleen G Smith, Humphrey H-C Yao, Patricia Jensen
Recombinase responsive mouse lines expressing diphtheria toxin subunit A (DTA) are well established tools for targeted ablation of genetically defined cell populations. Here we describe a new knock-in allele at the Gt(Rosa)26Sor locus that retains the best features of previously described DTA alleles-including a CAG promoter, attenuated mutant DTA cDNA, and ubiquitous EGFP labeling-with the addition of a Cre-dependent FLEx switch for tight control of expression. The FLEx switch consists of two pairs of antiparallel lox sites requiring Cre-mediated recombination for inversion of the DTA to the proper orientation for transcription...
October 2017: Genesis: the Journal of Genetics and Development
Mingmei Liao, Junmei Zhou, Fen Wang, Yasmin H Ali, Kelvin L Chan, Fei Zou, Stefan Offermanns, Zhisheng Jiang, Zhihua Jiang
The Myh11-CreER(T2) mouse line (Cre(+) ) has gained increasing application because of its high lineage specificity relative to other Cre drivers targeting smooth muscle cells (SMCs). This Cre allele, however, was initially inserted into the Y chromosome (X/Y(Cre+) ), which excluded its application in female mice. Our group established a Cre(+) colony from male ancestors. Surprisingly, genotype screening identified female carriers that stably transmitted the Cre allele to the following generations. Crossbreeding experiments revealed a pattern of X-linked inheritance for the transgene (k > 1000), indicating that these female carries acquired the Cre allele through a mechanism of Y to X chromosome translocation...
September 2017: Genesis: the Journal of Genetics and Development
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