Dr. E. Hannig
BIOL3301_Fall 2013
History of Genetics
4000 years ago, Egyptians practiced animal and plant breeding.essentially
recognizing that desirable traits could be inherited and bred into various plants and
animals.
Year
Scientist(s)
Charles Darwin
1858 Alfred Russel
Wallace
1859 Charles Darwin
1866 Gregor Mendel
Carl Correns
Hugo de Vries
1900
Erich von
Tschermak
1902
1905
1905
1908
1910
1927
1928
1931
Discovery
Joint announcement of the theory of natural selection-that
members of a population who are better adapted to the
environment survive and pass on their traits.
Published The Origin of Species.
Published the results of his investigations of the inheritance of
"factors" in pea plants.
Mendel's principles were independently discovered and
verified, marking the beginning of modern genetics.
George Beadle
Edward Tatum
Oswald Avery
1944 Colin MacLeod
Maclyn McCarty
1941
Irradiated the red bread mold, Neurospora, and proved that the
gene produces its effect by regulating particular enzymes.
Reported that they had purified the transforming principle in
Griffith's experiment and that it was DNA.
1977
1978
1980
1981
1983 James Gusella
1985 Kary B. Mullis
1988
1989
1990
1993
Francis Collins
Lap-Chee Tsui
1997
1998
2000
2003
2005
Next generation DNA sequencing; massively parallel sequencingby-synthesis; multiplex sequencing; four color sequencing-bysynthesis.
2008
2010
1865-Mendel delivered two lectures on his findings to the Natural Science Society
in Brno, who published the results of his studies in their journal the following year, under
the title Experiments on Plant Hybrids. Mendel did little to promote his work, however,
and the few references to his work from that time period indicated that much of it had
been misunderstood. It was generally thought that Mendel had shown only what was
already commonly known at the timethat hybrids eventually revert to their original
form. The importance of variability and its evolutionary implications were largely
overlooked. Furthermore, Mendel's findings were not viewed as being generally
applicable, even by Mendel himself, who surmised that they only applied to certain
species or types of traits.
..vs.
Diversion..The garden pea was Mendels model system. Other model systems for
genetic studies include:
Saccharomyces
cerevisiae
(budding/bakers yeast)
Drosophila melanogaster
(fruit fly)
Zea mays
-In other words, one of the two phenotypes disappeared in the F1 offspring!
-The trait that remained (i.e., the trait expressed in the F1) came to be know
as the Dominant trait
-The trait that disappeared in the F1 generations came to be known as the
Recessive trait.
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Trait
F2
F2 ratio
In each case, selfing the F1 plants (which expressed only the dominant
trait) yielded an F2 generation in which the recessive trait
reappeared.but in a specific 3:1 ratio in all cases!
-therefore, the particular determinant for the recessive trait did not disappear
(or no longer exist) in the F1it just wasnt expressed, perhaps masked
by the presence of the dominant particulate element.
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[How to read the figure above: the F2 column represents the 3:1 ratio of
plants seen in the F2 generation. Following the arrows, each row represents
the F3 obtained by selfing the each of the F2 plants]
Underlying the 3:1 phenotypic ratio in the F2 was a 1:2:1 genotypic ratio
**Refer back to when Mendel was initially establishing lines of plants that were truebreeding for each of the traits he studied.
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The union of male and female gametes in the zygote (offspring) is also a
random process.
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14
15
16
Without knowing about DNA, RNA, Molecular Genetics, etc, Mendel was
able to deduce [based on his studies]:
1. There are 2 hereditary determinants for each trait studied [i.e., each
parent two copies of the determinant for flower color, etc.] [in modern
terms, 1 gene, 2 different alleles]
2. Each gamete contains only one of the two determinants present in
each parent. The probability of either appearing in a gamete is equal
[Mendels First Law, the principle of segregation]
3. The union of male and female gametes in the zygote reunites the
hereditary determinants in pairs. This is also a random process.
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**he was lucky, of course, as this does not apply to linked genes, which do
not assort independently.
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19
20
try doing that with a Punnett square [and finishing the test on time
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While were at it
22
What is a backcross?
What is it used for?
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Backcrosses are used when one desires to introduce a specific trait into
a particular parental genetic background [i.e., I want to introduce a
different allele into a parental background, but I want the resulting
strain to be as identical to a parental genetic background as possible]
Each successive backcross to the original parent [the elite strain in the
above Figure] increases the gene complement of that parent in the resulting
progeny.
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Note: Blue arrows indicated selfing crosses. [Ques: Why a selfing cross?
Why not cross it with the original rr strain from the P generation?]
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RR yy
x
rrYY
(round, green) (wrinkled, yellow)
F1
RrYy
(round, yellow)
F2
Hypothesis: the data above are consistent with a 9:3:3:1 ratio [Assumption:
equal viability of all progenystated as a condition of the analysis below]
Chi square: Probability of observing a deviation from the expected results
at least as large on the basis of chance if the hypothesis.
2 = [(O E)2/E]
For the data above:
Perfect 9:3:3:1 ratio for 556 total progeny is 313:104:104:35
Therefore, 2 = 4/313 + 9/104 + 16/104 + 9/35
= 0.013 + 0.087 + 0.154 + 0.258 = 0.512
Thus, there is a better
than 90% probability of
observing a deviation
from the expected
results at least as large
on the basis of
chanceand we can
accept out hypothesis.
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The garden pea was Mendels model system. As weve already noted, other
model systems for genetic studies include bakers yeast (Saccharomyces
cerevisiae), fruit fly (Drosophila melanogaster), maize (Zea mays)
nematode (Caenorhabditis elegans), and zebrafish (Danio rerio),
BUT.
.what if we need to work in a system where we:
1. Cannot obtain a large number of offspring in each generation
2. The generation time of the investigator approximates the generation
time of the genetic system
3. You cannot make controlled crosses
for example, human genetics!
In those cases, we often must resort to pedigree analysis..retrospective
genetic analysis would be a good description.
Symbols Used in Pedigree Analysis
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Some Examples..
For rare traits, most affected individuals are the children of unaffected parents. For
extremely rare traits, the unaffected parents may be related to each other
The risk of an affected child from mating of two heterozygotes is 25%
Males and females are affected in roughly equal proportions
All children of two affected individuals are affected
Trait often seen to skip generations
Q. Can you determine the genotype for each of the individuals in the pedigree above?
[Note: it may not be possible to infer the exact genotype in each case]
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All affected individuals have at least one affected parent (exception in cases where
gene has high mutation rate..i.e., sudden appearance of an inheritable allele, not
transmitted via either parent)
Males and females affected in roughly equal proportions.
The phenotype is often more severe in affected homozygotes
Two affected individuals will have unaffected offspring if the parents are both
heterozygotes
Trait generally does not skip generations (unless penetrance is reduced)
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Y-linked inheritance
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