HISTORY OF DNA

1859 - CHARLES DARWIN PUBLISHES

THE ORIGIN OF SPECIES

•IN 1859, CHARLES DARWIN PUBLISHED THE ORIGIN

OF SPECIES, CHANGING THE WAY MANY PEOPLE
VIEWED THE WORLD FOREVER.
 
1866 - GREGOR MENDEL DISCOVERS THE BASIC PRINCIPLES OF
GENETICS

• IN 1866, AN UNKNOWN AUGUSTINIAN MONK WAS THE FIRST PERSON TO

SHED LIGHT ON THE WAY IN WHICH CHARACTERISTICS ARE PASSED DOWN
THE GENERATIONS. TODAY, HE IS WIDELY CONSIDERED TO BE THE FATHER OF
GENETICS. HOWEVER, HE ENJOYED NO SUCH NOTORIETY DURING HIS
LIFETIME, WITH HIS DISCOVERIES LARGELY PASSING THE SCIENTIFIC
COMMUNITY BY. IN FACT, HE WAS SO AHEAD OF THE GAME THAT IT TOOK
THREE DECADES FOR HIS PAPER TO BE TAKEN SERIOUSLY.
•HE FOUND THAT WHEN A YELLOW PEA PLANT AND A GREEN PEA PLANT
WERE BRED TOGETHER THEIR OFFSPRING WAS ALWAYS YELLOW.
HOWEVER, IN THE NEXT GENERATION OF PLANTS, THE GREEN PEAS
RETURNED IN A RATIO OF 3:1.

•MENDEL COINED THE TERMS 'RECESSIVE' AND 'DOMINANT' IN RELATION

TO TRAITS, IN ORDER TO EXPLAIN THIS PHENOMENON. SO, IN THE
PREVIOUS EXAMPLE, THE GREEN TRAIT WAS RECESSIVE AND THE
YELLOW TRAIT WAS DOMINANT.
 1869 - FRIEDRICH MIESCHER IDENTIFIES
"NUCLEIN"
• IN 1869, SWISS PHYSIOLOGICAL CHEMIST FRIEDRICH MIESCHER FIRST
IDENTIFIED WHAT HE CALLED "NUCLEIN" IN THE NUCLEI OF HUMAN WHITE
BLOOD CELLS, WHICH WE KNOW TODAY AS DEOXYRIBONUCLEIC ACID (DNA).
 

• MIESCHER'S ORIGINAL PLAN HAD BEEN TO ISOLATE AND CHARACTERIZE THE

PROTEIN COMPONENTS OF WHITE BLOOD CELLS. TO DO THIS, HE HAD MADE
ARRANGEMENTS FOR A LOCAL SURGICAL CLINIC TO SEND HIM PUS-
SATURATED BANDAGES, WHICH HE PLANNED TO WASH OUT BEFORE FILTERING
THE WHITE BLOOD CELLS AND EXTRACTING THEIR VARIOUS PROTEINS.
1900S - THE EUGENICS MOVEMENT
• IN THE HISTORY OF DNA, THE EUGENICS MOVEMENT IS A NOTABLY DARK CHAPTER,
WHICH HIGHLIGHTS THE LACK OF UNDERSTANDING REGARDING THE NEW DISCOVERY
AT THE TIME. THE TERM 'EUGENICS' WAS FIRST USED AROUND 1883 TO REFER TO THE
"SCIENCE" OF HEREDITY AND GOOD BREEDING.
 
• IN 1900, MENDEL'S THEORIES, WHICH HAD FOUND A REGULAR STATISTICAL PATTERN
FOR FEATURES LIKE HEIGHT AND COLOR, WERE REDISCOVERED. IN THE FRENZY OF
RESEARCH THAT FOLLOWED, ONE LINE OF THOUGHT BRANCHED OFF INTO SOCIAL
THEORY AND DEVELOPED INTO EUGENICS.
 1900 – MENDEL'S THEORIES ARE
REDISCOVERED BY RESEARCHERS
• IN 1900, 16 YEARS AFTER HIS DEATH, GREGOR MENDEL'S PEA PLANT RESEARCH
FINALLY MADE ITS WAY INTO THE WIDER SCIENTIFIC COMMUNITY.

• THE DUTCH BOTANIST AND GENETICIST HUGO DE VRIES, GERMAN BOTANIST

AND GENETICIST CARL ERICH CORRENS AND AUSTRIAN BOTANIST ERICH
TSCHERMAK VON SEYSENEGG ALL INDEPENDENTLY REDISCOVERED MENDEL'S
WORK AND REPORTED RESULTS OF HYBRIDIZATION EXPERIMENTS SIMILAR TO
HIS FINDINGS.
1902 - SIR ARCHIBALD EDWARD GARROD
IS THE FIRST TO ASSOCIATE MENDEL'S
THEORIES WITH A HUMAN DISEASE
• IN 1902, SIR ARCHIBALD EDWARD GARROD BECAME THE FIRST PERSON TO
ASSOCIATE MENDEL'S THEORIES WITH A HUMAN DISEASE. GARROD HAD
STUDIED MEDICINE AT OXFORD UNIVERSITY BEFORE FOLLOWING IN HIS
FATHER'S FOOTSTEPS AND BECOMING A PHYSICIAN. 
•WHILE STUDYING THE HUMAN DISORDER ALKAPTONURIA, HE COLLECTED FAMILY HISTORY
INFORMATION FROM HIS PATIENTS. THROUGH DISCUSSIONS WITH MENDELIAN ADVOCATE
WILLIAM BATESON, HE CONCLUDED THAT ALKAPTONURIA WAS A RECESSIVE DISORDER AND, IN
1902, HE PUBLISHED THE INCIDENCE OF ALKAPTONURIA: A STUDY IN CHEMICAL INDIVIDUALITY.
THIS WAS THE FIRST PUBLISHED ACCOUNT OF RECESSIVE INHERITANCE IN HUMANS.

•IT WAS ALSO THE FIRST TIME THAT A GENETIC DISORDER HAD BEEN ATTRIBUTED TO "INBORN
ERRORS OF METABOLISM", WHICH REFERRED TO HIS BELIEF THAT CERTAIN DISEASES WERE THE
RESULT OF ERRORS OR MISSING STEPS IN THE BODY'S CHEMICAL PATHWAYS. THESE
DISCOVERIES WERE SOME OF THE FIRST MILESTONES IN SCIENTISTS DEVELOPING AN
UNDERSTANDING OF THE MOLECULAR BASIS OF INHERITANCE.
1944 - OSWALD AVERY IDENTIFIES DNA
AS THE 'TRANSFORMING PRINCIPLE'
• BY THE 1940S, SCIENTISTS UNDERSTANDING OF THE PRINCIPLES OF INHERITANCE HAD
MOVED ON CONSIDERABLY - GENES WERE KNOWN TO BE THE DISCRETE UNITS OF
HEREDITY, AS WELL AS GENERATING THE ENZYMES WHICH CONTROLLED METABOLIC
FUNCTIONS. HOWEVER, IT WASN'T UNTIL 1944 THAT DEOXYRIBONUCLEIC ACID (DNA)
WAS IDENTIFIED AS THE 'TRANSFORMING PRINCIPLE'.
• THE MAN WHO MADE THE BREAKTHROUGH WAS OSWALD AVERY, AN
IMMUNOCHEMIST AT THE HOSPITAL OF THE ROCKEFELLER INSTITUTE FOR
MEDICAL RESEARCH. AVERY HAD WORKED FOR MANY YEARS WITH THE
BACTERIUM RESPONSIBLE FOR PNEUMONIA, PNEUMOCOCCUS, AND HAD
DISCOVERED THAT IF A LIVE BUT HARMLESS FORM OF PNEUMOCOCCUS WAS
MIXED WITH AN INERT BUT LETHAL FORM, THE HARMLESS BACTERIA WOULD
SOON BECOME DEADLY.
1950 - ERWIN CHARGAFF DISCOVERS THAT DNA COMPOSITION IS SPECIES
SPECIFIC

• IN 1944, SCIENTIST ERWIN CHARGAFF HAD READ OSWALD AVERY'S SCIENTIFIC

PAPER, WHICH IDENTIFIED DNA AS THE SUBSTANCE RESPONSIBLE FOR HEREDITY.
THE PAPER HAD A HUGE IMPACT ON CHARGAFF AND CHANGED THE FUTURE
COURSE OF HIS CAREER. HE LATER RECOLLECTED, “AVERY GAVE US THE FIRST
TEXT OF A NEW LANGUAGE, OR RATHER HE SHOWED US WHERE TO LOOK FOR IT. I
RESOLVED TO SEARCH FOR THIS TEXT. CONSEQUENTLY, I DECIDED TO RELINQUISH
ALL THAT WE HAD BEEN WORKING ON OR TO BRING IT TO A QUICK CONCLUSION”.
1952 - ROSALIND FRANKLIN PHOTOGRAPHS CRYSTALLIZED DNA FIBRES

• ROSALIND FRANKLIN WAS BORN IN LONDON IN 1920 AND CONDUCTED A LARGE

PORTION OF THE RESEARCH WHICH EVENTUALLY LED TO THE UNDERSTANDING
OF THE STRUCTURE OF DNA - A MAJOR ACHIEVEMENT AT A TIME WHEN ONLY MEN
WERE ALLOWED IN SOME UNIVERSITIES' DINING ROOMS. 
• AFTER ACHIEVING A DOCTORATE IN PHYSICAL CHEMISTRY FROM CAMBRIDGE
UNIVERSITY IN 1945, SHE SPENT THREE YEARS AT THE LABORATOIRE CENTRAL
DES SERVICES CHIMIQUES DE L'ETAT IN PARIS, LEARNING THE X-RAY
DIFFRACTION TECHNIQUES THAT WOULD MAKE HER NAME. THEN, IN 1951, SHE
RETURNED TO LONDON TO WORK AS A RESEARCH ASSOCIATE IN JOHN
RANDALL'S LABORATORY AT KING'S COLLEGE.
•FRANKLIN'S PHOTOGRAPHS WERE DESCRIBED AS, "THE MOST BEAUTIFUL X-RAY
PHOTOGRAPHS OF ANY SUBSTANCE EVER TAKEN" BY J. D. BERNAL, AND BETWEEN
1951 AND 1953 HER RESEARCH CAME CLOSE TO DISCOVERING THE STRUCTURE
OF DNA. UNFORTUNATELY, SHE WAS ULTIMATELY BEATEN TO THE POST BY
THOMAS WATSON AND FRANCES CRICK
•THE ABOVE IMAGE SHOWS THE ORIGINAL SAMPLES OF DNA WHICH WERE GIVEN
TO MAURICE WILKINS BY SWISS BIOCHEMIST RUDOLF SIGNER. PHD STUDENT
RAYMOND GOSLING THEN USED THE SAMPLES TO PRODUCE THE FIRST CRYSTALS
OF DNA AND, WITH ROSALIND FRANKLIN, USED THEM FOR THE NEXT GENERATION
OF X-RAY IMAGES.
1953 - JAMES WATSON AND FRANCIS CRICK DISCOVER THE
DOUBLE HELIX STRUCTURE OF DNA

• IN 1951, JAMES WATSON VISITED CAMBRIDGE UNIVERSITYAND HAPPENED TO MEET

FRANCIS CRICK. DESPITE AN AGE DIFFERENCE OF 12 YEARS, THE PAIR IMMEDIATELY HIT
IT OFF AND WATSON REMAINED AT THE UNIVERSITY TO STUDY THE STRUCTURE OF DNA
AT CAVENDISH LABORATORY.
• USING AVAILABLE X-RAY DATA AND MODEL BUILDING, THEY WERE ABLE TO SOLVE THE
PUZZLE THAT HAD BAFFLED SCIENTISTS FOR DECADES. THEY PUBLISHED THE NOW-
FAMOUS PAPER IN NATURE IN APRIL, 1953 AND IN 1962 THEY WERE AWARDED THE
NOBEL PRIZE FOR PHYSIOLOGY OR MEDICINE ALONG WITH MAURICE WILKINS.

• DESPITE THE FACT THAT HER PHOTOGRAPHS HAD BEEN CRITICAL TO WATSON AND
CRICK'S SOLUTION, ROSALIND FRANKLIN WAS NOT HONORED, AS ONLY THREE
SCIENTISTS COULD SHARE THE PRIZE. SHE DIED IN 1958, AFTER A SHORT BATTLE WITH
CANCER. 
 1953 - GEORGE GAMOW AND THE “RNA TIE CLUB”

• FOLLOWING WATSON AND CRICK'S DISCOVERY, SCIENTISTS ENTERED A PERIOD OF FRENZY, IN

WHICH THEY RUSHED TO BE THE FIRST TO DECIPHER THE GENETIC CODE. THEORETICAL
PHYSICIST AND ASTRONOMER GEORGE GAMOW DECIDED TO MAKE THE RACE MORE
INTERESTING - HE CREATED AN EXCLUSIVE CLUB KNOWN AS THE “RNA TIE CLUB”, IN WHICH EACH
MEMBER WOULD PUT FORWARD THEIR IDEAS ABOUT HOW NUCLEOTIDE BASES WERE
TRANSFORMED INTO PROTEINS BY THE BODY'S CELLS.
• HE HANDPICKED 20 MEMBERS - ONE FOR EACH AMINO ACID - AND THEY EACH
WORE A TIE CARRYING THE SYMBOL OF THEIR ALLOCATED AMINO ACID.
IRONICALLY, THE MAN WHO WAS TO DISCOVER THE GENETIC CODE, MARSHALL
NIRENBERG, WAS NOT A MEMBER.
1959 - AN ADDITIONAL COPY OF CHROMOSOME 21 LINKED TO DOWN'S SYNDROME

• TODAY, SCIENTISTS ROUTINELY USE OUR GROWING UNDERSTANDING OF GENETICS FOR

DISEASE DIAGNOSIS AND PROGNOSIS. HOWEVER, IT TOOK DECADES FOR CYTOGENETICS (THE
STUDY OF CHROMOSOMES) TO BE RECOGNISED AS A MEDICAL DISCIPLINE.
• CYTOGENETICS FIRST HAD A MAJOR IMPACT ON DISEASE DIAGNOSIS IN 1959, WHEN AN ADDITIONAL COPY OF
CHROMOSOME 21 WAS LINKED TO DOWN'S SYNDROME. IN THE LATE 1960S AND EARLY 70S, STAINS SUCH AS
GIEMSA WERE INTRODUCED, WHICH BIND TO CHROMOSOMES IN A NON-UNIFORM FASHION, CREATING BANDS
OF LIGHT AND DARK AREAS. THE INVENTION TRANSFORMED THE DISCIPLINE, MAKING IT POSSIBLE TO IDENTIFY
INDIVIDUAL CHROMOSOMES, AS WELL AS SECTIONS WITHIN CHROMOSOMES, AND FORMED THE BASIS OF
EARLY CLINICAL GENETIC DIAGNOSIS.
1965 - MARSHALL NIRENBERG IS THE FIRST PERSON TO SEQUENCE THE BASES IN
EACH CODON

•IN 1957, MARSHALL NIRENBERG ARRIVED AT THE NATIONAL

INSTITUTE OF HEALTH AS A POSTDOCTORAL FELLOW IN DR.
DEWITT STETTEN, JR.'S LABORATORY. HE DECIDED TO
FOCUS HIS RESEARCH ON NUCLEIC ACIDS AND PROTEIN
SYNTHESIS IN THE HOPE OF CRACKING 'LIFE'S CODE'.
1977 - FREDERICK SANGER DEVELOPS RAPID DNA SEQUENCING TECHNIQUES

•BY THE EARLY 1970S, MOLECULAR BIOLOGISTS HAD MADE

INCREDIBLE ADVANCES. THEY COULD NOW DECIPHER THE
GENETIC CODE AND SPELL OUT THE SEQUENCE OF AMINO
ACIDS IN PROTEINS. HOWEVER, FURTHER DEVELOPMENTS IN
THE FIELD WERE BEING HELD BACK BY THE INABILITY TO
EASILY READ THE PRECISE NUCLEOTIDE SEQUENCES OF DNA.
 1983 - HUNTINGTON'S DISEASE IS THE FIRST MAPPED GENETIC DISEASE

•IN 1983, A GENETIC MARKER LINKED TO HD WAS

FOUND ON CHROMOSOME 4, MAKING IT THE FIRST
GENETIC DISEASE TO BE MAPPED USING DNA
POLYMORPHISMS. HOWEVER, THE GENE WAS NOT
FINALLY ISOLATED UNTIL 1993.
1990
•THE FIRST GENE FOUND TO BE ASSOCIATED
WITH INCREASED SUSCEPTIBILITY TO FAMILIAL
BREAST AND OVARIAN CANCER IS IDENTIFIED
•THE HUMAN GENOME PROJECT BEGINS
 1998

• THE NATIONAL RESEARCH COUNCIL RECOMMENDED A

PROGRAM TO MAP THE HUMAN GENOME. THE HUMAN GENOME
PROJECT OFFICIALLY STARTED IN 1990, WITH THE U.S.
DEPARTMENT OF ENERGY (DOE) AND THE NATIONAL
INSTITUTES OF HEALTH (NIH) PUBLISHING A PLAN FOR THE
FIRST FIVE YEARS OF THE ANTICIPATED 15 YEAR PROJECT.
1995 - HAEMOPHILUS INFLUENZAE IS THE FIRST BACTERIUM GENOME
SEQUENCED

•IN 1995, TO DEMONSTRATE THE NEW STRATEGY OF

"SHOTGUN" SEQUENCING, J. CRAIG VENTER AND
COLLEAGUES PUBLISHED THE FIRST COMPLETELY
SEQUENCED GENOME OF A SELF-REPLICATING, FREE-
LIVING ORGANISM - HAEMOPHILUS INFLUENZAE.
  
1996 - DOLLY THE SHEEP IS CLONED

•THE WORLD FAMOUS DOLLY THE SHEEP WAS THE FIRST

MAMMAL TO BE CLONED FROM AN ADULT CELL. THE FEAT WAS
GROUND-BREAKING - WHILST ANIMALS SUCH AS COWS HAD
PREVIOUSLY BEEN CLONED FROM EMBRYO CELLS, DOLLY
DEMONSTRATED THAT EVEN WHEN DNA HAD SPECIALISED, IT
COULD STILL BE USED TO CREATE AN ENTIRE ORGANISM.
1996 - 'BERMUDA PRINCIPLES' ESTABLISHED

•IN 1996, THE LEADERS OF THE HUMAN GENOME

PROJECT MET IN BERMUDA AND AGREED THAT
GENOME SEQUENCE DATA SHOULD BE MADE
FREELY AVAILABLE IN THE PUBLIC DOMAIN WITHIN
24 HOURS OF GENERATION.
1999 - FIRST HUMAN CHROMOSOME IS DECODED

•IN 1999, AN INTERNATIONAL TEAM OF RESEARCHERS REACHED A

MAJOR MILESTONE WHEN THEY UNRAVELED FOR THE FIRST TIME
THE FULL GENETIC CODE OF A HUMAN CHROMOSOME. THE
CHROMOSOME IN QUESTION WAS CHROMOSOME 22, WHICH
CONTAINED 33.5 MILLION "LETTERS," OR CHEMICAL COMPONENTS.
2000 – GENETIC CODE OF THE FRUIT FLY IS DECODED
 

•IN MARCH 2000, SCIENTISTS FROM A NUMBER OF

LABORATORIES SUCCESSFULLY DECODED THE GENETIC
MAKEUP OF THE FRUIT FLY. THE COLLABORATIVE EFFORT HAD
MAJOR IMPLICATIONS FOR THE SEQUENCING OF THE HUMAN
GENOME, AS FLY CELL BIOLOGY AND DEVELOPMENT HAS
MUCH IN COMMON WITH MAMMALS.
 2002 – MOUSE IS THE FIRST MAMMAL TO HAVE ITS GENOME DECODED

•IN 2002, SCIENTISTS TOOK THEIR NEXT BIG STEP

ANDDECODED THE GENOME OF THE FIRST MAMMAL –
THE MOUSE. THE ACHIEVEMENT ALLOWED THEM TO
COMPARE, FOR THE FIRST TIME, THE HUMAN
GENOME WITH THAT OF ANOTHER MAMMAL.
 2003 – THE HUMAN GENOME PROJECT IS COMPLETED

• SCIENTISTS HAD ACHIEVED A HIGH-QUALITY SEQUENCE OF THE ENTIRE HUMAN GENOME. IN 2001, THE HUMAN
GENOME PROJECT HAD PUBLISHED A 'ROUGH DRAFT' OF THE HUMAN GENOME, WHICH INCLUDED A 90% SEQUENCE
OF ALL THREE BILLION BASE PAIRS.

• FOLLOWING THIS, SCIENTISTS PURSUED THE SECOND STAGE OF THE PROJECT – THE FINISHING PHASE. DURING
THIS TIME, RESEARCHERS FILLED IN THE GAPS AND RESOLVED DNA FEATURES IN AMBIGUOUS AREAS UNTIL THEY
HAD COMPLETED 99% OF THE HUMAN GENOME IN FINAL FORM.

• THIS FINAL FORM CONTAINS 2.85 BILLION NUCLEOTIDES, WITH A PREDICTED ERROR RATE OF JUST 1 EVENT IN
EVERY 100,000 BASES SEQUENCED. SURPRISES INCLUDED THE RELATIVELY SMALL NUMBER OF PROTEIN-
ENCODING GENES (BETWEEN 20,000 AND 25,000) AND THAT THERE WERE SIMILAR GENES WITH THE SAME
FUNCTIONS PRESENT IN DIFFERENT SPECIES.
2013 – DNA WORLDWIDE AND EUROFINS
FORENSIC DISCOVER IDENTICAL TWINS HAVE
DIFFERENCES IN THEIR GENETIC MAKEUP

• IN 2013, DNA WORLDWIDE AND THEIR LABORATORY PARTNERS EUROFINS FORENSIC WERE
THE FIRST IN THE WORLD TO PROVE THAT TWINS HAVE DIFFERENCES IN THEIR GENETIC MAKE-
UP.

• BEFORE THIS DISCOVERY, IT WAS BELIEVED THAT MONOZYGOTIC TWINS ARE 100%
GENETICALLY IDENTICAL, AND THAT DNA TESTING COULD NOT BE USED IN CRIMINAL OR
PATERNITY CASES INVOLVING IDENTICAL TWINS, AS IT WAS IMPOSSIBLE TO TELL THEM
APART.
 2014 – FURTHER BREAKTHROUGHS

• THROUGHOUT 2014 THE WORLD'S SCIENTISTS HAVE CONTINUED TO DEVELOP THEIR UNDERSTANDING
OF DNA. RESEARCHERS ANNOUNCED IN MAY THAT THEY HAD SUCCESSFULLY CREATED AN ORGANISM
WITH AN EXPANDED ARTIFICIAL GENETIC CODE. THIS SUCCESS COULD EVENTUALLY LEAD TO THE
CREATION OF ORGANISMS THAT CAN PRODUCE MEDICINES OR INDUSTRIAL PRODUCTS ORGANICALLY.
•  GENETICISTS HAVE ALSO MADE PROGRESS IN THE BREAKTHROUGH FIELD OF EPIGENETICS (THE
STUDY OF CHANGES IN ORGANISMS CAUSED BY ALTERED GENE EXPRESSION). BY STUDYING PAIRS OF
IDENTICAL TWINS, RESEARCHERS IN SWEDEN HAVE FOUND THAT CHANGES IN THE EXPRESSION OF
GENES INVOLVED IN INFLAMMATION, FAT AND GLUCOSE METABOLISM COULD BE BEHIND THE
DEVELOPMENT OF TYPE 2 DIABETES.
END OF THE TOPIC
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