History of genetics BSMLS/BSMT 1st Semester AY 2008-2009
SCIENCE OF HEREDITY AND VARIETY Transmission at various levels (Molecular to populations to evolution of species)
Crizelda Dayrit Liwanag, MS, RMT College of Allied Medical Professions Angeles University Foundation
Pick as many pebbles as you can… (Romans 8:28)
OUTLINE Introduction Review
of Branches and Relevance
History Biblical
Times Era of Transmission Genetics Birth of Cytogenetics Advent of Molecular Genetics Future
endeavors
* Please take note that terms to remember are embedded within the discussion 3
BIBLICAL TIMES For everything, absolutely everything, Above and below, visible and invisible, ... Everything got started in Him and finds its purpose in Him (Colossians 1:16)
4
GENESIS TO REVELATION Genealogy
and Prophecy
I
am your Creator. You were in my care even before you were born (Isaiah 44:2a) Not by accident, not by coincidence, everything is planned Like
begets like
...every
good tree produces good fruit and a bad tree produces bad fruit ...(Matthew 7:17)
5
JACOB First
geneticist Agriculture (farming and breeding) Pagans thought it was magic
6
GREEKS, ROMANS, ETC.
Chinese
Hindus
Caste system
Romans
Waltzing mice
Killed criminals
Greeks
Pregnant mothers were advised to look at statues Hippocrates
Aristotle
Fluids Girls were mistakes/interferences
Dutch
Anton van Leeuwenhoek Homunculus 7
ERA OF TRANSMISSION GENETICS
How traits are vertically transmitted 8
1859 – CHARLES DARWIN Publication he
of “The Origin of Species”
promoted the theory of natural selection
members of a population who are better adapted to the environment are more likely to survive and pass on their traits
No
theory regarding how traits are passed from generation to generation has been proven true in experiments as of Darwin's time
9
1866 – GREGOR MENDEL Austrian
monk “Father of genetics." Laws
of inheritance based on experiments with pea plants
Genes and alleles Dominance and recessiveness Homozygosity and heterozygosity Independent assortment
His
studies were ignored well after his death in 1884 His research lays the foundation for studies of inheritance in the twentieth century and beyond 10
IMPORTANT TERMS BEFORE WE PROCEED... Vertical
transmission Congenital Familial Infectious Mendelian trait Multifactorial trait Pedigree
11
BIRTH OF CYTOGENETICS Chromosomes take the spotlight
12
1842 – KARL VILHELM First
observed chromosomes in plant cells
13
1882 – WALTER FLEMMING German
biologist Staining cells with dyes Discovered rod-shaped bodies he called "chromosomes” in salamanders
1888 – VON WALDEYER Coined
the word “chromosome”
Autosome Sex
chromosome
14
1902 - WALTER SUTTON American
biologist Demonstrates that chromosomes exist in pairs that are similar in structure In light of Mendel's theory that genetic "factors" segregate, he concludes that hereditary factors must lie on chromosomes.
15
1902 - ARCHIBALD GARROD Discovery
of Alkaptonuria (recessive trait) First evidence that the study of inheritance can benefit the practice of medicine
16
1906 The
term "genetics“ was used for the first time.
17
1909 - WILHELM JOHANNSEN Danish
botanist Proposed the term "gene" (from the Greek word "genos" which means "birth") to refer to a Mendelian hereditary factor Also proposed two terms:
§Genotype §Phenotype Levitsky:
§Karyotype 18
1915 - THOMAS HUNT MORGAN An
American geneticist Publication of “The Mechanism of Mendelian Heredity Results
from experiments with fruit flies that prove genes are lined up along chromosomes. Also described the principle of "linkage" "genetic map" of fruit fly This work established the basis for gene mapping principles still used today.
19
ADVENT OF MOLECULAR GENETICS DNA Structure and Function (DNA as the transforming substance and not proteins)
20
FRIEDRICH MIESCHER Nuclein
21
1928 – FRED GRIFFITH Called
the change from rough to smooth by heat killed bacteria “transformation
22
1944 – AVERY, MACLEOD & MACLYN Oswald
Avery, Colin MacLeod, and Maclyn McCarty report evidence that, at least in bacteria, the molecule that carries genetic information is DNA
23
1944 – AVERY, MACLEOD & MACLYN
24
1952 – MARTHA CHASE & ALFRED HERSHEY Provided
final proof that DNA is the substance that transmits inherited traits from one generation to the next. Hershey received Nobel Prize in 1969
25
1953 – J. WATSON & F. CRICK determined
structure of the DNA molecule
Base
pairing Nobel Prize for this in 1962
26
April 25, 1953 MOLECULAR STRUCTURE OF NUCLEIC ACIDS A Structure for Deoxyribose Nucleic Acid We wish to suggest a structure for the salt of deoxyribose nucleic acid (D.N.A.). This structure has novel features which are of considerable biological interest. … It has not escaped our notice that the specific pairing we have postulated immediately suggests a possible copying mechanism for the genetic material. … J. D. WATSON F. H. C. CRICK Medical Research Council Unit for the Study of Molecular Structure of Biological Systems, Cavendish Laboratory, Cambridge.
Maurice wilkins Rosalind franklin
X-ray Crystallography of DNA 28
CHARGAFF’S RULES: A=T AND G=C PURINES = PYRIMIDINES
1955 - JOE HIN TJIO Determined
that the number of chromosomes in humans is 46 For
30 years, the number was believed to be 48
33
1961 – BRENNER, JACOB, MESELSON Sydney
Brenner, Francois Jacob, and Matthew Meselson Identified the role of RNA
34
1966 – NIRENBERG & KHORANA Marshall
Nirenberg and H. Gobind Khorana lead teams that crack the genetic code Central dogma (still in connection with Watson and Crick’s studies)
35
36
CURRENT TRENDS Biotechnology, Medical Genetics and Genomics
37
1969 - HYBRIDIZATION FISH
38
1977 – FRED SANGER Chain
termination method for sequencing DNA
39
1978 – DAVID BOTSTEIN Discovered
RFLP
40
1980 – KARY MULLIS PCR
41
1983 Mapping
of chromosome 4
Expansion
Family
for HD gene (produces Huntingtin)
in Venezuela with Huntington disease
42
1983 – BARBARA MCCLINTOCK Was
awarded the NOBEL PRIZE for her work with maize Discovery
of transposons or jumping genes Although her work began in 1931 (with Harriet Crighton)
43
1984 – ALEC JEFFREYS DNA
fingerprinting
44
1990 Human
Genome Project
45
1992 – DANIEL COHEN Map
of genetic markers on all 23 human chromosomes
1993 – ALLEN ROSES Major
susceptibility gene for the late-onset form of Alzheimer Disease
46
1994 Publication
of a high density genetic map of the human genome consisting of almost 6,000 markers in Science Journal/Magazine Linkage studies
1995 – CRAIG VENTER Genome
sequence of H. Influenzae
47
1997 – dolly
Scotland’s Roslin Institute (adult cells) Other animals
Fish or Carp – (1963) in vitro fertilization Cat - Carbon copy (2001) and Little Nicky (2004) Cattle – Daisy (1999), Millie and Emma (2001), Pampa (2002), Alpha & Beta (2001) and Fighting Cattle (2007), etc. Deer – Dewey (2003) Dog – Snuppy (controversial) Ferret – 2006 Fruit flies – 2004
Goat – 2000 Gaur – Noah (2001) Horse – Prometea (2003), Paris Texas (2005) Mice – (1987) from embryo – over 12 as of 2002 Mouflon – (2001) first to live past infancy Mule –Idaho Gem, Idaho Star and Utah Pioneer (2003) Pig – Xena, Millie, Billy, Alexis, Carrel and Dotcom (2000) Rabbit – 2003 Rhesus Monkey – Tetra (2000) Wolf and Water Buffalo
48
WHAT NOW?
49
references Brookes, M. Get a grip on History of Genetics Timeline available at genetics. Time Life Books, http://www.accessexcellence.org/AE/AEPC/WWC/1994/geneticstln.php 1998. retrieved on June 20, 2008 Photo credits: “Cytogenetics” at All pictures not found in the www.wikipedia.com mentioned references are Weaver, R. Molecular available from the world Biology. Boston: Mass, wide web using the slide McGraw-Hill. 3rd Edition. title/content as key words 2005 Screen captures from “DNA: Matthews, C et al. The Promise and the Price” Biochemistry. Singapore: by Discovery Channel, Pearson Education Asia Pte MMDiscovery Ltd. 2002. Communications, Inc. 2004