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1
study of how genes
and how traits are passed
down from one generation to
the next
Genetics
2
People who study genes
Geneticists
3
sequence of DNA or RNA that codes for a molecule that has a function on the transmission of genes to an organisms offspring in the basis of the inheritance of phenotypic traits.
Gene
4
molecule composed of two chains which coil around each other to form a double helix carrying the genetic instructions used in the growth, development, functioning of all known living organisms
DNA
5
different versions of
genes for each feature
Monogenic trait
- Polygenic trait
6
specify the sequences of
amino acids, which are
the building blocks of
proteins
Exons: protein coding region
7
responsible
for orchestrating nearly
every function of the cell
proteins
8
does not provide
instructions for making
proteins;
Initially though as “junk
introns
9
types of gene transfer
Vertical and Horizontal
10
types of horizontal gene transfer in prokaryotes
conjugation, transformation, transduction
11
horizontal gene transfer in eukaryotes
transfer of fungal genes into insects called aphids, Agrobacterium rhizogenes
and Agrobacterium
tumefaciens are plant
pathogenic bacteria
capable of transferring DNA
fragments (T-DNA)
12
organisms genetic information
genotype
13
set of observable traits
phenotype
14
chart displaying
the chromosome
pairs from largest
to smallest
karyotype
15
Reproduction:
- Sexual reproduction
- Regeneration
- spontaneous generation
Concept of potentiality
Aristotle
16
discovered cells and gave scientists the idea of
preformationism
Robert Hooke
17
1859)
Individual organisms vary in their ability to survive and
reproduce
Darwin’s The
Origin of Species
18
figured out the laws of inheritance at about
the same time that Darwin was working on his book
Gregor Mendel
19
Parental traits are “mixed” in the offspring
Blending Inheritance
20
the adaptive
character trait could be maintained
if those individuals expressing it
were isolated from other members
of the species
isolation
21
recognized that some
traits were “Prepotent” (dominant)
and did not blend or dilute through
the generations
breeders
22
darwin countered 3-5
3. Variation is common
4. Natural selection favors certain variant 5. Environments change – different variants become superior
23
variation according to Gregor Mendel
-Variation is random and unpredictable
- Variation is heritable
- Variation changes in
frequency over the course of time
24
a theory of heredity that states that all parts of an organism contribute to the
next generation. Charles Darwin proposed the theory in ____
Paragenesis 1868
25
provided the Germ Plasm Theory
(1883) as an alternative
August Weismann (1834-1914)
26
genetic information from different parts of the body travels to the reproductive organs where it is transferred to the gametes
Paragenesis concept
27
germ-lime tissue in the reproductive organs contains a complete set of genetic information that is transferred directly to the gametes
Germ-plasm theory
28
transfused blood between
rabbit strains and
demonstrating that the
offspring did not acquire traits
from the strains that donated
the blood
Francis Galton (1822-1911)
29
Publication of results on
the inheritance of factors
in garden peas (1866)
-
developed three
fundamental
principles or laws of
heredity
Pea Study (1856-1859)
30
discovered chromosomes and
mitosis (1880)
Walther Flemming
31
coined the term "eugenics" (1883)
Francis Galton
32
discovered that each species has
a fixed number of chromosomes;
• he also discovered the formation
of haploid cells during cell division
of sperm and ova (meiosis) in
1887
Edouard-Joseph-Louis-Marie
van Beneden (1846-1910)
33
Independently Rediscovered
Mendel’s Work* in 1900
Hugo DeVries, Carl Correns, and
Erich von Tschermak
34
Dutch
botanist who continued
Darwin’s idea of pangenesis
as the particulate units of
inheritance which he
described in his Intracellular
Pangenesis (1889)
Hugo de Vries (1848-1935)
35
form of saltationism
[saltus = leap] circa 1903
Mutation Theory
of Evolution
36
yearWalter S.Sutton noticed relationships of Mendel's factor with chromosome behaviour
1902
37
they explained how gender is determined by special chromosomes
Edmund Beecher Wilson and Nettie Maria Stevens
38
Coined the terms genetics, allele, homozygous, heterozygous
William Bateson
39
Proposed that some human diseases are due to inborn erroe of metabolism that result from the lack of specific enzyme
Archibald Garrod (1908)
40
They independently formulated the Hardy- Weinberg principle of population genetics
Godfrey Hardy and Wilhelm Weinberg
41
For each chromosome contributed by the sperm there is a corresponding chromosome contributed by the egg, there are two chromosomes of each kind, which together constitute a pair
Thomas Hunt Morgan (1910)
42
Morgan made an insightful choice for an
experimental organism _________a fruit fly
species that eats fungi on fruit
Drosophila melanogaster
43
In 1927, Xrays cause artificial gene mutations in Drosophila
Herman J. Muller
44
In 1928: He proposed that some unknown "principle" had transformed the harmless R strain of Diplococcus to the virulent S. strain
Frederick Griffith
45
cytological proof for crossing-over in maize
1931: Barbara McClintock with Harriet B. Creighton
46
They irradiated the red bread mold, Neurospora, and proved that gene produces its effect by regulation particular enzymes
-proposedd the 1-gene-1 enzyme concept
1941-George Well Beadle and Edward Lawrie Tatum
47
Reported that they had purified transforming principle in Griffith's experiment and that it was DNA
1944- Oswald Avery, Colin MacLeod and, Maclyn McCarty
48
Developed the hypothesis of transferrable elements to explain color variations in corn
late 1940's-1950 Barbara McClintock
49
He discovered a one-to-one ratio of A to T and G to C in DNA samples from a variety of organisms
1950- Erwin Chargaff
50
Show by X-ray crystallography that DNA exists as two strands wound together in a spiral or helical shape
1951- Rosalind Franklin and Maurice H.F. Wilkins
51
They used phages in which the protein was labeles with 35s and the DNA with 32P for the final proof that DNA is the molecule of heredity
1952- Martha Chase and Alfred Hershey
52
They developed a three-dimensional model of the structure of DNA based in part on X-ray diffraction photographs taken by Rosalind Franklin
James Watsons & Francis Crick (1953)
53
work of TMV (virus that infects Tobacco)
Heinz Fraenkel-Conrat & Bea Singer (1956)
54
s a single molecule of RNA surrounded by a helically arranged cylinder of protein molecules
Tobacco Mosaic Virus
55
demonstrated that just RNA isolated
from TMV is sufficient to infect tobacco plants and direct the production of
new TMV particles. This finding confirmed that RNA carries genetic
instructions
- Alfred Gierer and Gerhard Schramm
56
They showed that the diploid chromosome number for humans is 46
1956- Joe Hin Tijo and Albert Levan
57
used isotopes of nitrogen to prove the semiconservative replication of DNA
1958- Matthew Meselson and Frank Stahl
58
He purified DNA polymerase I from E. coli, the first enzyme that made DNA in a testube.
-His work on DNA synthesis led to creating recombinant DNA and genetic engineering
1958- Arthur Kornberg
59
Genetic code arranged in triplet
1961-Nirenberg and P. Leder
60
Proves watson central dogma is not always true
1964- Howard Temim
61
Restriction enzyme dicovered
1970- Weener Arber
62
DNA sequence was determined
1977- F. Sanger
63
discovered PCR
1983- Karry B. Mullis
64
Discovered DNA finger printing
1985- Alec Jeffreys
65
Human Genome Sequence
1989- F. Collins and Lap-Chee Tsui
66
Genome of H. influenza was sequenced
1995
67
yeast genome was sequenced
1996
68
round worm genome was sequenced
1998
69
Human Genome was released by human genome project and Celera genomics simultaneously
2001
70
Successful completion of human genome 99% accuracy
2003
71
Sex specific, male line transgeneerational response (epigenetics- heritable changes in gene expression)
Marcus Pembrey and Olov Bygren
72
Importance of Genetics
Albinism (Hopi natives), Phenotypes (height, weight, hair color, skin pigmentation), Susceptibility to diseases and disorders, intelligence and personality
73
Importance of genetics in agriculture
Domestication of Plants and Animals
74
Importance of Genetics in Pharmaceutical Industry
Drugs and food additives
e.g growth hormones, insulin, clotting factors
75
Importance of Genetics in Medicine
Sickle- cell anemia
76
Importance of Genetics in Dev. Bio
Tissues and organs form through the regulated expression of genes
77
Laboratory Study of Genetics 20th century and beyond
E. coli, S. cerevisiae, A. thaliana, M. musculus, D. melanogaster
78
Levels of Genetic Analysis
Classical, Molecular, Population Genetics
79
governs the transfer of heredity
characters from parent to offspring
- this is based on Gregor Mendel’s work
published in 1865-66
Classical Genetics
80
concerned with the structure and
function of genes at the molecular level
- includes the technique of genetic
engineering (direct manipulation of an
organism's genome)
Molecular Genetics
81
the study of genetic variation within and
among populations and the evolutionary
factors that explain this variation
Population Genetics
82
Haploid 23 Chromosomes in human
Germ line (germ cells)
83
Diploid 46 chromosomes (2n) in human
Somatic Cells
84
Fusion of cell membrane & cytoplasm
Plasmogamy
85
Fusion of cell membrane
Karyogamy
86
Has UNLIMITED ability to self-renew
Stem Cells
87
Cells can differentiate into any type of cell, used for Preimplantation Genetic Diagnosis
Stem cells: Totipotent
88
embryonic cells can become anything except a placenta
inner cell mass are used to make embryonic
stem cell lines
Stem cells: Pluripotent
89
Adult’ cells are already committed to a certain
tissue layer
Stem cells: Multipotent
90
Where are embryonic stem cells obtained?
From inner cell mass of blastocysts of: Donated fertilized eggs or donated eggs fertilized by researchers
91
Where are adult stem cells obtained?
adult tissue/ organ
92
How flexible are embryonic stem cells?
Pluripotent
93
How flexible are adult stem cells?
Multipotent
94
synthesis of
proteins and lipids
ER
95
contains lysozyme
lysosome
96
oxidative enzymes (catalase)
peroxisomes
97
has a double
membrane whose inner folds
carry enzymes that catalyze
reactions that extract energy
from nutrients
mitchondrion
98
how many genes does mtDNA contain
37: : 13 instructions for
making enzyme; others provide
instructions for making tRNA
(22) and rRNA (2)
99
can only be observe
during cell division
chromosomes
100
constricted region where spindle fibers attach
centromere
101
centromere is located approximately in the center of the chromosomes and the lenghts of the two arms (p and q) are approximately equal
metacentric chromosomes (1,3,16,19,20)
102
the centromere is located slightly off center of the chromosome and the short arm can be easily distinguised from the long arm, but the short arm is not extremely short
submetacentric (2,4,5,6,7,8,10,11,12,17,18,X)
103
the centromere is close to the end of the chromosome and the short arm is extremely short
Acrocentric (13,14,15,21,22,Y)
104
-Do not stain in Feulgen reaction
-observe usually in acrocentric
chromosomes
Satellite Chromosome
‘Sine-Acido-Thymonucleico’
105
Protects the end of
chromosomes from
becoming frayed or tangled
telomere
106
Grainy
material that DNA forms
when it is not coiled into
chromosomes
Chromatin
107
(two identical copies of
a chromosome)
sister chromatids
108
regions of tightly folded DNA
Chromonema (sing. chromonemata)
109
not dividing
G0
110
creates copies of its
organelles and proteins
G1
111
DNA replication
S
112
final prep; “double
check”
G2
113
: nucleus of the cell divided
MITOSIS
114
create two daughter cells
CYTOKINESIS
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