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Molecular and General Genetics 2014

Biol261/2

The science of genetics is relatively


new.



Modern breeding designs and
molecular capabilities have accelerated
the pace and scope of understanding the
nature of genes and character
expression, promising a biological
revolution



But, the fabric of this revolution is
built using an
,
applies various causal
operating at different levels of
(organismal and
molecular) that are at well integrated
in
.






DEFINITIONS

Genetics is defined as:

(1) The study of genes

(2) The study of inheritance. (Griffiths et al. 9e)

The study of all aspects of genes (Griffiths et al. 10e)

(3) Genetics is the study of heredity and variation
(Lewontin 1974)




Genetics is studied on different natural scales
of organization: molecular, chromosomal,
transmission genetics, population and evolutionary
genetics, genomics.



Consequently, for example, definitions of a gene differ
with the scale and nature of the study.

Classical Genetics Model I involve genes (only) governing the


expression of a character or phenotype: genetic determination - a
set of instructions for turning undifferentiated environmental
materials into making a specific organism, regardless of the
environment.

Genetic
Determinism

Model II: Environmental determinism Expressed DNA


contains the information, but the local environment (internal or
external) determines the actual course of development or the
expression of a character state. For example, gene expression
may be governed by chromosomal tags or intervening sequences,
sex in turtles and crocodiles is determined by egg
development temperature.

Model III: genotype - environment interaction - The course


of development, or phenotype expression depends on the
genes an individual inherits from its parents and the
sequence of specific environments an individual encounters
during development.

Figure 1-18

Genes and the environment both influence
eye size in Drosophila


Our

understanding of Genetics, summarized by the authors of


your text book, pre-eminent geneticist of our generation, is.. Genes
cannot generate or even dictate the structure of an organism by
themselves. The environment (internal or external) has a crucial
ongoing effect and sometimes it is a controlling component of
expression. Ch 1, Griffiths et al 9thedition.



Nonetheless: Many write, talk and act as if genes alone
determine phenotype expression.



In some cases this appears correct, in others this may be a
misleading characterization.

Development variation unrelated to known or controlled allelic or


environmental variation, may produce asymmetrical or highly
variable characters. This developmental noise causes variability
not related to specific environments or genes

Textbooks:


An Introduction to Genetic Analysis


Griffiths et al. 10th edition - required.




Solutions Manual for An Introduction to


Genetic Analysis
-suggested





I clicker - required

WEB Site for Molecular and General Genetics:


https://www.myconcordia.ca

Choose Course websites (Moodle)



Lecture slides

Recommended Problems

Course outline and grading scheme



The text book publisher, W.F. Freeman has a web site

www.whfreeman.com

with study aids including animations.


Mandatory tutorials meet once a week for 2 hr,



beginning next week



A teaching assistant will review the previous weeks

material, discuss illustrative problems, and a week later,

test you and other students on the lecture material.




Each week, a section is covered in 2 lectures,

say section A. The following week, problems related to
section A are solved in tutorial. Student teams of 4-5 will
present the solution to a pivotal selected problem.



In the next week section A will be the subject of the quiz.



Your tutorial grade will be largely based on your quiz marks
and your presentation scores.

The readings in the text and the assigned


problems are in the dates reading and
problems EXCEL file



(Biol 261 Schedule.xls)



For example,

Week 1

ReadCh: 1, 2.0-2.2, 2.4-2.6

PrintCh 2: 15, 18, 28,31,33,34,40,43,50,51,
61,63,64

Grading:



20%
Tutorial

40%
2 Midterm Exams

40%
Final






SECTION 1 : Classic Genetics


Mendelian Genetics 1 gene, 2 alleles

Scientific genetics began


with Gregor Mendel who in
the 1850s used different
pure-breeding strains in a
controlled breeding
experiment to test their mode
of inheritance.



See C. Stern and E.R. Sherwood
The Origin of Genetics a Mendel
Source Book



The laws of inheritance were independently

rediscovered in 1900 by Hugo de Vries,

Carl Correns, and Erich von Tschermak.


Single Gene Inheritance



During Mendel s university education in
botany, breeding and physics, physicists were
interested in the atomic nature of matter.

John Dalton is considered the originator of
modern atomic theory. But Daltons atomic
hypothesis did not specify the size of atoms.

Therefore it was a major landmark when in
1865 Johann Josef Loschmidt measured the
size of the molecules that make up air.

Loschmidt was also from the Czech Republic a
professor of Physics in Vienna inevitably part
of Mendels education.

So it was not surprising that Mendel set out to look
for the atoms of inheritance .

Foundations Experimental Control and Statistics



A) Experimental Control. Start with a
population, any sexual population is
defined by the extent of potentially
interbreeding individuals. In Mendels
case he restricted breeding individuals
to the strains he used within his garden
plot below.

The more control you have over its


ecology, you decrease the influence
of chance effects of the environment
on inheritance and expression.

But, there are always other levels of
chance variation.

B) Statistics One of Mendels
conceptual breakthroughs in dealing
with this variation was his statistical
approach, the larger the sample size
(statistical) , and the more factors
you control (experimental), the
smaller the influence of chance
effects on the experimental
outcome.

Inbred, pure breeding (selfed or bred with


an individual from the same strain),
colored (Purple ish), Psium sativum
Parental line

X

X

Inbred Strain

Second (white) pure breeding,


inbred Parental line

X

Alternative Hypotheses:

(1)Discrete categorical inheritance or

(2) Blending continuous inheritance



Test: crossing inbred white and purple-flowered
pea strains, are colors retained in hybrids,
through several generations or are they lost,
changed or otherwise altered (blended) in
different offspring generations?



Methods: (1) define the character - flower color
(white, purple with no intermediates), then

(2) the breeding design.


Control for differences


in the cross of purebreeding parental
strains



Reciprocal Crosses
Male purple pollen to
white stigma (shown),
and male white pollen
to purple stigma (not
shown).

Discrete or Blending Inheritance ?



Breeding design: Reciprocal Monohybrid Cross

50%

50%

Parentals

first filial generation


(F1)

In the first generation: there was no blending but


there was evidence of possible character loss.

Inbreed or self fertilize the (F1).

Parental Cross

F1: observations?

Interpretation

X

X

F2: observations

Interpretation

Odd fact -the ratio


changed from 50/50 in the
parentals, 100% purple in
the F1 to 3:1 in the F2?


Count

224 white (0.24 total)

705 purple (0.76 total)

(1: 3.15)

225 white, 705 purple or 3:1



F2

Test the particle variation by inbreeding F2


plants


Dominance is an empirical description, an


empirical fact without a specific mechanism.

F2

Inbreed (self)

F3

(pp)

(pP)

(PP)



Dominance hides the frequency of different particles,
gametes or alleles -actually 50% p /50%P

Causality of phenotypic variation in


Mendel s experiment is best described as:
a)Genetic determination
b)Environmental determination
c)Gene-environment interaction
d) Developmental noise

Mendels other hybrid crosses confirm the 3:1 character or


phenotype ratio in inbred dominant and recessive character
crosses

Mendels data demonstrates that genetic facts are


statistical facts. You can not predict a exact phenotype
but in a breeding design you can assign an expected
probability .

MENDELS FIRST LAW: EQUAL SEGREGATION OF ALLELES





Mendels Model

(1) Inherited germinal or pollen particles for each character or
genes may have genes in different states called alleles
(variation)

(2) Individuals have 2 copies of each gene (gene pairs). If the
states of each gene are the same they are called homozygotes
(pp or PP), if alleles are different they are called heterozygotes
(Pp).

(3) Each parental gene segregates randomly into a gamete (sperm
or eggs) or individuals in a pair are segregated into different
gametes.

(4) Parental sex causes gene copies to recombine forming the F1
and F2 offspring, which have allele pairs from both parents.

(5) Individual offspring have two copies of each allele, either one
of which may or may not be dominant (P) or recessive (p).




0.5 white gametes in



breeding population

Punnett Square Model of equal segregation and


random recombination

P: Monohybrid Cross : white (pp) and purple (PP)
0.5 purple gametes in

flowers

breeding population

P

p

F1

The breeding population consists of equal numbers



of white
and
purple parents, hence,

you expect 50% p alleles,
50 % P in the F1

Punnett Square Model


white gametes

breeding population

P: Reciprocal monohybrid cross (pp x PP)



purple gametes in the

breeding population

0.5 P

0.5 p

All Pp
diploid
s

F1 Offspring Expectation based on equal segregation


and random recombination. All heterozygotes

F1 Punnett

Square

Inbreed (heterozygote)
individuals

Pp x Pp

0.5

1/2

0.5

1/2

F2

expected

values

F1 Punnett

Square

Inbreed (heterozygote)
individuals

Pp x Pp

0.5

1/2

F2

0.5

1/2

PP

1/4

Pp

1/4

Pp

1/4

pp

1/4

Terms to define: Monohybrid cross, genes, alleles, allele


frequency, dominance, monohybrid, homozygote,
heterozygote genotype, breeding design, inbreeding and
outbreeding.



Know: genetic models (I-IV);

Mendel 1: the monohybrid cross breeding design, including
the meaning of inbreeding and outbreeding, first and second
filial crosses; Mendels first law -what it means, Punnett
Square.



Monohybrid breeding design - Parentals, expectations F1, F2