History of Genetics Lec 1 2024 Maharaj - Student Version
History of Genetics Lec 1 2024 Maharaj - Student Version
Dr. Maharaj
PhD Biology
Focal areas: Behaviour, Ecology, Evolution and Systematics
Lecture Hours
Mondays 4:15-6:10 pm Class Zoom Link
Office Hours
Mondays 6:15 – 7:15 pm Class Zoom Link
Or by email appointment
[email protected]
GENETICS AND EVOLUTION
BIO1202
GENETICS & EVOLUTION
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https://www.uog.edu.gy/sites/default/files/documents/Plagiarism%20Policy.pdf
http://psych.colorado.edu/~carey/hgss2/pdfiles/Ch%2001%20History%20of%20Genetics.pdf
Better developed old ideas
Aristotle
http://psych.colorado.edu/~carey/hgss2/pdfiles/Ch%2001%20History%20of%20Genetics.pdf
History of Genetics
• Aristotle extended Hippocrates’ thinking and proposed that the male semen
contained a “vital heat” with the capacity to produce offspring of the same
“form” (i.e., basic structure and capacities) as the parent.
• Aristotle believed that this heat cooked and shaped the menstrual blood
produced by the female, which was the “physical substance” that gave rise
to an offspring.
• The embryo developed not because it already contained the parts of an
adult in miniature form (as some Hippocratics had thought) but because of
the shaping power of the vital heat.
http://dujs.dartmouth.edu/2013/05/genetics-past-present-and-future/#.WmYGY6inE2z
Which bird will survive?
Darwin, however, lacked an
understanding of the genetic basis of
variation and inheritance, a gap that left
his theory open to reasonable criticism
well into the twentieth century.
• By the early part of the twentieth century, it became clear that heredity
and development were dependent on genetic information residing in genes
contained in chromosomes, which were then contributed to each individual
by gametes—the so-called chromosomal theory of inheritance.
• The gap in Darwin’s theory was closed, and Mendel’s research has
continued to serve as the foundation of genetics
Miescher & DNA
In 1866 Ernst Haeckel proposes the idea that hereditary material
resides in the nucleus. However, Miescher experimented on
human pus from infections and isolated a new molecule he called
nuclein because it is from the cell nucleus. Today we know it as
deoxyribonucleic acid (DNA)
• Subunits- Nucleotides
- Ribonucleotides
https://youtu.be/FNynz6Q12Bw
- Deoxyribonucleotides
Later on…
• 1900 Carl Correns, Hugo de Vries and Erich von Tschermak
rediscovered Mendel’s work independently.
• Sutton and Boveri each proposed that genes are carried on chromosomes. They
independently formulated the chromosome theory of inheritance, which states that
inherited traits are controlled by genes residing on chromosomes faithfully
transmitted through gametes, maintaining genetic continuity from generation to
generation.
• It states simply that chromosomes, seen in all dividing cells and pass from one
generation to the next, are the basis for all genetic inheritance and are associated in
paternal-maternal pairings.
https://www.nature.com/scitable/definition/chromosome-theory-of-inheritance-chromosome-theory-chromosome-127
Chromosome theory of inheritance
https://www.bioexplore
r.net/chromosome-
theory-of-
inheritance.html/
Later later on…
Genetics progressed from Mendel to DNA in less
than a century
• 1909 Wilhelm Johannsen while studying seed size in common bean, it becomes
apparent that the outward appearance of the individual and its genetic makeup must
be clearly distinguished. The terms phenotype and genotype and coined for this
purpose. The term gene is also used for the first time.
• 1910 Thomas Hunt Morgan - The first demonstration of sex linkage in Drosophila is
published. This suggests genes reside on chromosomes.
• In 1944, Oswald Avery, Colin MacLeod, and Maclyn McCarty, researchers at the
Rockefeller Institute in New York, published experiments showing that DNA was the
carrier of genetic information in bacteria.
• DNA carries genetic information, along with other research over the next few years,
provided solid proof that DNA, not protein, is the genetic material, setting the stage
for work to establish the structure of DNA.
Soon to be modern day…
Later in the twentieth and early 21st century,
genetics advances were geared toward the
molecular level, and the dawn of the information
age brought about modern genomics science as
it is known today.
Discovery of the Double Helix launched the
Era of Molecular Genetics
Rosalind Franklin - X-ray diffraction images of DNA.- discovered on her own that DNA
has a double helix structure. The Structure of DNA and RNA One of the great
discoveries of the twentieth century was made in 1953 by James Watson and Francis
Crick, who described the structure of DNA through mathematical modelling served to
create a definitive physical model of DNA. DNA is a long, ladder-like macromolecule
that twists to form a double helix Along with Maurice Wilkins, Watson and Crick were
awarded a Nobel Prize in 1962 for their work on the structure of DNA.
The era of recombinant DNA began in the early 1970s, when researchers
discovered that bacterial proteins called restriction endonucleases
• The field of genetic engineering, or modifying the DNA of
organisms, emerged in 1972 when the first altered molecule of
DNA was constructed as “recombinant DNA (rDNA) - molecules
are DNA molecules formed by laboratory methods of genetic recombination
to bring together genetic material from multiple sources,
creating sequences that would not otherwise be found in the genome.” In
the following year, a functioning E.coli bacteriophage cell was
produced using such recombinant DNA .
A timeline showing the development of genetics from Gregor Mendel’s work on pea plants to the current era of
genomics
Modern knowledge of genetics allows for new types of health care
involving genetic engineering, or the alteration of genetic material.
https://www.ndsu.edu/pubweb/~mcclean/plsc411/History-of-Genetics-and-Genomics-narrative-and-overheads.pdf
Genomics, Proteomics, and Bioinformatics
are new and expanding fields
• The use of recombinant DNA technology to create genomic
libraries prompted scientists to consider sequencing all the
clones in a library to derive the nucleotide sequence of an
organism’s genome. This sequence information would be used
to identify each gene in the genome and establish its function.
https://www.genome.gov/genetics-glossary/Epigenetics
https://pmc.ncbi.nlm.nih.gov/articles/PMC3941222/
Genome-wide association
• Advances in genome-wide association studies (GWAS) — which have
used microarray technology for SNP genotyping.
• SNP genotyping is the measurement of genetic variations of single
nucleotide polymorphisms between members of a species.
• GWAS test hundreds of thousands of genetic variants across many
genomes to find those statistically associated with a specific trait or disease.
• GWAS results have a range of applications, such as gaining insight into a
phenotype’s underlying biology, estimating its heritability, calculating
genetic correlations, making clinical risk predictions, informing drug
development programmes and inferring potential causal relationships
between risk factors and health outcomes.
https://www.nature.com/articles/s43586-021-00056-9
a | Data can be collected from study cohorts or
available genetic and phenotypic information can
be used from biobanks or repositories.
Confounders need to be carefully considered and
recruitment strategies must not introduce biases
such as collider bias. b | Genotypic data can be
collected using microarrays to capture common
variants, or next-generation sequencing methods
for whole-genome sequencing (WGS) or whole-
exome sequencing (WES). c | Quality control
includes steps at the wet-laboratory stage, such as
genotype calling and DNA switches, and dry-
laboratory stages on called genotypes, such as
deletion of bad single-nucleotide polymorphisms
(SNPs) and individuals, detection of population
strata in the sample and calculation of principle
components. Figure depicts clustering of individuals
according to genetic substrata. d | Genotypic data
can be phased, and untyped genotypes imputed
using information from matched reference
populations from repositories such as 1000
Genomes Project or TopMed. In this example,
genotypes of SNP1 and SNP3 are imputed based
on the directly assayed genotypes of other
SNPs. e | Genetic association tests are run for each
genetic variant, using an appropriate model (for
example, additive, non-additive, linear or logistic
regression). Confounders are corrected for,
including population strata, and multiple testing
needs to be controlled. Output is inspected for
unusual patterns and summary statistics are
generated. f | Results from multiple smaller cohorts
are combined using standardized statistical
pipelines. g | Results can be replicated using
internal replication or external replication in an
independent cohort. For external replication, the
independent cohort must be ancestrally matched
and not share individuals or family members with
the discovery cohort. h | In silico analysis of
genome-wide association studies (GWAS), using
information from external resources. This can
include in silico fine-mapping, SNP to gene
mapping, gene to function mapping, pathway
analysis, genetic correlation analysis, Mendelian
randomization and polygenic risk prediction. After
GWAS, functional hypotheses can be tested using
experimental techniques such as CRISPR or
https://www.nature.com/articles/s43586-021-00056-9 massively parallel reporter assays, or results can
be validated in a human trait/disease model.
Reprogramming Cells
• The most exciting advances have been in the area of cellular
reprogramming with defined transcription factors.
• Cell reprograming use a step-by-process to change the identity of cells by
returning adult cells to a stem cell-like state, then differentiating them into a
different cell type. Stem cells can become almost any kind of cell in the
body.
• In 2006 Yamanaka and colleagues showed that transient expression of four
transcription factors could reprogramme somatic cells to a pluripotent
embryonic stem (ES) cell-like state.
• Before this discovery, it was evident that the nuclei of differentiated cells
could be reprogrammed when transferred into an oocyte, but the nature of
the reprogramming factors was a mystery.
• The discovery that a few key transcription factors are sufficient to
reprogramme the vertebrate genome has profoundly affected many fields of
biomedical research and the quest for regenerative medicine.
https://iscrm.uw.edu/what-is-cell-
reprogramming/#:~:text=What%20is%20Cell%20Reprogramming%3F,of%20cell%20in%20the%20body.
Model
Organisms
Model genetic
organisms: used
for the study of
basic biological
processes.
https://biology.uiowa.edu/model-organisms
Model Organisms
https://www.researchgate.net/publication/264146124_Model_Systems_in_Radiation_Biology_Implication_for_Preclinical_Study_of_Radiotherapy
Genetics & Society
• As a society, we are grappling with a host of
sensitive genetics-related issues:
• concerns about prenatal testing
• genetic discrimination
• ownership of genes
• access to and safety of gene therapy
• genetic privacy
Mandatory genetic testing as part of premarital
screening for Emiratis from January 2025
• The Ministry of Health and Prevention (MoHAP) in the United Arab Emirates (UAE)
has announced that mandatory genetic testing will be introduced as part of the
premarital screening programme for all Emiratis planning to marry, starting in January
2025.
• The decision, approved by the Emirates Genome Council, aims to safeguard the
health of future generations and ensure long-term wellness for Emirati families.
• The testing will cover 570 genes associated with over 840 medical conditions, helping
couples assess their risk of having children with genetic diseases. The initiative is
part of the National Genome Strategy, which aims to create an integrated national
genetic database to identify genetic diseases among Emiratis and facilitate early
medical intervention.
• “This preventive measure safeguards community members from hereditary diseases
and allows couples to undergo genetic testing to determine if they carry shared
genetic mutations that could be passed on to their offspring, potentially causing
preventable genetic diseases. Common genetic mutations among couples can lead to
conditions such as vision and hearing loss, blood clotting disorders, developmental
delays, organ failure, hormonal imbalances, and severe seizures,” she explained.
https://www.wam.ae/en/article/b625ku2-genetic-testing-mandatory-for-premarital
END OF LECTURE 1