The B Chromosome System of Omocestus Bolivari
Total Page:16
File Type:pdf, Size:1020Kb
Load more
Recommended publications
-
Zum Erstfund Des Rotleibigen Grashüpfers Omocestus
6. Literatur BLAB et al . , Hr sg. (19B4): Rote Liste der gefährdeten Tiere und Pflanzen in der Bundesrepublik Deutschland , Greven: Kilda. MINISTER FÜR UMWELT, Hr sg. (1988): Rot e Liste der bedrohten Tier- und Pfla nzenarten im Saarland, Saarbrücken. NIET HA MMER , J., KRAPP F., HRSG. (1982): Handbu ch der Säugetiere Europas. SC HR ÖPFER, FELDMANN , VIER HAU S (1984): Die Säugetiere Westfalens , Abh andlg. au s dem Westfälischen Museum für Naturkunde, Münster Anschrift der Verfasser: Dipl. Geogr. Dieter DDRDA Dip l. Geogr. Dr. Stephan MAAS Dipl. Biol. Alo ysius ST AUDT ARBEIT SGEMEIN SC HAFT FÜR ÖKOLOGIE An der Saar 18 - 18 6630 Saarlouis ZUM ERSTFUND DES ROTLEIBIGEN GRASHÜPFERS DMOCESTUS HAEMORRHOIDALIS, CHARP., (Insecta: Sal tatoria) IM SAARLAND Von Dieter DORDA Omocestus gehört zur Unterfamilie Gomphocerinae (Grashüpfer) der Familie Acrididae (Feldheuschrecken). Feldheuschrecken, Knarrschrecken (Catantopidae) und Dornschrecken (Tetrigidae) werden zur Unt erordnung Caelifera (Kurzfühlerschrek- ke n ) gerechnet. Einige Gattungen der Grashüpfer wie Stenobothrus, Chorthippus und Omocestus sind im Gelände nur schwer vo neina nd er zu unterschei - den. Vielfach ist ein Geschlechtsdimorphismus ausgebildet, der die Verwechslung mit einer anderen Art möglich macht. So ist das Weibchen vo n Omocestus haemorrhoidalis mit Myrmeleotettix maculatus, der Gefleckten Keulenschrecke , das Männchen mit dem vo n Stenobothrus stigmaticus, dem Kleinen Heidegrashüpfer , zu verwechseln. Omocestus haemorrhoidalis ist eher unauffällig. Möglicherweise wurde sie im Saarland bislang übersehen, denn nur am Gesang läßt sich die Ar t im Gelände zuverlässig von a nd eren in Frage kommen - den Heuschrecken unterscheiden. 90 Der Gesang von Omocestus haemorrhoidalis ist sehr leise und hört sich mechanisch, hämmernd monoton an und erinnert entfernt an den Gesang des Feldschwirls . -
Post-Zygotic Mosaic Mutation in Normal Tissue from Breast Cancer Patient
Extended Abstract Research in Genes and Proteins Vol. 1, Iss. 1 2019 Post-zygotic Mosaic Mutation in Normal Tissue from Breast Cancer Patient Ryong Nam Kim Seoul National University Bio-MAX/NBIO, Seoul, Korea, Email: [email protected] ABSTRACT Even though numerous previous investigations had shed errors during replication, defects in chromosome fresh light on somatic driver mutations in cancer tissues, segregation during mitosis, and direct chemical attacks by the mutation-driven malignant transformation mechanism reactive oxygen species. the method of cellular genetic from normal to cancerous tissues remains still mysterious. diversification begins during embryonic development and during this study, we performed whole exome analysis of continues throughout life, resulting in the phenomenon of paired normal and cancer samples from 12 carcinoma somatic mosaicism. New information about the genetic patients so as to elucidate the post-zygotic mosaic diversity of cells composing the body makes us reconsider mutation which may predispose to breast carcinogenesis. the prevailing concepts of cancer etiology and We found a post-zygotic mosaic mutation PIK3CA pathogenesis. p.F1002C with 2% variant allele fraction (VAF) in normal tissue, whose respective VAF during a matched carcinoma Here, I suggest that a progressively deteriorating tissue, had increased by 20.6%. Such an expansion of the microenvironment (“soil”) generates the cancerous “seed” variant allele fraction within the matched cancer tissue and favors its development. Cancer Res; 78(6); 1375–8. ©2018 AACR. Just like nothing ha s contributed to the may implicate the mosaic mutation in association with the causation underlying the breast carcinogenesis. flourishing of physics quite war, nothing has stimulated the event of biology quite cancer. -
Genetic Mosaicism: What Gregor Mendel Didn't Know
Genetic mosaicism: what Gregor Mendel didn't know. R Hirschhorn J Clin Invest. 1995;95(2):443-444. https://doi.org/10.1172/JCI117682. Research Article Find the latest version: https://jci.me/117682/pdf Genetic Mosaicism: What Gregor Mendel Didn't Know Editorial The word "mosaic" was originally used as an adjective to depending on the developmental stage at which the mutation describe any form of work or art produced by the joining to- occurs, may or may not be associated with somatic mosaicism gether of many tiny pieces that differ in size and color (1). In and may include all or only some of the germ cells. (A totally that sense, virtually all multicellular organisms are mosaics of different mechanism for somatic mosaicism has been recently cells of different form and function. Normal developmentally described, reversion of a transmitted mutation to normal [4]. determined mosaicism can involve permanent alterations of We have additionally identified such an event [our unpublished DNA in somatic cells such as the specialized cells of the im- observations]. ) mune system. In such specialized somatic cells, different re- Somatic and germ line mosaicism were initially inferred on arrangements of germ line DNA for immunoglobulin and T cell clinical grounds for a variety of diseases, including autosomal receptor genes and the different mutations accompanying these dominant and X-linked disorders, as presciently reviewed by rearrangements alter DNA and function. However, these alter- Hall (3). Somatic mosaicism for inherited disease was initially ations in individual cells cannot be transmitted to offspring definitively established for chromosomal disorders, such as since they occur only in differentiated somatic cells. -
Phenotype Manifestations of Polysomy X at Males
PHENOTYPE MANIFESTATIONS OF POLYSOMY X AT MALES Amra Ćatović* &Centre for Human Genetics, Faculty of Medicine, University of Sarajevo, Čekaluša , Sarajevo, Bosnia and Herzegovina * Corresponding author Abstract Klinefelter Syndrome is the most frequent form of male hypogonadism. It is an endocrine disorder based on sex chromosome aneuploidy. Infertility and gynaecomastia are the two most common symptoms that lead to diagnosis. Diagnosis of Klinefelter syndrome is made by karyotyping. Over years period (-) patients have been sent to “Center for Human Genetics” of Faculty of Medicine in Sarajevo from diff erent medical centres within Federation of Bosnia and Herzegovina with diagnosis suspecta Klinefelter syndrome, azoo- spermia, sterilitas primaria and hypogonadism for cytogenetic evaluation. Normal karyotype was found in (,) subjects, and karyotype was changed in (,) subjects. Polysomy X was found in (,) examinees. Polysomy X was expressed at the age of sexual maturity in the majority of the cases. Our results suggest that indication for chromosomal evaluation needs to be established at a very young age. KEY WORDS: polysomy X, hypogonadism, infertility Introduction Structural changes in gonosomes (X and Y) cause different distribution of genes, which may be exhibited in various phenotypes. Numerical aberrations of gonosomes have specific pattern of phenotype characteristics, which can be classified as clini- cal syndrome. Incidence of gonosome aberrations in males is / male newborn (). Klinefelter syndrome is the most common chromosomal disorder associated with male hypogonadism. According to different authors incidence is / male newborns (), /- (), and even / (). Very high incidence indicates that the zygotes with Klinefelter syndrome are more vital than those with other chromosomal aberrations. BOSNIAN JOURNAL OF BASIC MEDICAL SCIENCES 2008; 8 (3): 287-290 AMRA ĆATOVIĆ: PHENOTYPE MANIFESTATIONS OF POLYSOMY X AT MALES In , Klinefelter et al. -
Generating High Variability of B Chromosomes in Eyprepocnemis Plorans (Grasshopper)
Heredity 71 (1993) 352—362 Received 5 January 1993 Genetical Society of Great Britain Generating high variability of B chromosomes in Eyprepocnemis plorans (grasshopper) M. D. LOPEZ-LEON, J. CABRERO, M. C. PARDO, E. VISERAS, J. P. M. CAMACHO* & J. L. SANTOSI Departamento de Genética, Facu/tad de Ciencias, Un/versidad de Granada, E- 18071 Granada, Spa/n and tDepartamento de Genét/ca, Facultad de B/o/ogIa, Un/vers/dad Comp/utense de Madrid, E-28040 Madrid, Spa/n Twenty-eightprogeny analyses (PAs) performed on specimens of E. plorans collected from four natural Iberian populations have been informative about the transmission of rare B chromosome types or the de novo origin of some of them. At least ii rare B-types have been found in addition to the predominant ones: B1 in Daimuz, B2 in Jete and Salobreña, and B5 in Fuengirola. The presence in two controlled crosses of one embryo carrying a B-type which was absent in the parents suggests that these B variants (B20 and B )haveoriginated de novo. Eleven other PAs suggest that new B derivatives are recurrently arising in these populations. The most frequent B chromosome mutation was centromere misdivision that originated four different B-types (B2m1,B110,B210 and Bmjnj). Other rearrangements were pericentric inversions (B211, B212 and B213), inverse tandem fusion (B211), centric fusion (B11) and deletions (B2d1andB2d2).Thefour B derivatives produced by centromeric misdivision are significantly eliminated during sexual transmission, most probably owing to deficiencies in the control of chromosome movement by their hemicentromeres. Those derived from translocations showed Mendelian transmission but deletion B variants showed a tendency to elimination. -
Practice Guidelines for Molecular Diagnosis of Fragile X Syndrome
Practice Guidelines for Molecular Diagnosis of Fragile X Syndrome Prepared and edited by James Macpherson 1 and Abid Sharif 2 following a CMGS Workshop held on 10 th July 2012. 1. Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, Wiltshire, SP2 8BJ, U.K. 2. East Midlands Regional Molecular Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, NG5 1PB, U.K. Guidelines updated by the Association for Clinical Genetic Science (formally Clinical Molecular Genetics Society and Association of Clinical Cytogenetics) approved November 2014. 1. NOMENCLATURE and GENE IDs OMIM Condition Gene name Gene map locus 309550 Fragile X Syndrome FMR1 Xq27.3 309548 FRAXE FMR2 Xq28 2. DESCRIPTION OF DISEASE 2.1 Fragile X Syndrome Fragile X Syndrome is thought to be the commonest single-gene cause of learning disability features in humans with an estimated prevalence of 1 in 4000- 1 in 6000 males, where it causes moderate to severe intellectual and social impairment together with syndromic features including large ears and head, long face and macroorchidism 1. A fragile site (FRAXA) is expressible at the gene locus at Xq27.3, typically in 2-40 % of blood cells in affected males. The pathogenic mutation in most cases is a large expansion (‘full mutation’) in a CGG repeat tract in the first untranslated exon of the gene FMR1, which normally encodes the RNA-binding protein FMRP. Full mutations (from approximately 200 repeats upwards) result in hypermethylation of the DNA in and around the CGG tract, curtailed gene expression and no FMRP being produced 2-4. Smaller expansions of the CGG repeat, or ‘premutations’ are not hypermethylated and hence do not cause Fragile X syndrome, but may show expansion into full mutations over one or more generations. -
Continuous Variation in Y-Chromosome Structure of Rumex Acetosa
Heredity 57 (1986) 247-254 The Genetical Society of Great Britain Received 16 December 1985 Continuous variation in Y-chromosome structure of Rumex acetosa A. S. Wilby and School of Biological Sciences, J. S. Parker Queen Mary College, Mile End Road, London El 4NS. The dioecious angiosperm Rumex acetosa has an XXIXY1Y2sex-chromosomesystem. Each V-chromosome is heterochromatic except for a minute terminal euchromatic pairing segment. The Vs are constant in size but have a variable centromere position. The centromeres can be located anywhere within the central 40 per cent of the chromosome but are excluded from the two distal 30 per cent regions. In a sample of 270 males from 18 different populations 68 distinct variants have been identified on the basis of V-morphology. All populations are highly polymorphic with a minimum of four variants in a sample of ten males. The origin and significance of this massive variability is considered in this paper. Increased mutation rate of the Ys may be implicated in maintenance of this variation. I NTRO DUCTI ON these "inert" Ys has been described (Vana, 1972) variation in their structure has been overlooked. Sex-determinationin animals is usually genic and Extensive heterochroinatic content is a charac- frequently associated with visibly-differentiated teristic of many Y- and W-chromosomes. Indeed, sex-chromosomes. Sex expression in plants, some have argued that the process of hetero- however, is usually more plastic, and is subject to chromatinisation itself was implicated in the initial environmental influences such as temperature and phase of sex-chromosome differentiation (Jones, photoperiod (Heslop-Harrison, 1957). -
An Unusual Case of Mosaic Down's Syndrome Involving Two Different
J Med Genet: first published as 10.1136/jmg.26.3.198 on 1 March 1989. Downloaded from 198 Case reports An unusual case of mosaic Down's syndrome involving two different Robertsonian translocations M J CLARKE*, D A G THOMSON*, M J GRIFFITHS*, J G BISSENDENt, A AUKETTt, AND J L WATT* From *the Regional Cytogenetics Unit, Birmingham Maternity Hospital, Edgbaston, Birmingham B15 2TG; and tDudley Road Hospital, Dudley Road, Birmingham B18 7QH. SUMMARY A baby girl with some of the Case report stigmata of Down's syndrome was found to be a mosaic with three different cell lines: The patient was born at term in February 1987 45,XX,-13,-21,+t(13q21q)/(46,XX/46,XX, weighing 2800 g after a normal pregnancy and The rearrange- delivery. The mother was 27 years old and the father -21, +t(2lq21q). chromosome 29. This was their first child and neither parent has ments detected in this patient appear to have any family history of Down's syndrome. arisen de novo. In the normal cell line the Some features of Down's syndrome were noted in terminal end of the p arm of one chromosome the infant soon after birth and she was referred for 21 is thought to have been damaged. It seems cytogenetic analysis. Physical examination showed a probable that this is related to the other typical mongoloid slant to the eyes, low set ears, a chromosomal anomalies found. single palmar crease, broad hands with stubby fingers, a large space between her big toe and the rest of her toes, and a slightly protuberant tongue. -
A Rare 47 XXY/46 XX Mosaicism with Clinical Features of Klinefelter Syndrome Noor Shafina Mohd Nor1 and Muhammad Yazid Jalaludin2,3*
Mohd Nor and Jalaludin International Journal of Pediatric Endocrinology (2016) 2016:11 DOI 10.1186/s13633-016-0029-3 CASE REPORT Open Access A rare 47 XXY/46 XX mosaicism with clinical features of Klinefelter syndrome Noor Shafina Mohd Nor1 and Muhammad Yazid Jalaludin2,3* Abstract Background: 47 XXY/46 XX mosaicism with characteristics suggesting Klinefelter syndrome is very rare and at present, only seven cases have been reported in the literature. Case presentation: We report an Indian boy diagnosed as variant of Klinefelter syndrome with 47 XXY/46 XX mosaicism at age 12 years. He was noted to have right cryptorchidism and chordae at birth, but did not have surgery for these until age 3 years. During surgery, the right gonad was atrophic and removed. Histology revealed atrophic ovarian tissue. Pelvic ultrasound showed no Mullerian structures. There was however no clinical follow up and he was raised as a boy. At 12 years old he was re-evaluated because of parental concern about his ‘female’ body habitus. He was slightly overweight, had eunuchoid body habitus with mild gynaecomastia. The right scrotal sac was empty and a 2mls testis was present in the left scrotum. Penile length was 5.2 cm and width 2.0 cm. There was absent pubic or axillary hair. Pronation and supination of his upper limbs were reduced and x-ray of both elbow joints revealed bilateral radioulnar synostosis. The baseline laboratory data were LH < 0.1 mIU/ml, FSH 1.4 mIU/ml, testosterone 0.6 nmol/L with raised estradiol, 96 pmol/L. HCG stimulation test showed poor Leydig cell response. -
Cholinergic Activation of Stridulatory Behaviour in the Grasshopper Omocestus Viridulus (L.)
The Journal of Experimental Biology 200, 1327–1337 (1997) 1327 Printed in Great Britain © The Company of Biologists Limited 1997 JEB0800 CHOLINERGIC ACTIVATION OF STRIDULATORY BEHAVIOUR IN THE GRASSHOPPER OMOCESTUS VIRIDULUS (L.) RALF HEINRICH, BERTHOLD HEDWIG AND NORBERT ELSNER* I. Zoologisches Institut, Berliner Straße 28, D-37073 Göttingen, Germany Accepted 14 February 1997 Summary When acetylcholine (ACh) and its agonists are injected stridulation induced by activation of the muscarinic ACh into neuropile regions of the protocerebrum and the receptors begins after a longer latency, increases slowly in suboesophageal ganglion of male and female grasshoppers intensity and is maintained for many minutes. The sites of the species Omocestus viridulus (L.), they elicit within the cephalic ganglia where song can be initiated stridulation in a pattern no different from that of natural pharmacologically coincide with regions in which song. Stridulation can even be evoked in mated females descending stridulatory command neurones arborize. which normally do not sing. By choosing suitable ACh agonists, nicotinic and muscarinic ACh receptors can be activated selectively. Activation of nicotinic ACh receptors Key words: grasshopper, Omocestus viridulus, stridulation, brain, produces individual song sequences with rapid onset; the neuropharmacology, acetylcholine. Introduction An understanding of the processes within the central nervous which the animals performed song sequences. However, these system (CNS) that control stridulatory behaviour in -
Rotleibiger Grashüpfer (Omocestus Haemorrhoidalis) (Stand November 2011)
Niedersächsische Strategie zum Arten- und Biotopschutz Vollzugshinweise zum Schutz von Wirbellosenarten in Niedersachsen Wirbellosenarten mit Priorität für Erhaltungs- und Entwicklungsmaßnahmen Rotleibiger Grashüpfer (Omocestus haemorrhoidalis) (Stand November 2011) Inhalt 1 Lebensweise und Lebensraum 3 Erhaltungsziele 1.1 Merkmale, Lebensweise 4 Maßnahmen 1.2 Lebensraumansprüche 4.1 Schutz- und Entwicklungsmaßnahmen 2 Bestandssituation und Verbreitung 4.2 Gebiete für die Umsetzung mit 2.1 Verbreitung in Niedersachsen Prioritätensetzung 2.2 Bestandssituation in Deutschland und 4.3 Bestandsüberwachung Niedersachsen 5 Schutzinstrumente 2.3 Schutzstatus 6 Literatur 2.4 Erhaltungszustand 2.5 Beeinträchtigungen und Gefährdungen Abb. 1: Rotleibiger Grashüpfer (Foto: H.-J. Clausnitzer) Niedersächsischer Landesbetrieb für Wasserwirtschaft, Küsten- und Naturschutz – NLWKN 1 Niedersächsische Strategie zum Arten- und Biotopschutz – Vollzugshinweise Wirbellosenarten – Rotleibiger Grashüpfer Omocestus haemorrhoidalis (prioritär) November 2011 1 Lebensweise und Lebensraum 1.1 Merkmale, Lebensweise Der Rotleibige Grashüpfer (Omocestus haemorrhoidalis) ist eine Art aus der Familie der Acrididae (Feldheuschrecken). Grundfarbe braun, aber auch Tiere mit grünem Rücken nicht selten Abdomenspitze rotgelb, aber nicht feuerrot (Unterschied zum Buntleibigen Grashüpfer [Omocestus rufipes]; eigener Vollzugshinweis) Größe: Männchen 10-14 mm, Weibchen 16-19 mm Nahrung vermutlich ein breites Spektrum von Süßgräsern Eier werden in die oberste Bodenschicht oder -
Mosaic Analysis in Drosophila
| FLYBOOK METHODS Mosaic Analysis in Drosophila Federico Germani,* Cora Bergantinos,† and Laura A. Johnston†,1 *Institute of Molecular Life Sciences, University of Zurich, 8057, Switzerland and yDepartment of Genetics and Development, Columbia University, New York, New York 10032 ORCID IDs: 0000-0002-5604-0437 (F.G.); 0000-0001-5246-5473 (C.B.); 0000-0001-9477-7897 (L.A.J.) ABSTRACT Since the founding of Drosophila genetics by Thomas Hunt Morgan and his colleagues over 100 years ago, the exper- imental induction of mosaicism has featured prominently in its recognition as an unsurpassed genetic model organism. The use of genetic mosaics has facilitated the discovery of a wide variety of developmental processes, identified specific cell lineages, allowed the study of recessive embryonic lethal mutations, and demonstrated the existence of cell competition. Here, we discuss how genetic mosaicism in Drosophila became an invaluable research tool that revolutionized developmental biology. We describe the prevailing methods used to produce mosaic animals, and highlight advantages and disadvantages of each genetic system. We cover methods ranging from simple “twin-spot” analysis to more sophisticated systems of multicolor labeling. KEYWORDS Drosophila; mosaicism; Flp/FRT; FlyBook TABLE OF CONTENTS Abstract 473 Introduction 474 Natural Origins of Mosaicism 474 Experimental Induction of Mosaics: A Brief History 474 Recombination and Clonal Analysis in Research 476 Site-specific recombination 477 Control of FLP expression 478 Trans-Recombination 478 Twin-spot clones 479 Twin-spot generator 479 Mitotic clones in the female germ line 479 The Minute technique 480 The mosaic analysis with a repressible cell marker (MARCM) system 480 Notes on the use of Gal80 in mosaics 480 Cis-Recombination 481 The FLP-out technique 481 Continued Copyright © 2018 by the Genetics Society of America doi: https://doi.org/10.1534/genetics.117.300256 Manuscript received April 18, 2017; accepted for publication August 27, 2017.