Glossary of Genetic Terms for Patients
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(APOCI, -C2, and -E and LDLR) and the Genes C3, PEPD, and GPI (Whole-Arm Translocation/Somatic Cell Hybrids/Genomic Clones/Gene Family/Atherosclerosis) A
Proc. Natl. Acad. Sci. USA Vol. 83, pp. 3929-3933, June 1986 Genetics Regional mapping of human chromosome 19: Organization of genes for plasma lipid transport (APOCI, -C2, and -E and LDLR) and the genes C3, PEPD, and GPI (whole-arm translocation/somatic cell hybrids/genomic clones/gene family/atherosclerosis) A. J. LUSIS*t, C. HEINZMANN*, R. S. SPARKES*, J. SCOTTt, T. J. KNOTTt, R. GELLER§, M. C. SPARKES*, AND T. MOHANDAS§ *Departments of Medicine and Microbiology, University of California School of Medicine, Center for the Health Sciences, Los Angeles, CA 90024; tMolecular Medicine, Medical Research Council Clinical Research Centre, Harrow, Middlesex HA1 3UJ, United Kingdom; and §Department of Pediatrics, Harbor Medical Center, Torrance, CA 90509 Communicated by Richard E. Dickerson, February 6, 1986 ABSTRACT We report the regional mapping of human from defects in the expression of the low density lipoprotein chromosome 19 genes for three apolipoproteins and a lipopro- (LDL) receptor and is strongly correlated with atheroscle- tein receptor as well as genes for three other markers. The rosis (15). Another relatively common dyslipoproteinemia, regional mapping was made possible by the use of a reciprocal type III hyperlipoproteinemia, is associated with a structural whole-arm translocation between the long arm of chromosome variation of apolipoprotein E (apoE) (16). Also, a variety of 19 and the short arm of chromosome 1. Examination of three rare apolipoprotein deficiencies result in gross perturbations separate somatic cell hybrids containing the long arm but not of plasma lipid transport; for example, apoCII deficiency the short arm of chromosome 19 indicated that the genes for results in high fasting levels oftriacylglycerol (17). -
GENOME GENERATION Glossary
GENOME GENERATION Glossary Chromosome An organism’s DNA is packaged into chromosomes. Humans have 23 pairs of chromosomesincluding one pair of sex chromosomes. Women have two X chromosomes and men have one X and one Y chromosome. Dominant (see also recessive) Genes come in pairs. A dominant form of a gene is the “stronger” version that will be expressed. Therefore if someone has one dominant and one recessive form of a gene, only the characteristics of the dominant form will appear. DNA DNA is the long molecule that contains the genetic instructions for nearly all living things. Two strands of DNA are twisted together into a double helix. The DNA code is made up of four chemical letters (A, C, G and T) which are commonly referred to as bases or nucleotides. Gene A gene is a section of DNA that is the code for a specific biological component, usually a protein. Each gene may have several alternative forms. Each of us has two copies of most of our genes, one copy inherited from each parent. Most of our traits are the result of the combined effects of a number of different genes. Very few traits are the result of just one gene. Genetic sequence The precise order of letters (bases) in a section of DNA. Genome A genome is the complete DNA instructions for an organism. The human genome contains 3 billion DNA letters and approximately 23,000 genes. Genomics Genomics is the study of genomes. This includes not only the DNA sequence itself, but also an understanding of the function and regulation of genes both individually and in combination. -
Mitosis Vs. Meiosis
Mitosis vs. Meiosis In order for organisms to continue growing and/or replace cells that are dead or beyond repair, cells must replicate, or make identical copies of themselves. In order to do this and maintain the proper number of chromosomes, the cells of eukaryotes must undergo mitosis to divide up their DNA. The dividing of the DNA ensures that both the “old” cell (parent cell) and the “new” cells (daughter cells) have the same genetic makeup and both will be diploid, or containing the same number of chromosomes as the parent cell. For reproduction of an organism to occur, the original parent cell will undergo Meiosis to create 4 new daughter cells with a slightly different genetic makeup in order to ensure genetic diversity when fertilization occurs. The four daughter cells will be haploid, or containing half the number of chromosomes as the parent cell. The difference between the two processes is that mitosis occurs in non-reproductive cells, or somatic cells, and meiosis occurs in the cells that participate in sexual reproduction, or germ cells. The Somatic Cell Cycle (Mitosis) The somatic cell cycle consists of 3 phases: interphase, m phase, and cytokinesis. 1. Interphase: Interphase is considered the non-dividing phase of the cell cycle. It is not a part of the actual process of mitosis, but it readies the cell for mitosis. It is made up of 3 sub-phases: • G1 Phase: In G1, the cell is growing. In most organisms, the majority of the cell’s life span is spent in G1. • S Phase: In each human somatic cell, there are 23 pairs of chromosomes; one chromosome comes from the mother and one comes from the father. -
Review Cell Fusion and Some Subcellular Properties Of
REVIEW CELL FUSION AND SOME SUBCELLULAR PROPERTIES OF HETEROKARYONS AND HYBRIDS SAIMON GORDON From the Genetics Laboratory, Department of Biochemistry, The University of Oxford, England, and The Rockefeller University, New York 10021 I. INTRODUCTION The technique of somatic cell fusion has made it first cell hybrids obtained by this method. The iso- possible to study cell biology in an unusual and lation of hybrid cells from such mixed cultures direct way. When cells are mixed in the presence of was greatly facilitated by the Szybalski et al. (6) Sendai virus, their membranes coalesce, the cyto- and Littlefield (7, 8) adaptation of a selective me- plasm becomes intermingled, and multinucleated dium containing hypoxanthine, aminopterin, and homo- and heterokaryons are formed by fusion of thymidine (HAT) to mammalian systems. similar or different cells, respectively (1, 2). By Further progress followed the use of Sendai fusing cells which contrast in some important virus by Harris and Watkins to increase the biologic property, it becomes possible to ask ques- frequency of heterokaryon formation (9). These tions about dominance of control processes, nu- authors exploited the observation by Okada that cleocytoplasmic interactions, and complementa- UV irradiation could be used to inactivate Sendai tion in somatic cell heterokaryons. The multinucle- virus without loss of fusion efficiency (10). It was ate cell may divide and give rise to mononuclear therefore possible to eliminate the problem of virus cells containing chromosomes from both parental replication in fused cells. Since many cells carry cells and become established as a hybrid cell line receptors for Sendai virus, including those of able to propagate indefinitely in vitro. -
An Overview of the Independent Histories of the Human Y Chromosome and the Human Mitochondrial Chromosome
The Proceedings of the International Conference on Creationism Volume 8 Print Reference: Pages 133-151 Article 7 2018 An Overview of the Independent Histories of the Human Y Chromosome and the Human Mitochondrial chromosome Robert W. Carter Stephen Lee University of Idaho John C. Sanford Cornell University, Cornell University College of Agriculture and Life Sciences School of Integrative Plant Science,Follow this Plant and Biology additional Section works at: https://digitalcommons.cedarville.edu/icc_proceedings DigitalCommons@Cedarville provides a publication platform for fully open access journals, which means that all articles are available on the Internet to all users immediately upon publication. However, the opinions and sentiments expressed by the authors of articles published in our journals do not necessarily indicate the endorsement or reflect the views of DigitalCommons@Cedarville, the Centennial Library, or Cedarville University and its employees. The authors are solely responsible for the content of their work. Please address questions to [email protected]. Browse the contents of this volume of The Proceedings of the International Conference on Creationism. Recommended Citation Carter, R.W., S.S. Lee, and J.C. Sanford. An overview of the independent histories of the human Y- chromosome and the human mitochondrial chromosome. 2018. In Proceedings of the Eighth International Conference on Creationism, ed. J.H. Whitmore, pp. 133–151. Pittsburgh, Pennsylvania: Creation Science Fellowship. Carter, R.W., S.S. Lee, and J.C. Sanford. An overview of the independent histories of the human Y-chromosome and the human mitochondrial chromosome. 2018. In Proceedings of the Eighth International Conference on Creationism, ed. J.H. -
Gene Therapy Product Quality Aspects in the Production of Vectors and Genetically Modified Somatic Cells
_____________________________________________________________ 3AB6a ■ GENE THERAPY PRODUCT QUALITY ASPECTS IN THE PRODUCTION OF VECTORS AND GENETICALLY MODIFIED SOMATIC CELLS Guideline Title Gene Therapy Product Quality Aspects in the Production of Vectors and Genetically Modified Somatic Cells Legislative basis Directive 75/318/EEC as amended Date of first adoption December 1994 Date of entry into July 1995 force Status Last revised December 1994 Previous titles/other Gene Therapy Products - Quality, Safety and Efficacy references Aspects in the Production of Vectors and Genetically Modified Somatic Cells/ III/5863/93 Additional Notes This note for guidance is intended to facilitate the collection and submission of data to support applications for marketing authorisation within the EC for gene therapy products derived by biotechnology/high technology and intended for medicinal use in man. CONTENTS 1. INTRODUCTION 2. POINTS TO CONSIDER IN MANUFACTURE 3. DEVELOPMENT GENETICS 4. PRODUCTION 5. PURIFICATION 6. PRODUCT CHARACTERISATION 7. CONSISTENCY AND ROUTINE BATCH CONTROL OF FINAL PROCESSED PRODUCT 8. SAFETY REGULATIONS 275 _____________________________________________________________ 3AB6a ■ GENE THERAPY PRODUCT QUALITY ASPECTS IN THE PRODUCTION OF VECTORS AND GENETICALLY MODIFIED SOMATIC CELLS 1. INTRODUCTION Somatic gene therapy encompasses medical interventions which involve the deliberate modification of the genetic material of somatic cells. Scientific progress over the past decade has led to the development of novel methods for the transfer of new genetic material into patients’ cells. The aims of these methods include the efficient transfer and functional expression or manifestation of the transferred genetic material in a target somatic cell population for therapeutic, prophylactic or diagnostic purposes. Although in the majority of cases the intention is the addition and expression of a gene to yield a protein product, the transfer of nucleic acids with the aim of modifying the function or expression of an endogenous gene, e.g. -
Human Germline Genome Editing: Fact Sheet
Human germline genome editing: fact sheet Purpose • To contribute to evidence-informed discussions about human germline genome editing. KEY TAKEAWAYS • Gene editing offers the potential to improve human health in ways not previously possible. • Making changes to human genes that can be passed on to future generations is prohibited in Australia. • Unresolved questions remain on the possible long-term impacts, unintended consequences, and ethical issues associated with introducing heritable changes by editing of the genome of human gametes (sperm and eggs) and embryos. • AusBiotech believes the focus of human gene editing should remain on non-inheritable changes until such time as the scientific evidence, regulatory frameworks and health care models have progressed sufficiently to warrant consideration of any heritable genetic edits. Gene editing Gene editing is the insertion, deletion, or modification of DNA to modify an organism’s specific genetic characteristics. New and evolving gene editing techniques and tools (e.g. CRISPR) allow editing of genes with a level of precision that increases its applications across the health, agricultural, and industrial sectors. These breakthrough techniques potentially offer a range of different options for treating devastating human diseases and delivering environmentally sustainable food production systems that can feed the world’s growing population, which is expected to exceed nine billion by 2050. The current primary application of human gene editing is on non-reproductive cells (‘somatic’ cells) -
Cell Division- Ch 5
Cell Division- Mitosis and Meiosis When do cells divide? Cell size . One of most important factors affecting size of the cell is size of cell membrane . Cell must remain relatively small to survive (why?) – Cell membrane has to be big enough to take in nutrients and eliminate wastes – As cells get bigger, the volume increases faster than the surface area – Small cells have a larger surface area to volume ratio than larger cells to help with nutrient intake and waste elimination . When a cell reaches its max size, the nucleus starts cell division: called MITOSIS or MEIOSIS Mitosis . General Information – Occurs in somatic (body) cells ONLY!! – Nickname: called “normal” cell division – Produces somatic cells only . Background Info – Starts with somatic cell in DIPLOID (2n) state . Cell contains homologous chromosomes- chromosomes that control the same traits but not necessarily in the same way . 1 set from mom and 1 set from dad – Ends in diploid (2n) state as SOMATIC cells – Goes through one set of divisions – Start with 1 cell and end with 2 cells Mitosis (cont.) . Accounts for three essential life processes – Growth . Result of cell producing new cells . Develop specialized shapes/functions in a process called differentiation . Rate of cell division controlled by GH (Growth Hormone) which is produced in the pituitary gland . Ex. Nerve cell, intestinal cell, etc. – Repair . Cell regenerates at the site of injury . Ex. Skin (replaced every 28 days), blood vessels, bone Mitosis (cont.) – Reproduction . Asexual – Offspring produced by only one parent – Produce offspring that are genetically identical – MITOSIS – Ex. Bacteria, fungi, certain plants and animals . -
Cell Growth and Reproduction Lesson 6.2: Chromosomes and DNA Replication
Chapter 6: Cell Growth and Reproduction Lesson 6.2: Chromosomes and DNA Replication Cell reproduction involves a series of steps that always begin with the processes of interphase. During interphase the cell’s genetic information which is stored in its nucleus in the form of chromatin, composed of both mitotic and interphase chromosomes molecules of protein complexes and DNA strands that are loosely coiled winds tightly to be replicated. It is estimated that the DNA in human cells consists of approximately three billion nucleotides. If a DNA molecule was stretched out it would measure over 20 miles in length and all of it is stored in the microscopic nuclei of human cells. This lesson will help you to understand how such an enormous amount of DNA is coiled and packed in a complicated yet organized manner. During cell reproduction as a cell gets ready to divide the DNA coils even more into tightly compact structures. Lesson Objectives • Describe the coiled structure of chromosomes. • Understand that chromosomes are coiled structures made of DNA and proteins. They form after DNA replicates and are the form in which the genetic material goes through cell division. • Discover that DNA replication is semi-conservative; half of the parent DNA molecule is conserved in each of the two daughter DNA molecules. • Outline discoveries that led to knowledge of DNA’s structure and function. • Examine the processes of DNA replication. Vocabulary • centromere • double helix • Chargaff’s rules • histones • chromatid • nucleosomes • chromatin • semi-conservative DNA replication • chromosome • sister chromatids • DNA replication • transformation Introduction In eukaryotic cells, the nucleus divides before the cell itself divides. -
Metabolism As Related to Chromosome Structure and the Duration of Life by John W
METABOLISM AS RELATED TO CHROMOSOME STRUCTURE AND THE DURATION OF LIFE BY JOHN W. GOWEN (From the Department of Animal Pathology of The Rockefeller Institute for Medical Research, Princeton, N. ].) (Received for publication, December 16, 1930) In this paper it is proposed to measure the katabollsm of four fundamentally distinct groups of animals all within the same species and having closely similar genetic constitutions. These groups differ in what are perhaps the most significant elements of life. The chromosome structure of the first group is that of the type female, diploid; the second group is that of the type male, diploid but having one X and Y instead of the two X-chromosomes of the type female; the third group of flies are triploid, three sex chromosomes and three sets of autosomes; the fourth group, sex-intergrades has two X-chromo- somes and three sets of autosomes. Katabolism is a direct function of the cells composing the bodies of all animals. The cells of these four groups differ in size; the type male cells are the smallest; the females are somewhat, possibly a tenth, larger; the sex-intergrades and triploid cells are a half larger. The larger cell size suggests that any function within the cell would be performed in a larger way. The carbon dioxide production should enable us to measure physiologically the extent of this activity and present us with data on that fundamental point the relation of cell size to metabolic activity. The durations of life of these different groups have been measured. The forms with the balanced chromosome complexes within their cells live the longest time, the unbalanced groups the least. -
Bio 103 Lecture
Biology 103 Lecture Mitosis and Meiosis Study Guide (Cellular Basis of Reproduction - Chapter 8) Like begets like, more or less · does sexual reproduction and genetics allow for a maple tree to produce a sea star? · do offspring inherit genetic material from both parents in asexual reproduction? · do offspring inherit genetic material from both parents in sexual reproduction? · what is the name of structures that contain most of an organism's DNA? Cells arise only from preexisting cells · what two main roles does cell division play in perpetuating the life cycle of animals and other multicellular organisms? Prokaryotes reproduce by binary fission · what is the name of the type of cell division used by prokaryotes to reproduce themselves? · do prokaryotes have DNA? · do prokaryotes replicate their chromosome prior to division? · is binary fission considered asexual or sexual reproduction and why? The large, complex chromosomes of eukaryotes duplicate with each cell division · in what structure of the eukaryotic cell do most of the genes occur? · what are genes and where are they located? · what is chromatin and how is it different from chromosomes? · understand chromosome duplication and distribution The cell cycle multiplies cells · define cell cycle · what are the major components of the cell cycle? · in what phase of the cell cycle does the cell spend the most time? · what occurs during cytokinesis? Cell division is a continuum of dynamic changes · know that the main things that occur during the four stages of mitosis are formation -
Sexual Reproduction: Meiosis, Germ Cells, and Fertilization 21
Chapter 21 Sexual Reproduction: Meiosis, Germ Cells, and Fertilization 21 Sex is not absolutely necessary. Single-celled organisms can reproduce by sim- In This Chapter ple mitotic division, and many plants propagate vegetatively by forming multi- cellular offshoots that later detach from the parent. Likewise, in the animal king- OVERVIEW OF SEXUAL 1269 dom, a solitary multicellular Hydra can produce offspring by budding (Figure REPRODUCTION 21–1), and sea anemones and marine worms can split into two half-organisms, each of which then regenerates its missing half. There are even some lizard MEIOSIS 1272 species that consist only of females that reproduce without mating. Although such asexual reproduction is simple and direct, it gives rise to offspring that are PRIMORDIAL GERM 1282 genetically identical to their parent. Sexual reproduction, by contrast, mixes the CELLS AND SEX DETERMINATION IN genomes from two individuals to produce offspring that differ genetically from MAMMALS one another and from both parents. This mode of reproduction apparently has great advantages, as the vast majority of plants and animals have adopted it. EGGS 1287 Even many procaryotes and eucaryotes that normally reproduce asexually engage in occasional bouts of genetic exchange, thereby producing offspring SPERM 1292 with new combinations of genes. This chapter describes the cellular machinery of sexual reproduction. Before discussing in detail how the machinery works, FERTILIZATION 1297 however, we will briefly consider what sexual reproduction involves and what its benefits might be. OVERVIEW OF SEXUAL REPRODUCTION Sexual reproduction occurs in diploid organisms, in which each cell contains two sets of chromosomes, one inherited from each parent.