Title: Nerve activates contraction
1MENDEL AND THE GENE IDEA
2Introduction
1. Mendel brought an experimental and
quantitative approach to genetics 2. By the law
of segregation, the two alleles for a character
are packaged into separate gametes 3. By the law
of independent assortment, each pair of alleles
segregates into gametes independently 4.
Mendelian inheritance reflects rules of
probability 5. Mendel discovered the particulate
behavior of genes
3Introduction
- The current theory for the mechanism for the
transmission of genetic material was the
blending hypothesis. - This hypothesis proposes that the genetic
material contributed by each parent mixes in a
manner analogous to the way blue and yellow
paints blend to make green.
- Mendel proposed an alternative model,
particulate inheritance - This proposes that parents pass on discrete
heritable units - genes - that retain their
separate identities in offspring. - Genes can be sorted and passed on, generation
after generation, in undiluted form.
4- Blending Hypothesis 1800s -suggested that
traits of parents mix to form intermediate traits
in offspring. - Parents Offspring
- Red flower x White flower Pink flower
- Tall height x Short height Medium height
- Blue bird x Yellow bird Green birds
- Fair skin x dark skin Medium skin color
- If blending always occurred, eventually all
extreme characteristics would disappear from the
population.
5- Modern genetics began in an abbey garden, where a
monk names Gregor Mendel documented mechanisms of
inheritance.
Gregor Mendel Established genetics as a science
in 1860s. Considered the founder of modern
genetics.
1857
6mendel
- Mendel grew up on a small farm in what is today
the Czech Republic. - In 1843- entered monastery.
- He studied at the University of Vienna from 1851
to 1853. - The monks at this monastery had a long tradition
of interest in the breeding of plants, including
peas. - Around 1857, Mendel began breeding garden peas to
study inheritance.
7(No Transcript)
8- Pea plants have several advantages for genetics.
- Pea plants are available in many varieties with
distinct heritable features (characters) with
different variants (traits). - Short generation time, little space needed, cross
or self fertilize
9Overview of Mendels experiments. -Mendel looked
at 7 traits-
10- Cross fertilization and self fertilization
11- He took a true breeding purple flower plant and
crossed it with a true breeding white flower
plant. - He called these the parent generation (P
generation) - What do you think the offspring looked like?
Pollen
hybridize
X
ALL PURPLE
12Allowed to self-pollinate
F1
SAY WHAT???????
F2
13Mendel concluded
- Something is being passed from parent to
offspring. - He called these Factors
- Sometimes you can see it and sometimes you
cant see it. - If you can see it- it is dominant.(T)
- If its there and you cant see it- its
recessive.(t)
Purple flower is a dominant trait and white
flower is a recessive trait.
14- Each Version of the factor, now known as gene, is
called an Allele.
15Mendel developed a hypothesis to explain these
results that consisted of four related ideas.
- 1. Alternative versions of genes (different
alleles) account for variations in inherited
characters. - Different alleles vary somewhat in the sequence
of nucleotides at the specific locus of a gene
2. For each character, an organism
inherits two alleles, one from each
parent.
- 3. If two alleles differ, then
one, the dominant allele, is
fully expressed in the organisms
appearance. - The other, the recessive allele,
has no noticeable effect on the
organisms appearance.
16- 4. The two alleles for each character segregate
(separate) during gamete production (meiosis).
17- Mendels quantitative analysis of F2 plants
revealed the two fundamental principles of
heredity the law of
segregation the law of independent assortment.
18Law of segregation- the two alleles for a
character are packaged into separate gametes
- If the blending model were correct, the F1
hybrids from a cross between purple-flowered and
white-flowered pea plants would have pale purple
flowers. - Instead, the F1 hybrids all have purple flowers,
just as purple as the purple-flowered parents.
19Law of segregation- the two alleles for a
character are packaged into separate gametes
- The white trait, absent in the F1, reappeared in
the F2. - Based on a large sample size, Mendel recorded in
the F2 plants - 705 purple-flowered
- 224 white-flowered
- 31 ratio (phenotype)
The reappearance of white-flowered plants in the
F2 generation indicated that the heritable factor
for the white trait was not diluted or blended
by coexisting with the purple-flower factor in F1
hybrids.
20Law of segregation-the two alleles for a
character are packaged into separate gametes
This segregation of alleles corresponds to the
distribution of homologous chromosomes to
different gametes in meiosis.
packaged into separate gametes
21USING THE Law of segregation..
- A Punnett square predicts the results of a
genetic cross between individuals of known
genotype. - Two heterozygotes -
- 31 ratio of dominant recessive phenotypes
- 131 genotypes
- PRACTICE
- DRAGON Genetics
- 1 2
- Genetics Practice 8,17
22- When crossing two pure breeding plants, Mendel
found similar 3 to 1 ratios among F2 offspring
when he conducted crosses for six other
characters, each represented by two different
varieties.
23- Predicting the genotype of an organism with the
dominant phenotype - The organism must have at least one dominant
allele, but it could be homozygous dominant or
heterozygous.
whats the genotype?????
A testcross, breeding a homozygous recessive
with dominant phenotype, but unknown geneotype,
can determine the identity of the unknown allele.
24The law of independent assortment- each pair of
alleles segregates into gametes independently
- Alleles that are not on the same chromosome
- Ex. The alleles for height segregate
independently from the alleles of a gene for
color. - AS long as the genes are on separate chromosomes,
the separation during meiosis is RANDOM.
25The law of independent assortment- each pair of
alleles segregates into gametes independently
-During meiosis, the chromosomes line up randomly
during metaphase II. -So, depending on how they
line, this determines the alleles in each gamete.
26The law of independent assortment- each pair of
alleles segregates into gametes independently
- Mendels experiments that followed the
inheritance of flower color or other characters
focused on only a single character via monohybrid
crosses. - He conducted other experiments in which he
followed the inheritance of two different
characters, a dihybrid cross.
animation
27- If no independent assortment
- The F2 offspring (in dihybrid)
would only produce two phenotypes
in a 31 ratio, just like a monohybrid cross. - This was not consistentwith Mendels results.
animation
28- Mendel crossed true-breeding plants that had
yellow, round seeds (YYRR) with true-breeding
plants that has green, wrinkled seeds (yyrr). - When sperm with four classes of alleles and ova
with four classes of alleles combined, there
would be 16 equally probable waysin which the
alleles can combine in the F2 generation.
29- These combinations produce four distinct
phenotypes in a 9331 ratio. - This was consistent with Mendels results.
30Black-BBrown-bLong hair-SShort-s
- Cross two purebred guinea pigs. Brown-long
hair x Black-short hair - Give phenotype and genotype ratios.
31Mendelian inheritance reflects rules of
probability
- Mendels laws reflect the laws of probability.
- The probability scale ranged from zero (an event
with no chance of occurring) to one (an event
that is certain to occur). - The probability of tossing heads with a normal
coin is ½. - The probability of rolling a 3 with a six-sided
die is 1/6, and the probability of rolling any
other number is 1 - 1/6 5/6.
32- When tossing a coin, the outcome of one toss has
no impact on the outcome of the next toss. - Each toss is an independent event, just like the
distribution of alleles into gametes. - Like a coin toss, each ovumfrom a heterozygous
parent has a ½ chance of carrying the dominant
allele and a ½chance of carrying the recessive
allele. - The same odds apply to the sperm.
33- Rule of multiplication to determine the chance
that two or more independent events will occur
together in some specific combination. - Compute the probability of each independent
event. - Multiply the individual probabilities.
- The probability that two coins tossed at the same
time will land heads up is - ½ x ½ ¼.
- Similarly, the probability that two heterozygous
pea plants (Pp) will produce a white-flowered
offspring (pp) depends on an ovum with a white
allele mating with a sperm with a white allele. - ½ x ½ ¼.
34- Rule of multiplication also applies to dihybrid
crosses. - For a heterozygous parent (YyRr) the probability
of producing a YR gamete is ½ x ½ ¼. - We can use this to predict the probability of a
particular F2 genotype without constructing a
16-part Punnett square.
- The probability that an F2 plant will have a YYRR
genotype from heterozygous parents is - 1/16 (¼ chance for a YR ovum and ¼ chance for a
YR sperm).
35- Examples
- An organism had three independently assorting
traits AaBbCc. What fraction of its gamete will
contain ABC? - 1/8
- What about an organism with AABcCc? What fraction
of its gamete will contain ABC? - 1/4
36Rule of addition When more than one arrangement
of the events producing the specified outcome is
possible, the individual probabilities are added.
- determine the probability of an offspring having
two recessive phenotypes for at least two of
three traits resulting from a trihybrid cross
between pea plants that are PpYyRr and Ppyyrr. - There are five possible genotypes that fulfill
this condition ppyyRr, ppYyrr, Ppyyrr, PPyyrr,
and ppyyrr. - Determine probability of each and then add
together.
37- For ppYyrr 1/4 1/2 1/2 1/16.
- For Ppyyrr 1/2 1/2 1/2 1/8 or 2/16.
- For PPyyrr 1/4 1/2 1/2 1/16.
- For ppyyrr 1/4 1/2 1/2 1/16.
- Therefore, the chance that a given offspring will
have at least two recessive traits is 1/16 2/16
1/16 1/16 6/16.
38REVIEW
39THE CHROMOSOMAL BASIS OF INHERITANCE
1.Morgan traced a gene to a specific
chromosome 2. Linked genes tend to be inherited
together because they are located on the same
chromosome 3. Independent assortment of
chromosomes and crossing over produce genetic
recombinants 4. Geneticists use recombination
data to map a chromosomes genetic loci
40Introduction
- It was not until 1900 that biology finally caught
up with Gregor Mendel. - Mendels hereditary factors are the genes located
on chromosomes.
41Mendelian inheritance has its physical basis in
the behavior of chromosomes during sexual life
cycles
- Around 1900, cytologists and geneticists began to
see parallels between the behavior of chromosomes
and the behavior of Mendels factors.
Around 1902, Walter Sutton, Theodor Boveri, and
others noted these parallels and a chromosome
theory of inheritance began to take form.
42- CHROMOSOMAL THEORY OF INHERITANCE
- Chromosomes are carriers of traits and each
chromosome could carry the genes for MANY traits. - Alternate forms or ALLELES of a gene are located
on matched pairs of chromosomes. - When chromosome pairs separate in meiosis, each
chromosome carries its set of alleles to a
gamete. - Genes of the same chromosome move together
Genes on different chromosomes assort
independently.
43Morgan traced a gene to a specific chromosome
- He was the first to associate
a specific
gene with a specific
chromosome. - Worked with Drosophila
melanogaster - Prolific breeders have a
generation time of two
weeks. - 3 pairs of autosomes and a pair of
sex chromosomes
- Produces about 100 offspring per egg lay good
statistics! - Easy/inexpensive to raise
- Chromosomes are VERY large and easy to see and
locate - Sexes are easily distinguished
- --female is larger
- --shapes of abdomen identify sexes at a glance
44- Morgan spent a year looking for variant
individuals among the flies he was breeding. - He discovered a single male fly with white eyes
instead of the usual red. - The normal phenotype is the wild type.
- Alternative traits mutant phenotypes.
45Morgans Experiments Findings
- When Morgan crossed his white-eyed male with a
red-eyed female, all the F1 offspring had red
eyes, - The red allele appeared dominant to the white
allele. - Crosses between the F1 offspring produced the
classic 31 phenotypic ratio in the F2 offspring. - Surprisingly, the white-eyed trait appeared only
in males. - All the females and half the males had red eyes.
- Morgan concluded that a flys eye color was
linked to its sex.
46- Morgan deduced that the gene with the white-eyed
mutation is on the X chromosome, a sex-linked
gene.
- Females (XX) may have two red-eyed alleles and
have red eyes or may be heterozygous and have red
eyes. - Males (XY) have only a single allele and will be
red eyed if they have a red-eyed allele or
white-eyed if they have a white-eyed allele.
47Sex-linked
48Sex-linked Genes
Sex Chromosomes
1.Sex-linked genes have unique patterns of
inheritance 2.The chromosomal basis of sex varies
with the organism
49Sex-linked Genes
- In addition to their role in determining sex, the
sex chromosomes, especially the X chromosome,
have genes for many characters unrelated to sex. - Males are hemizygous for the X chromosome (XY)
Karyotype
50Sex-linked Genes
- If a sex-linked trait is due to a recessive
allele, a female will have this phenotype only if
homozygous. - Heterozygous females will be carriers.
- Because males have only one X chromosome
(hemizygous), any male receiving the recessive
allele from his mother will express the trait. - The chance of a female inheriting a double dose
of the mutant allele is much less than the chance
of a male inheriting a single dose. - Therefore, males are far more likely to inherit
sex-linked recessive disorders than are females.
51Sex-linked Genes
- Hemophilia Colorblindness are all on
the X-chromosome - Several serious human disorders are sex-linked.
- Duchenne muscular dystrophy affects one in 3,500
males born in the United States. - Affected individuals rarely live past their early
20s.
- due to the absence of an X-linked gene for a key
muscle protein, called dystrophin. - a progressive weakening of the muscles and a loss
of coordination.
52Sex-linked Genes-Barr body
- Although female mammals inherit two X
chromosomes, only one X chromosome is active. - Therefore, males and females have the same
effective dose (one copy ) of genes on the X
chromosome. - During female development, one X chromosome per
cell condenses into a compact object, a Barr
body. - This inactivates most of its genes.
- Barr body occurs randomly and independently
- If a female is heterozygous for a sex-linked
trait, approximately half her cells will express
one allele and the other half will express the
other allele. - The condensed Barr body chromosome is reactivated
in ovarian cells that produce ova. - In humans, this mosaic pattern is evident in
women who are heterozygous for a X-linked
mutation that prevents the development of sweat
glands. - Hypohidrotic ectodermal dysplasia
- A heterozygous woman will have patches of normal
skin and skin patches lacking sweat glands.
Animation
53- Cool example the orange and black pattern on
tortoiseshell cats is due to patches of cells
expressing an orange allele while others have a
nonorange allele.
54- In human and other mammals, there are two
varieties of sex chromosomes, X and Y. - XX female. XY male.
- This X-Y system of mammals is not the only
chromosomal mechanism of determining sex. - Other options include
- X-0 system (Grasshoppers, roaches, and other
insects) - Z-W system (Birds, insects like butterflies,
frogs and some species of fish) - the haploid-diploid system.
55- In humans, the anatomical signs of sex first
appear when the embryo is about two months old.
- In individuals with the SRY gene (sex-determining
region of the Y chromosome), the generic
embryonic gonads are modified into testes. - In individuals lacking the SRY gene, the generic
embryonic gonads develop into ovaries.
56Multiple Alleles
57Multiple Alleles - genes that exist in more two
allelic forms
Multiple Alleles
58 59Linked Genes
60Linked genes tend to be inherited together
because they are located on the same chromosome
- Chromosome have 100s or
1000s of genes. - Genes located on the same chromosome
are called linked genes - tend to be inherited together
because the chromosome is
passed along as a unit. - Results of crosses with linked genes deviate from
those expected according to independent
assortment.
61- Morgan observed this linkage (and its deviations)
when he followed the inheritance of characters
for body color and wing size. - The wild-type body color is gray (b) and the
mutant black (b). - The wild-type wing size is normal (vg) and the
mutant has vestigial wings (vg). - Morgan crossed F1 heterozygous females (bbvgvg)
with homozygous recessive males (bbvgvg). - (according to Mendelian genetics, what genotypes
should he get in the F2 generation?)
62- According to independent assortment, this should
produce 4 phenotypes in a 1111 ratio. - THAT NOT WHAT HE OBSERVED
- He observed a large number of wild-type
(gray-normal) and double-mutant (black-vestigial)
just like the parents. - Fewer recombinations than expected!!!!!
63Morgans conclusions
- He reasoned that body color and wing shape are
usually inherited together because their genes
are on the same chromosome (Linked). - The other two phenotypes (gray-vestigial and
black-normal) were fewer than expected from
independent assortment (and totally unexpected
from dependent assortment). - These new phenotypic variations must be the
result of crossing over.
64- The results of Morgans testcross for body color
and wing shape did not conform to either
independent assortment or complete linkage. - Under independent assortment the testcross should
produce a 1111 phenotypic ratio. - If completely linked, we should expect to see a
1100 ratio with only parental phenotypes among
offspring. - Most of the offspring had parental phenotypes,
suggesting linkage between the genes. - However, 17 of the flies were recombinants,
suggesting incomplete linkage.
65- Morgan proposed that some mechanism occasionally
exchanged segments between homologous
chromosomes. - This switched alleles between homologous
chromosomes. - The actual mechanism, crossing over during
prophase I, results in the production of more
types of gametes than one would predict by
Mendelian rules alone.
66- Crossing over accounts for the recombinant
phenotypes in Morgans testcross.
67Geneticists can use recombination data to map a
chromosomes genetic loci
- One of Morgans students, Alfred Sturtevant, used
crossing over of linked genes to develop a method
for constructing a genetic map. - This map is an ordered list of the genetic loci
along a particular chromosome.
Alfred Sturtevant
68- Sturtevant hypothesized that the frequency of
recombinant offspring reflected the distances
between genes on a chromosome. - The farther apart two genes are, the higher the
probability that a crossover will occur between
them and therefore a higher recombination
frequency. - The greater the distance between two
genes,
the more points between them
where crossing
over can occur. - Sturtevant used recombination frequencies from
fruit fly crosses to map the relative position of
genes along chromosomes, a linkage map.
69- Sturtevant used the testcross design to map the
relative position of three fruit fly genes, body
color (b), wing size (vg), and eye color (cn). - The recombination frequency between cn and b is
9. - The recombination frequency between cn and vg is
9.5. - The recombination frequency between b and vg is
17. - The only possible arrangement of these three
genes places the eye color gene between the
other two. - Expressed the distance
between genes, the
recombination frequency,
as map units. - One map unit (sometimes called a centimorgan) is
equivalent to a 1 recombination frequency.
70A couple of points..
- Some genes on a chromosome are so far apart that
a crossover between them is virtually certain. - In this case, the frequency of recombination
reaches is its maximum value of 50 and the genes
act as if found on separate chromosomes and are
inherited independently. - In fact, several genes studies by Mendel are
located on the same chromosome. - For example, seed color and flower color are far
enough apart that linkage is not observed. - Plant height and pod shape should show linkage,
but Mendel never reported results of this cross.
71A couple of points..
- Genes located far apart on a chromosome are
mapped by adding the recombination frequencies
between the distant genes and intervening genes. - Sturtevant and his colleagues were able to map
the linear positions of genes in Drosophila
into four groups, one for each chromosome.
72Your turn to do some MAPPING
- Anaylsis
- If the two genes showed independent assortment,
we would hypothesize a 1111 ratio of
phenotypes from the testcross done. - Instead, most resemble the phenotypes of the two
original parents (the normal round eyes and no
tooth, and the double mutant vertical eyes and
tooth). We must conclude that the genes do not
assort independently. - How many map units between these 2 linked genes?
73Solution
74Another practice problem
- Determine the sequence of genes along a
chromosome based on the following recombination
frequencies - A-B, 8 map units
- A-C, 28 map units
- A-D, 25 map units
- B-C , 20 map units
- B-D, 33 map units.
75Steps for solving
Solution
- Choose the greatest map distance (in this case
33) and place the genes involved at opposite ends
of a line representing a portion of the
chromosome in question - Now choose a gene combination with either B or D
in it. For example A-D 25 map units - Since A-B is only 8 map units, A must be
in the middle - Now choose on that has A in it
- You already have A-D and A-B, so all that is left
is A-C, but where does it gowhich side? - Since the distance from A to B is about 8 and the
distance from C to B is less than the distance
from A to B the C-gene must be to the left of the
B-gene.
76Practice
- A phenotypic wild-type fruit fly (heterozygous
for gray body color and red eyes) was mated with
a double mutant black fruit fly with purple eyes.
- The offspring were as follows wild-type, 721
black-purple, 751 gray-purple, 49 black-red,
45. - (a) What is the recombination frequency between
these genes for body color and eye color? - (b) Are these genes on the same chromosome? If
so, how far apart are they?
77Solution
- Genotypes
- b gray body
- b black body
- pr red eyes
- pr purple eyes
Total flies 1566 (a) The percent recombination
is therefore 6
6
781. Alterations of chromosome number or structure
cause some genetic disorders
Nondisjunction
Aneuploidy
Polyploidy
79Nondisjunction
- Nondisjunction occurs when problems with the
meiotic spindle cause errors in daughter cells. - This may occur if tetrad chromosomes do not
separate properly during meiosis I. - Alternatively, sister chromatids may fail to
separate during meiosis II.
Consequence- some gametes receive two of the same
type of chromosome and another gamete receives no
copy.
80Aneuploidy
- Aneuploidy Abnormal chromosome .
- Trisomic cells have 3 copies of a particular
chromosome type - Down syndrome, Klinefelters
- Monosomic cells have only 1 copy of a particular
chromosome type. - Turner syndrome
condition in which a female does not have the
usual pair of two X chromosomes
- Can occur during failures of the mitotic spindle.
Aneuploidy occurs during cell division when the
chromosomes don't separate properly
(nondisjunction) between the two cells.
Chromosome abnormalities occur in 1 of 160 live
births, the most common being extra chromosomes
21 (Down syndrome), 18 (Edwards syndrome) and 13
(Patau syndrome).
81Aneuploidy-trisomy
- Down syndrome, is due to three copies of
chromosome 21. - Caused by nondisjunction
- It affects one in 700 children born in the United
States. - Although chromosome 21 is the smallest human
chromosome, it severely alters an individuals
phenotype in specific ways.
82Down Syndrome
83Klinefelter Syndrome
Aneuploidy-trisomy
- Affects only males.
- Caused by nondisjunction.
- Males who have Klinefelter
syndrome have an extra X
chromosome (XXY), giving them a total
of 47 instead
of the normal 46 chromosomes
- Develop as males with subtle characteristics that
become apparent during puberty. They are often
tall and usually don't develop secondary sex
characteristics, such as facial hair or underarm
and pubic hair. The extra X chromosome primarily
affects the testes, which produce sperm and the
male hormone testosterone. - At puberty, men with this syndrome often develop
more breast tissue than normal, have a less
muscular body, and grow very little facial or
body hair. Most are sterile because they cannot
produce sperm. Learning disabilities are also a
common problem for them. - Hormone replacement Teenagers are typically
given testosterone injections to replace the
hormone that would normally be produced by the
testes.
84Polyploidy
- More than two complete sets of chromosomes.
- This may occur when a normal gamete fertilizes
another gamete in which there has been
nondisjunction of all its chromosomes. - The resulting zygote would be triploid ( n).
85- Polyploidy is relatively common among plants and
much less common among animals. - Both fishes and amphibians have polyploid
species. - Recently, researchers in Chile have identified
a new rodent species that may be the product
of polyploidy.
Triploid crops banana, apple, grass carp, ginger
Tetraploid crops durum or macaroni wheat,
maize, cotton, potato, cabbage, leek, tobacco,
peanut, Pelargonium Hexaploid crops
chrysanthemum, bread wheat, triticale, oat
Octaploid crops strawberry, dahlia, pansies,
sugar cane
86Charts that show relationships within a family
Pedigree
47
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88- How many boys? __________________
- How many Girls? __________________
- How many generations? _______________
- How many with the disorder? ____________
- How many marriages are shown? ____________
13
12
3
4
6
89- How many generations?
- How many carriers?
- How many affected males?
- How many affected females?
- Autosomal or sex-linked?
90(No Transcript)
91Autosomal-Dominant
What can you tell by the pedigree? Dominant or
recessive? Autosomal or sex-linked?
92SEX-LINKED
What can you tell by the pedigree? Dominant or
recessive? Autosomal or sex-linked?
93SEX-LINKED
What can you tell by the pedigree? Dominant or
recessive? Autosomal or sex-linked?
94Autosomal -Dominant
Dominant or recessive? Autosomal or sex-linked?
NO carriers when Dominant.
95Autosomal -Recessive
Carriers when recessive.
96Practice
- 1) How many unique gametes could be produced
through independent assortment by an individual
with the genotype AaBbCCDdEE? AaBbCcDDEe? - 2) Genes A, B, and C are located on the same
chromosome. Testcrosses show that the
recombination frequency between A and B is 28
and between A and C is 12. Can you determine
the linear order of these genes? - 3) Study guide p.116 Genetics Problmes 1,2,3
- 6) Study Guide p117, Questions 7
- 7) Study Guide p118 question 16, 17,18
- 8) Book page 292 8
- 9) Book page 292 9
97Video Clips to Watch
Cassiopeia Poject Genetics Disorders http//www.p
bs.org/wgbh/nova/genome/program_adv.html
- http//highered.mcgraw-hill.com/sites/0072437316/s
tudent_view0/chapter16/animations.html