Genes, Genomes and Genetic Analysis
Total Page：16
File Type：pdf, Size：1020Kb
Load more
Recommended publications
-
Introduction and Historical Perspective
Chapter 1 Introduction and Historical Perspective “ Nothing in biology makes sense except in the light of evolution. ” modified by the developmental history of the organism, Theodosius Dobzhansky its physiology – from cellular to systems levels – and by the social and physical environment. Finally, behaviors are shaped through evolutionary forces of natural selection OVERVIEW that optimize survival and reproduction ( Figure 1.1 ). Truly, the study of behavior provides us with a window through Behavioral genetics aims to understand the genetic which we can view much of biology. mechanisms that enable the nervous system to direct Understanding behaviors requires a multidisciplinary appropriate interactions between organisms and their perspective, with regulation of gene expression at its core. social and physical environments. Early scientific The emerging field of behavioral genetics is still taking explorations of animal behavior defined the fields shape and its boundaries are still being defined. Behavioral of experimental psychology and classical ethology. genetics has evolved through the merger of experimental Behavioral genetics has emerged as an interdisciplin- psychology and classical ethology with evolutionary biol- ary science at the interface of experimental psychology, ogy and genetics, and also incorporates aspects of neuro- classical ethology, genetics, and neuroscience. This science ( Figure 1.2 ). To gain a perspective on the current chapter provides a brief overview of the emergence of definition of this field, it is helpful -
Barbara Mcclintock's World
Barbara McClintock’s World Timeline adapted from Dolan DNA Learning Center exhibition 1902-1908 Barbara McClintock is born in Hartford, Connecticut, the third of four children of Sarah and Thomas Henry McClintock, a physician. She spends periods of her childhood in Massachusetts with her paternal aunt and uncle. Barbara at about age five. This prim and proper picture betrays the fact that she was, in fact, a self-reliant tomboy. Barbara’s individualism and self-sufficiency was apparent even in infancy. When Barbara was four months old, her parents changed her birth name, Eleanor, which they considered too delicate and feminine for such a rugged child. In grade school, Barbara persuaded her mother to have matching bloomers (shorts) made for her dresses – so she could more easily join her brother Tom in tree climbing, baseball, volleyball, My father tells me that at the and football. age of five I asked for a set of tools. He My mother used to did not get me the tools that you get for an adult; he put a pillow on the floor and give got me tools that would fit in my hands, and I didn’t me one toy and just leave me there. think they were adequate. Though I didn’t want to tell She said I didn’t cry, didn’t call for him that, they were not the tools I wanted. I wanted anything. real tools not tools for children. 1908-1918 McClintock’s family moves to Brooklyn in 1908, where she attends elementary and secondary school. In 1918, she graduates one semester early from Erasmus Hall High School in Brooklyn. -
DNA: the Timeline and Evidence of Discovery
1/19/2017 DNA: The Timeline and Evidence of Discovery Interactive Click and Learn (Ann Brokaw Rocky River High School) Introduction For almost a century, many scientists paved the way to the ultimate discovery of DNA and its double helix structure. Without the work of these pioneering scientists, Watson and Crick may never have made their ground-breaking double helix model, published in 1953. The knowledge of how genetic material is stored and copied in this molecule gave rise to a new way of looking at and manipulating biological processes, called molecular biology. The breakthrough changed the face of biology and our lives forever. Watch The Double Helix short film (approximately 15 minutes) – hyperlinked here. 1 1/19/2017 1865 The Garden Pea 1865 The Garden Pea In 1865, Gregor Mendel established the foundation of genetics by unraveling the basic principles of heredity, though his work would not be recognized as “revolutionary” until after his death. By studying the common garden pea plant, Mendel demonstrated the inheritance of “discrete units” and introduced the idea that the inheritance of these units from generation to generation follows particular patterns. These patterns are now referred to as the “Laws of Mendelian Inheritance.” 2 1/19/2017 1869 The Isolation of “Nuclein” 1869 Isolated Nuclein Friedrich Miescher, a Swiss researcher, noticed an unknown precipitate in his work with white blood cells. Upon isolating the material, he noted that it resisted protein-digesting enzymes. Why is it important that the material was not digested by the enzymes? Further work led him to the discovery that the substance contained carbon, hydrogen, nitrogen and large amounts of phosphorus with no sulfur. -
I. Hox Genes 2
School ofMedicine Oregon Health Sciences University CERTIFICATE OF APPROVAL This is certify that the Ph.D. thesis of WendyKnosp has been approved Mentor/ Advisor ~ Member Member QUANTITATIVE ANALYSIS OF HOXA13 FUNCTION IN THE DEVELOPING LIMB By Wendy M. lt<nosp A DISSERTATION Presented to the Department of Molecular and Medical Genetics and the Oregon Health & Science University School of Medicine in partial fulfillment of the requirements for the degree of Doctor of Philosophy August 2006 TABLE OF CONTENTS LIST OF FIGURES iv LIST OF ABBREVIATIONS vii ACKNOWLEDGEMENTS X ABSTRACT xii CHAPTER 1: Introduction 1 I. Hox genes 2 A. Discovery of Hox genes in Drosophila melanogaster 2 B. Hox cluster colinearity and conservation 7 C. Human Hox mutations 9 D. Hoxa13: HFGS and Guttmacher syndromes 10 II. The Homeodomain 12 A. Homeodomain structure 12 B. DNA binding 14 Ill. Limb development 16 A. Patterning of the limb axes 16 B. Digit formation 20 C. lnterdigital programmed cell death 21 IV. BMPs and limb development 23 A. BMP signaling in the limb 23 B. BMP target genes 27 V. Hoxa13 and embryonic development 30 A. The Hoxa13-GFP mouse model 30 B. Hoxa13 mutant phenotypes 34 C. HOXA 13 homeodomain 35 D. HOXA 13 protein-protein interactions 36 E. HOXA 13 target genes 37 VI. Hypothesis and Rationale 39 CHAPTER 2: HOXA13 regulates Bmp2 and Bmp7 40 I. Abstract 42 II. Introduction 43 Ill. Results 46 IV. Discussion 69 v. Materials and Methods 75 VI. Acknowledgements 83 11 CHAPTER 3: Quantitative analysis of HOXA13 function 84 HOXA 13 regulation of Sostdc1 I. -
Jewels in the Crown
Jewels in the crown CSHL’s 8 Nobel laureates Eight scientists who have worked at Cold Max Delbrück and Salvador Luria Spring Harbor Laboratory over its first 125 years have earned the ultimate Beginning in 1941, two scientists, both refugees of European honor, the Nobel Prize for Physiology fascism, began spending their summers doing research at Cold or Medicine. Some have been full- Spring Harbor. In this idyllic setting, the pair—who had full-time time faculty members; others came appointments elsewhere—explored the deep mystery of genetics to the Lab to do summer research by exploiting the simplicity of tiny viruses called bacteriophages, or a postdoctoral fellowship. Two, or phages, which infect bacteria. Max Delbrück and Salvador who performed experiments at Luria, original protagonists in what came to be called the Phage the Lab as part of the historic Group, were at the center of a movement whose members made Phage Group, later served as seminal discoveries that launched the revolutionary field of mo- Directors. lecular genetics. Their distinctive math- and physics-oriented ap- Peter Tarr proach to biology, partly a reflection of Delbrück’s physics train- ing, was propagated far and wide via the famous Phage Course that Delbrück first taught in 1945. The famous Luria-Delbrück experiment of 1943 showed that genetic mutations occur ran- domly in bacteria, not necessarily in response to selection. The pair also showed that resistance was a heritable trait in the tiny organisms. Delbrück and Luria, along with Alfred Hershey, were awarded a Nobel Prize in 1969 “for their discoveries concerning the replication mechanism and the genetic structure of viruses.” Barbara McClintock Alfred Hershey Today we know that “jumping genes”—transposable elements (TEs)—are littered everywhere, like so much Alfred Hershey first came to Cold Spring Harbor to participate in Phage Group wreckage, in the chromosomes of every organism. -
The Contributions of George Beadle and Edward Tatum
| PERSPECTIVES Biochemical Genetics and Molecular Biology: The Contributions of George Beadle and Edward Tatum Bernard S. Strauss1 Department of Molecular Genetics and Cell Biology, The University of Chicago, Chicago, Illinois 60637 KEYWORDS George Beadle; Edward Tatum; Boris Ephrussi; gene action; history It will concern us particularly to take note of those cases in Genetics in the Early 1940s which men not only solved a problem but had to alter their mentality in the process, or at least discovered afterwards By the end of the 1930s, geneticists had developed a sophis- that the solution involved a change in their mental approach ticated, self-contained science. In particular, they were able (Butterfield 1962). to predict the patterns of inheritance of a variety of charac- teristics, most morphological in nature, in a variety of or- EVENTY-FIVE years ago, George Beadle and Edward ganisms although the favorites at the time were clearly Tatum published their method for producing nutritional S Drosophila andcorn(Zea mays). These characteristics were mutants in Neurospora crassa. Their study signaled the start of determined by mysterious entities known as “genes,” known a new era in experimental biology, but its significance is to be located at particular positions on the chromosomes. generally misunderstood today. The importance of the work Furthermore, a variety of peculiar patterns of inheritance is usually summarized as providing support for the “one gene– could be accounted for by alteration in chromosome struc- one enzyme” hypothesis, but its major value actually lay both ture and number with predictions as to inheritance pattern in providing a general methodology for the investigation of being quantitative and statistical. -
DNA the Central Dogma 3.4: Genes, Central Dogma • 3.5: Cell Division-Mitosis and Meiosis, • 3.6: Chromosomal Involvement, DNA Level of Involvement
U3 DNA the Central Dogma 3.4: Genes, Central Dogma • 3.5: Cell Division-Mitosis and Meiosis, • 3.6: Chromosomal involvement, DNA level of involvement. CENTRAL DOGMA • What is the central dogma of DNA? • The central dogma of molecular biology describes the two-step process, transcription and translation, by which the information in genes flows into proteins: DNA → RNA → protein. Transcription is the synthesis of an RNA copy of a segment of DNA. • Transcription is the synthesis of an RNA copy of a segment of DNA. RNA is synthesized by the enzyme RNA polymerase. Genes Are Located on Chromosomes (1910 – 1920s) Thomas Hunt Morgan discovers that genes are located on chromosomes. Working on fruit flies, he concludes that certain traits are linked to gender and that those traits are probably carried on one of the sex chromosomes (X or Y). He hypothesizes that other genes are also carried on specific chromosomes. Using chromosome recombination, he and his students map the locations of genes on chromosomes. Morgan and his students write the seminal book “The Mechanism of Mendelian Heredity”. Genes Control Biochemical Events George Beadle and Edward Tatum (1930) discover through experiments on neurospora, a bread mold, that genes are responsible for the production of enzymes. Their report is the genesis of the "one gene-one enzyme" concept. DNA Is the Genetic Material (1928, 1944, 1952) ◊ Several scientists prove that DNA is the chemical basis of genetic information. ◊ Oswald Avery proves that DNA carries genetic information. ◊ Linus Pauling discovers that many proteins take the shape of a spiral, like a spring coil. -
Barbara Mcclintock
Barbara McClintock Lee B. Kass and Paul Chomet Abstract Barbara McClintock, pioneering plant geneticist and winner of the Nobel Prize in Physiology or Medicine in 1983, is best known for her discovery of transposable genetic elements in corn. This chapter provides an overview of many of her key findings, some of which have been outlined and described elsewhere. We also provide a new look at McClintock’s early contributions, based on our readings of her primary publications and documents found in archives. We expect the reader will gain insight and appreciation for Barbara McClintock’s unique perspective, elegant experiments and unprecedented scientific achievements. 1 Introduction This chapter is focused on the scientific contributions of Barbara McClintock, pioneering plant geneticist and winner of the Nobel Prize in Physiology or Medicine in 1983 for her discovery of transposable genetic elements in corn. Her enlightening experiments and discoveries have been outlined and described in a number of papers and books, so it is not the aim of this report to detail each step in her scientific career and personal life but rather highlight many of her key findings, then refer the reader to the original reports and more detailed reviews. We hope the reader will gain insight and appreciation for Barbara McClintock’s unique perspective, elegant experiments and unprecedented scientific achievements. Barbara McClintock (1902–1992) was born in Hartford Connecticut and raised in Brooklyn, New York (Keller 1983). She received her undergraduate and graduate education at the New York State College of Agriculture at Cornell University. In 1923, McClintock was awarded the B.S. -
MCDB 5220 Methods and Logics April 21 2015 Marcelo Bassalo
Cracking the Genetic Code MCDB 5220 Methods and Logics April 21 2015 Marcelo Bassalo The DNA Saga… so far Important contributions for cracking the genetic code: • The “transforming principle” (1928) Frederick Griffith The DNA Saga… so far Important contributions for cracking the genetic code: • The “transforming principle” (1928) • The nature of the transforming principle: DNA (1944 - 1952) Oswald Avery Alfred Hershey Martha Chase The DNA Saga… so far Important contributions for cracking the genetic code: • The “transforming principle” (1928) • The nature of the transforming principle: DNA (1944 - 1952) • X-ray diffraction and the structure of proteins (1951) Linus Carl Pauling The DNA Saga… so far Important contributions for cracking the genetic code: • The “transforming principle” (1928) • The nature of the transforming principle: DNA (1944 - 1952) • X-ray diffraction and the structure of proteins (1951) • The structure of DNA (1953) James Watson and Francis Crick The DNA Saga… so far Important contributions for cracking the genetic code: • The “transforming principle” (1928) • The nature of the transforming principle: DNA (1944 - 1952) • X-ray diffraction and the structure of proteins (1951) • The structure of DNA (1953) How is DNA (4 nucleotides) the genetic material while proteins (20 amino acids) are the building blocks? ? DNA Protein ? The Coding Craze ? DNA Protein What was already known? • DNA resides inside the nucleus - DNA is not the carrier • Protein synthesis occur in the cytoplasm through ribosomes {• Only RNA is associated with ribosomes (no DNA) - rRNA is not the carrier { • Ribosomal RNA (rRNA) was a homogeneous population The “messenger RNA” hypothesis François Jacob Jacques Monod The Coding Craze ? DNA RNA Protein RNA Tie Club Table from Wikipedia The Coding Craze Who won the race Marshall Nirenberg J. -
Happy Birthday to Renato Dulbecco, Cancer Researcher Extraordinaire
pbs.org http://www.pbs.org/newshour/updates/happy-birthday-renato-dulbecco-cancer-researcher-extraordinaire/ Happy birthday to Renato Dulbecco, cancer researcher extraordinaire Photo of Renato Dulbecco (public domain) Every elementary school student knows that Feb. 22 is George Washington’s birthday. Far fewer (if any) know that it is also the birthday of the Nobel Prize-winning scientist Renato Dulbecco. While not the father of his country — he was born in Italy and immigrated to the United States in 1947 — Renato Dulbecco is credited with playing a crucial role in our understanding of oncoviruses, a class of viruses that cause cancer when they infect animal cells. Dulbecco was born in Catanzaro, the capital of the Calabria region of Italy. Early in his childhood, after his father was drafted into the army during World War I, his family moved to northern Italy (first Cuneo, then Turin, and thence to Liguria). A bright boy, young Renato whizzed through high school and graduated in 1930 at the age of 16. From there, he attended the University of Turin, where he studied mathematics, physics, and ultimately medicine. Dulbecco found biology far more fascinating than the actual practice of medicine. As a result, he studied under the famed anatomist, Giuseppe Levi, and graduated at age 22 in 1936 at the top of his class with a degree in morbid anatomy and pathology (in essence, the study of disease). Soon after receiving his diploma, Dr. Dulbecco was inducted into the Italian army as a medical officer. Although he completed his military tour of duty by 1938, he was called back in 1940 when Italy entered World War II. -
Martha Chase Dies
PublisherInfo PublisherName : BioMed Central PublisherLocation : London PublisherImprintName : BioMed Central Martha Chase dies ArticleInfo ArticleID : 4830 ArticleDOI : 10.1186/gb-spotlight-20030820-01 ArticleCitationID : spotlight-20030820-01 ArticleSequenceNumber : 182 ArticleCategory : Research news ArticleFirstPage : 1 ArticleLastPage : 4 RegistrationDate : 2003–8–20 ArticleHistory : OnlineDate : 2003–8–20 ArticleCopyright : BioMed Central Ltd2003 ArticleGrants : ArticleContext : 130594411 Milly Dawson Email: [email protected] Martha Chase, renowned for her part in the pivotal "blender experiment," which firmly established DNA as the substance that transmits genetic information, died of pneumonia on August 8 in Lorain, Ohio. She was 75. In 1952, Chase participated in what came to be known as the Hershey-Chase experiment in her capacity as a laboratory assistant to Alfred D. Hershey. He won a Nobel Prize for his insights into the nature of viruses in 1969, along with Max Delbrück and Salvador Luria. Peter Sherwood, a spokesman for Cold Spring Harbor Laboratory, where the work took place, described the Hershey-Chase study as "one of the most simple and elegant experiments in the early days of the emerging field of molecular biology." "Her name would always be associated with that experiment, so she is some sort of monument," said her longtime friend Waclaw Szybalski, who met her when he joined Cold Spring Harbor Laboratory in 1951 and who is now a professor of oncology at the University of Wisconsin-Madison. Szybalski attended the first staff presentation of the Hershey-Chase experiment and was so impressed that he invited Chase for dinner and dancing the same evening. "I had an impression that she did not realize what an important piece of work that she did, but I think that I convinced her that evening," he said. -
The Street Railway Journal
; OCT 2 1890 I NEW YORK: I I CHICAGO* ) Vol. i. liberty Street.) October, 1885. I 32 \12 Lakeside Building./ NO. 12. President Calvin A. Richards. advance of the times; to do that, has now family circle engrossing all his time out- become a motto with him and guides him side of business hours. The subject of our sketch, President of in all his railroad transactions. the American Street Railway Association The railroad which he represents is now The Car Timer's Last Gasp. and of the Metropolitan Railroad, of Bos- probably the largest street railroad in the ton, was born in Dorchester Mass., fifty- world in equipment, in miles of track, and "Timers is like machines," said a gray, seven years ago, and received his educa- in the number of passengers carried. oracular driver on the Third avenue line. tion in the public schools of "Timers is like machines. Boston. His business train- They gets so used to timin' ing was received with his that they can't let up, but father, an old and honored keeps along at it sleepin' or merchant of Boston. wakin'. If some o' them Mr. Richards was en- fellers was a-dyin' they'd gaged in business, him- want to spot the ticker afore self, until 1872, when he peggin' out, just to see if retired from active work, death was up to the scratch. and with his family, made Why, there was Pete Long a long visit to Europe. On —the allfiredest particular- his return from abroad, he ist man I ever see.