DETERMINING the LOCATION of GENES in DROSOPHILA MEANOGASTER by OBSERVING PHENOTYPIC RATIOS of OFFSPRING July 7, 2014
Total Page:16
File Type:pdf, Size:1020Kb
Load more
Recommended publications
-
X-Linked Recessive Inheritance
X-LINKED RECESSIVE Fact sheet 09 INHERITANCE This fact sheet talks about how genes affect our health when they follow a well understood pattern of genetic inheritance known as X-linked recessive inheritance. The exception to this rule applies to the genes carried on the sex chromosomes called X and Y. IN SUMMARY The genes in our DNA provide the instructions • Genes contain the instructions for for proteins, which are the building blocks of the growth and development. Some gene cells that make up our body. Although we all have variations or changes may mean that variation in our genes, sometimes this can affect the gene does not work properly or works in a different way that is harmful. how our bodies grow and develop. • A variation in a gene that causes a Generally, DNA variations that have no impact health or developmental condition on our health are called benign variants or is called a pathogenic variant or polymorphisms. These variants tend to be more mutation. common in people. Less commonly, variations can change the gene so that it sends a different • If a genetic condition happens when message. These changes may mean that the gene a gene on the X chromosome has does not work properly or works in a different way a variation, this is called X-linked that is harmful. A variation in a gene that causes inheritance. a health or developmental condition is called a • An X-linked recessive gene is a gene pathogenic variant or mutation. located on the X chromosome and affects males and females differently. -
Epigenetic Control of Mammalian Centromere Protein Binding: Does DNA Methylation Have a Role?
Journal of Cell Science 109, 2199-2206 (1996) 2199 Printed in Great Britain © The Company of Biologists Limited 1996 JCS3386 Epigenetic control of mammalian centromere protein binding: does DNA methylation have a role? Arthur R. Mitchell*, Peter Jeppesen, Linda Nicol†, Harris Morrison and David Kipling MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK *Author for correspondence (internet [email protected]) †Present address: MRC Reproductive Biology Unit, Edinburgh, UK SUMMARY Chromosome 1 of the inbred mouse strain DBA/2 has a block of minor satellite DNA sequences on chromosome 1. polymorphism associated with the minor satellite DNA at The binding of the CENP-E protein does not appear to be its centromere. The more terminal block of satellite DNA affected by demethylation of the minor satellite sequences. sequences on this chromosome acts as the centromere as We present a model to explain these observations. This shown by the binding of CREST ACA serum, anti-CENP- model may also indicate the mechanism by which the B and anti-CENP-E polyclonal sera. Demethylation of the CENP-B protein recognises specific sites within the arrays minor satellite DNA sequences accomplished by growing of minor satellite DNA on mouse chromosomes. cells in the presence of the drug 5-aza-2′-deoxycytidine results in a redistribution of the CENP-B protein. This protein now binds to an enlarged area on the more terminal Key words: Centromere satellite DNA, Demethylation, Centromere block and in addition it now binds to the more internal antibody INTRODUCTION A common feature of many mammalian pericentromeric domains is that they contain families of repetitive DNA The centromere of mammalian chromosomes is recognised at sequences (Singer, 1982). -
X-Chromosome Meiotic Drive in Drosophila Simulans: a QTL Approach Reveals the Complex Polygenic Determinism of Paris Drive Suppression
Heredity (2019) 122:906–915 https://doi.org/10.1038/s41437-018-0163-1 ARTICLE X-chromosome meiotic drive in Drosophila simulans: a QTL approach reveals the complex polygenic determinism of Paris drive suppression 1 1,2 1 2 2 Cécile Courret ● Pierre R. Gérard ● David Ogereau ● Matthieu Falque ● Laurence Moreau ● Catherine Montchamp-Moreau1 Received: 31 July 2018 / Revised: 14 October 2018 / Accepted: 24 October 2018 / Published online: 5 December 2018 © The Genetics Society 2018 Abstract Meiotic drivers are selfish genetic elements that promote their own transmission into the gametes, which results in intragenomic conflicts. In the Paris sex-ratio system of Drosophila simulans, drivers located on the X chromosome prevent the segregation of the heterochromatic Y chromosome during meiosis II, and hence the production of Y-bearing sperm. The resulting sex-ratio bias strongly impacts population dynamics and evolution. Natural selection, which tends to restore an equal sex ratio, favors the emergence of resistant Y chromosomes and autosomal suppressors. This is the case in the Paris 1234567890();,: 1234567890();,: sex-ratio system where the drivers became cryptic in most of the natural populations of D. simulans. Here, we used a quantitative trait locus (QTL) mapping approach based on the analysis of 152 highly recombinant inbred lines (RILs) to investigate the genetic determinism of autosomal suppression. The RILs were derived from an advanced intercross between two parental lines, one showing complete autosomal suppression while the other one was sensitive to drive. The confrontation of RIL autosomes with a reference XSR chromosome allowed us to identify two QTLs on chromosome 2 and three on chromosome 3, with strong epistatic interactions. -
Drosophila Melanogaster”
| PRIMER More than Meets the Eye: A Primer for “Timing of Locomotor Recovery from Anoxia Modulated by the white Gene in Drosophila melanogaster” Bradley M. Hersh1 Department of Biology, Allegheny College, Meadville, Pennsylvania 16335 ORCID ID: 0000-0003-2098-4417 (B.M.H.) SUMMARY A single gene might have several functions within an organism, and so mutational loss of that gene has multiple effects across different physiological systems in the organism. Though the white gene in Drosophila melanogaster was identified originally for its effect on fly eye color, an article by Xiao and Robertson in the June 2016 issue of GENETICS describes a function for the white gene in the response of Drosophila to oxygen deprivation. This Primer article provides background information on the white gene, the phenomenon of pleiotropy, and the molecular and genetic approaches used in the study to demonstrate a new behavioral function for the white gene. KEYWORDS education; Drosophila; pleiotropy; behavior TABLE OF CONTENTS Abstract 1369 Molecular Nature of the white Gene 1370 The Challenge of Pleiotropy 1370 Tissue-Specific Expression and RNA Interference (RNAi) 1371 Understanding the Experimental Details 1372 Establishing a behavioral phenotype 1372 Introgression: eliminating the trivial 1372 Dosage and position effect: complicating the story 1373 Molecular tricks: dissecting function and location of action 1373 Suggestions for Classroom Use 1374 Questions for Discussion 1374 HE white gene was the first Drosophila melanogaster the first attached-X and ring-X chromosome variants), is re- Tmutant discovered by Thomas Hunt Morgan in 1910, ported to have exclaimed “Oh, I do hope the white-eyed flyis following an exhaustive search for variant forms of the fly still alive” from her hospital bed after having just delivered (Morgan 1910). -
The 50Th Anniversary of the Discovery of Trisomy 21: the Past, Present, and Future of Research and Treatment of Down Syndrome
REVIEW The 50th anniversary of the discovery of trisomy 21: The past, present, and future of research and treatment of Down syndrome Andre´Me´garbane´, MD, PhD1,2, Aime´ Ravel, MD1, Clotilde Mircher, MD1, Franck Sturtz, MD, PhD1,3, Yann Grattau, MD1, Marie-Odile Rethore´, MD1, Jean-Maurice Delabar, PhD4, and William C. Mobley, MD, PhD5 Abstract: Trisomy 21 or Down syndrome is a chromosomal disorder HISTORICAL REVIEW resulting from the presence of all or part of an extra Chromosome 21. Clinical description It is a common birth defect, the most frequent and most recognizable By examining artifacts from the Tumaco-La Tolita culture, form of mental retardation, appearing in about 1 of every 700 newborns. which existed on the border between current Colombia and Although the syndrome had been described thousands of years before, Ecuador approximately 2500 years ago, Bernal and Briceno2 it was named after John Langdon Down who reported its clinical suspected that certain figurines depicted individuals with Tri- description in 1866. The suspected association of Down syndrome with somy 21, making these potteries the earliest evidence for the a chromosomal abnormality was confirmed by Lejeune et al. in 1959. existence of the syndrome. Martinez-Frias3 identified the syn- Fifty years after the discovery of the origin of Down syndrome, the term drome in a terra-cotta head from the Tolteca culture of Mexico “mongolism” is still inappropriately used; persons with Down syn- in 500 patients with AD in which the facial features of Trisomy drome are still institutionalized. Health problems associated with that 21 are clearly displayed. -
Sex – Linkage and Autosexing in Waterfowl
SEX – LINKAGE AND AUTOSEXING IN WATERFOWL CONTENTS Page The principles of sex-linkage .. .. .. .. .. .. 1 Sex-linkage in the common duck .. .. .. .. .. 3 Sex-linkage in the Muscovy duck .. .. .. .. .. 11 Sex-linkage in the common goose .. .. .. .. .. 12 Sex-linkage in the Chinese goose .. .. .. .. .. 14 Sex-linkage in the Mute swan .. .. .. .. .. .. 14 Autosexing in waterfowl .. .. .. .. .. .. 15 The Z chromosome .. .. .. .. .. .. .. 17 Summary .. .. .. .. .. .. .. .. .. 18 References .. .. .. .. .. .. .. .. .. 18 ------------------------ August 1977 F.M. Lancaster, Original draft published in the Formerly of : B.W.A. Journal – Dec. 1977 National Inst. of Poultry Husbandry, and April 1978. Harper Adam Agricultural College, Updated: November, 2016 Newport, Shropshire (Now Harper Adams University) 1 SEX – LINKAGE AND AUTOSEXING IN WATERFOWL It is only fair to state that the need for early sex determination, through sex linked crosses in waterfowl, is much less than in other classes of poultry. This is because it is easier to vent sex the day-olds of these species with very little training. Moreover, crossbreeding is rarely an option for exhibition and ornamental breeders. The exception is in commercial table duckling production where unfortunately since only white breeds are used, sex-linkage cannot be exploited. There may be some, however, who feel unable to attempt vent sexing, particularly with goslings which are more difficult to manipulate and more vulnerable to rough handling. Others may be interested in sex-linked inheritance for its own sake regardless of any practical advantage. THE PRINCIPLES OF SEX – LINKAGE Without going into too much technical detail I would like to explain the principles underlying sex-linkage. For a more detailed account of these principles the reader is referred to the excellent bulletin by Chris Hann (1966). -
Evolution on the X Chromosome: Unusual Patterns and Processes
REVIEWS Evolution on the X chromosome: unusual patterns and processes Beatriz Vicoso and Brian Charlesworth Abstract | Although the X chromosome is usually similar to the autosomes in size and cytogenetic appearance, theoretical models predict that its hemizygosity in males may cause unusual patterns of evolution. The sequencing of several genomes has indeed revealed differences between the X chromosome and the autosomes in the rates of gene divergence, patterns of gene expression and rates of gene movement between chromosomes. A better understanding of these patterns should provide valuable information on the evolution of genes located on the X chromosome. It could also suggest solutions to more general problems in molecular evolution, such as detecting selection and estimating mutational effects on fitness. Haldane’s rule Sex-chromosome systems have evolved independently the predictions of theoretical models of X-chromosome The disproportionate loss of many times, and have attracted much attention from evolution will shed light on the assumptions on which fitness to the heterogametic evolutionary geneticists. This work has mainly focused the models are based, such as the degree of dominance of sex in F1 hybrids between on the steps leading to the initial evolution of sex chro- mutations and the existence of opposing forces species. mosomes, and the genetic degeneration of Y and W of selection on males and females, leading to a better 1 Clade chromosomes . Here, we discuss the evolution of the understanding of the forces that shape the evolution of A group of species which share X chromosome in long-established sex-chromosome eukaryotic genomes. a common ancestor. -
Identification of Candidate ATP-Binding Cassette Transporter
www.nature.com/scientificreports OPEN Identifcation of candidate ATP- binding cassette transporter gene family members in Diaphorina citri (Hemiptera: Psyllidae) via adult tissues transcriptome analysis Zhengbing Wang 1, Fajun Tian1, Lijun Cai2, Jie Zhang2, Jiali Liu1 & Xinnian Zeng1* The ATP-binding cassette (ABC) transporters exist in all living organisms and play major roles in various biological functions by transporting a wide variety of substrates across membranes. The functions of ABC transporters in drug resistance have been extensively studied in vertebrates; however, they are rarely characterized in agricultural pests. The Asian citrus psyllid, Diaphorina citri, is one of the most damaging pests of the Citrus genus because of its transmission of Huanglongbing, also known as Yellow Dragon disease. In this study, the next-generation sequencing technique was applied to research the ABC transporters of D. citri. Fifty-three ABC transporter genes were found in the RNA-Seq data, and among these ABC transporters, 4, 4, 5, 2, 1, 4, 18 and 15 ABC proteins belonged to the ABCA-ABCH subfamilies, respectively. Diferent expression profles of 52 genes between imidacloprid-resistant and imidacloprid-susceptible strains were studied by qRT-PCR; 5 ABCGs and 4 ABCHs were signifcantly upregulated in the imidacloprid-resistant strain. In addition, fve of the nine upregulated genes were widely expressed in adult tissues in spatial expression analysis. The results suggest that these genes may play key roles in this phenotype. In general, this study contributed to our current understanding of D. citri resistance to insecticides. Te ATP-binding cassette (ABC) transporter family is one of the largest families of membrane proteins and uni- versally exists in all living organisms on Earth1. -
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). -
X Chromosome-Linked and Mitochondrial Gene Control of Leber
Proc. Nati. Acad. Sci. USA Vol. 88, pp. 8198-8202, September 1991 Genetics X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: Evidence from segregation analysis for dependence on X chromosome inactivation (two-locus inheritance/cytoplasmic inheritance/reduced penetrance) XIANGDONG BU AND JEROME I. ROTTER* Medical Genetics Birth Defects Center, Departments of Medicine and Pediatrics, Cedars-Sinai Medical Center and University of California School of Medicine, Los Angeles, CA 90048 Communicated by Giuseppe Attardi, July 1, 1991 ABSTRACT Leber hereditary optic neuropathy (LHON) linkage analysis, Chen et al. (5) excluded an X-linked gene has been shown to involve mutation(s) of mitochondrial DNA, alone as the cause for LHON. Earlier, Imai and Moriwaki (6) yet there remain several confusing aspects of Its inheritance not advanced the theory of cytoplasmic inheritance. The identi- explained by mitochondrial inheritance alone, including male fication of a mtDNA point mutation for LHON by Wallace et predominance, reduced penetrance, and a later age of onset in al. (3) and Singh et al. (4) subsequently proved the decades- females. By extending segregation analysis methods to disor- old hypothesis regarding the cytoplasmic inheritance of ders that involve both a mitochondrial and a nuclear gene LHON (6). As mentioned above, however, a mitochondrial locus, we show that the available pedigree data for LHON are mutation alone still cannot explain many ofthe features ofthe most consistent with a two-locus disorder, with one responsible transmission pattern of LHON, including the strong male gene being mitochondrial and the other nuclear and X chro- bias and the reduced penetrance of LHON in the maternal mosome-linked. -
Telomere-To-Telomere Assembly of a Complete Human X Chromosome W
https://doi.org/10.1038/s41586-020-2547-7 Accelerated Article Preview Telomere-to-telomere assembly of a W complete human X chromosome E VI Received: 30 July 2019 Karen H. Miga, Sergey Koren, Arang Rhie, Mitchell R. Vollger, Ariel Gershman, Andrey Bzikadze, Shelise Brooks, Edmund Howe, David Porubsky, GlennisE A. Logsdon, Accepted: 29 May 2020 Valerie A. Schneider, Tamara Potapova, Jonathan Wood, William Chow, Joel Armstrong, Accelerated Article Preview Published Jeanne Fredrickson, Evgenia Pak, Kristof Tigyi, Milinn Kremitzki,R Christopher Markovic, online 14 July 2020 Valerie Maduro, Amalia Dutra, Gerard G. Bouffard, Alexander M. Chang, Nancy F. Hansen, Amy B. Wilfert, Françoise Thibaud-Nissen, Anthony D. Schmitt,P Jon-Matthew Belton, Cite this article as: Miga, K. H. et al. Siddarth Selvaraj, Megan Y. Dennis, Daniela C. Soto, Ruta Sahasrabudhe, Gulhan Kaya, Telomere-to-telomere assembly of a com- Josh Quick, Nicholas J. Loman, Nadine Holmes, Matthew Loose, Urvashi Surti, plete human X chromosome. Nature Rosa ana Risques, Tina A. Graves Lindsay, RobertE Fulton, Ira Hall, Benedict Paten, https://doi.org/10.1038/s41586-020-2547-7 Kerstin Howe, Winston Timp, Alice Young, James C. Mullikin, Pavel A. Pevzner, (2020). Jennifer L. Gerton, Beth A. Sullivan, EvanL E. Eichler & Adam M. Phillippy C This is a PDF fle of a peer-reviewedI paper that has been accepted for publication. Although unedited, the Tcontent has been subjected to preliminary formatting. Nature is providing this early version of the typeset paper as a service to our authors and readers. The text andR fgures will undergo copyediting and a proof review before the paper is published in its fnal form. -
Down's Syndrome Phenotype and Autosomal Gene Inactivation in a Child with Presumed
J Med Genet: first published as 10.1136/jmg.19.2.144 on 1 April 1982. Downloaded from 144 Case reports Down's syndrome phenotype and Case report autosomal gene inactivation in a The proband, a 3 2-year-old white female, was referred for evaluation of developmental delay and child with presumed (X;21) de novo dysmorphic features. She was the 1790 g,. 39 week translocation gestation product of a gravida 1, para 0, 15-year-old female. The pregnancy was complicated with SUMMARY A 32-year-old female with clinical recurrent urinary tract infections. The mother used features of Down's syndrome was found to have alcohol and tobacco in small quantities during the extra chromosome material on the long arm of pregnancy. The labour lasted ten hours and the one of the X chromosomes, 46,XXq+. The delivery was vaginal with vertex presentation. The parental karyotypes were normal. In the light baby breathed and cried spontaneously. Her of the clinical features of the proband and the immediate neonatal course was uneventful, but her subsequent weight gain was poor. She had several banding characteristics of the extra chromosome admissions to hospital for repeated diarrhoea, otitis material, the patient was thought to have a de media, and pneumonia. She had two 'febrile' seizures novo (X;21) translocation. The results of late for which she was placed on phenobarbital. Her replication studies with BUdR and enzyme development was markedly delayed. She smiled at superoxide dismutase (SOD) assays in the 4 months, turned over at 7 months, walked at 18 proband suggest that: (1) the presumed (X;21) months, and was not yet toilet trained.