Colonie High AP Biology DeMarco/Goldberg

Chapter 12.2 ± 12.3 Extending Mendelian Genetics

%H\RQG0HQGHO¶V/DZV ƒ Mendel worked with a simple system
of Inheritance ‹ peas are genetically simple
‹ most traits are controlled by a
single gene
‹ each gene has only 2 alleles, 1 of which
is completely dominant to the other
ƒ The relationship between
genotype & phenotype
is rarely that simple

2¶FORFN
Incomplete Dominance Incomplete Dominance flowers
ƒ when one allele is partially dominant Parent RR X 5ƍ5ƍ
over the other generation
(P)
ƒ K\EULGVKDYH³LQ between´DSSHDUDQFH true-breeding
red flowers
true-breeding
white flowers
‹ RR = red flowers o RR
‹ rr = white flowers o Rƍ5ƍ
R = red 100% pink flowers

5ƍ ZKLWH 1st 55ƍ 55ƍ 55ƍ 55ƍ 100%

‹ Rr = pink flowers o 55ƍ generation
(F1 hybrids)
ƒ make 50% less color
self-pollinate

25% 50% 25%

2nd
red pink white 1:2:1
generation
(F2)
RR Rr rr

Incomplete Dominance (alt) Co-dominance

C RC W x C RC W
% %
ƒ this time, both alleles are expressed, but
genotype phenotype they are NOT blended together
‹ RR = red coat color o RR
C RC R 25% 25% R = red
‹ rr = white coat color o WW
male / sperm
CR CW W = white
C RC W ‹ Rr = pink
roan coat color o RW
coat color?
50% 50%
C RC R C RC W
female / eggs

CR C RC W

CRCW CWCW 25% 25%

CW CWCW
1:2:1 1:2:1
Colonie High AP Biology DeMarco/Goldberg

1901 | 1930
Co-dominance Blood Type Compatibility
ƒ 2 alleles affect the phenotype in ƒ Matching compatible blood groups
separate, distinguishable ways ‹ critical for blood transfusions
‹ ABO blood groups ƒ A person produces antibodies
‹ 3 alleles
against oligosaccharides in foreign
ƒ IA, IB, i
blood
ƒ both IA & IB are dominant to i allele
‹ wrong blood type
ƒ GRQRU¶VEORRGKDV$RU%
ƒ IA & IB alleles are co-dominant to each other
oligosaccharide that is foreign to
‹ determines presences of recipient Karl Landsteiner
oligosaccharides/antigens ƒ DQWLERGLHVLQUHFLSLHQW¶VEORRGELQGWR (1868-1943)
on the surface of red blood foreign molecules
cells ƒ cause donated blood cells to clump
together
ƒ can kill the recipient

Blood Types Blood Type Compatibility

genotype phenotype phenotype status

type A
IA IA IA i type A oligosaccharides on
surface of RBC
__
type B
IB IB IB i type B oligosaccharides on
surface of RBC
__
both type A & type B universal
IA IB type AB oligosaccharides on
surface of RBC recipient
no oligosaccharides universal
ii type O on surface of RBC donor

Pleiotropy Acromegaly: André the Giant

ƒ Most genes are pleiotropic
‹ one gene affects more than one
phenotypic character
ƒ wide-ranging effects due to a single gene:
ƒ dwarfism (achondroplasia)
ƒ gigantism vs. acromegaly
Colonie High AP Biology DeMarco/Goldberg

Pleiotropy Epistasis
ƒ It is not surprising that a gene can ƒ One gene masks another
DIIHFWDQXPEHURIRUJDQLVP¶V ‹ coat color in mice =
characteristics 2 genes
‹ consider the intricate molecular & ƒ pigment (C) or
cellular interactions responsible for an no pigment (c)
RUJDQLVP¶VGHYHORSPHQW ƒ more pigment (black=B)
or less (brown=b)
ƒ cystic fibrosis
ƒ cc = albino,
Š mucus build up in many organs
no matter B allele
ƒ sickle cell anemia
ƒ 9:3:3:1 becomes 9:3:4
Š sickling of blood cells

Johnny & Edgar Winter

Epistasis in Labs Epistasis in People
ƒ 2 genes: E & B
‹ pigment (E) or no pigment (e)
‹ how dark pigment will be: black (B) to brown (b)

albino
Africans

Polygenic Inheritance Nature vs. Nurture

ƒ Some phenotypes determined by ƒ Phenotype is controlled by
additive effects of 2 or more genes on a both environment & genes
single character
‹ phenotypes on a continuum
‹ human traits
ƒ skin color Coat color in arctic
ƒ height fox influenced by
heat sensitive alleles
ƒ weight
Color of Hydrangea flowers
ƒ eye color is influenced by soil pH
ƒ intelligence
ƒ behaviors Human skin color is influenced
by both genetics &
environmental conditions
Colonie High AP Biology DeMarco/Goldberg

1910 | 1933
,WDOOVWDUWHGZLWKDIO\« Thomas Hunt Morgan
ƒ Chromosome theory of inheritance ƒ embryologist at Columbia University
‹ experimental evidence from improved ‹ 1st to associate a specific gene with a
microscopy & animal breeding led us to specific chromosome
a better understanding of chromosomes ‹ Drosophila breeding
& genes beyond Mendel ƒ prolific
ƒ Drosophila studies ƒ 2 week generations
ƒ 4 pairs of chromosomes
A. H. Sturtevant in ƒ XX=female, XY=male
the Drosophila
stockroom at
Columbia University

0RUJDQ¶VFirst Mutant« Explanation of Sex Linkage

ƒ Wild type fly = red eyes
ƒ Morgan found a mutant white-eyed male
red eye
female
x white eye
male
‹ traced the gene for eye color to a specific
all
chromosome
red eye
offspring

100% of
50% of
females
have x males have
white eyes
red eyes

How is this possible?

Sex-linked trait!

Sex-linked Traits Sex Linked Traits

ƒ Although differences between women & ƒ because the Y chromosome is actually
men are many, the chromosomal basis smaller than the X chromosome, men
of sex is rather simple RQO\KDYHRQHFRS\RIFHUWDLQJHQHV«
ƒ In humans & other mammals, there are ƒ VR«LIWKH;FKURPRVRPHKDVD
2 sex chromosomes: X & Y recessive allele, that has to be
‹ 2 X chromosomes develops as expressed because that is all that is
a female: XX there! but haploid here
ƒ redundancy
diploid here
‹ an X & Y chromosome develops
as a male: XY but haploid here
ƒ no redundancy
X Y
Colonie High AP Biology DeMarco/Goldberg

Explanation of Sex Linkage Genes on Sex Chromosomes

ƒ Y chromosome
red eye
female
x white eye
male ‹ SRY: sex-determining region
ƒ master regulator for maleness
all ƒ turns on genes for production of
red eye male hormones
offspring Š pleiotropy!
ƒ X chromosome
100% of
50% of Contains a gene called DAX1, an anti-
females
have x males have
white eyes
‹
WHVWHVIDFWRU«65<LQKLELWV'$;
red eyes
‹ other traits beyond sex determination
ƒ hemophilia
How is this possible?
ƒ Duchenne muscular dystrophy
Sex-linked trait! ƒ color-blind

Human X Chromosome Sex-Linked Traits 2 µQRUPDO¶parents,

ƒ Sex-linked HY x XHh
HXh
but mother is carrier
XHH for a sex-linked trait
‹ usually X-linked
‹ more than 60
male / sperm
diseases traced XH
to genes on X XH Y
XHY
chromosome
Y female / eggs
XH XHXH XHY

XH
XHXh Xh XHXh XhY
Xh

Sex-Linked Traits Hints

ƒ X-linked
‹ follow the X chromosomes
‹ males get their X from their mother
‹ trait is never passed from father to son

ƒ Y-linked
‹ very few traits
‹ only 26 genes
‹ trait is only passed from father to son

‹ females cannot inherit trait

Colonie High AP Biology DeMarco/Goldberg

Bacteria
ƒ Bacteria review
‹ one-celled organisms
‹ prokaryotes
‹ reproduce by

binary fission
‹ rapid growth

ƒ generation every ~20 minutes

ƒ 108 (100 million) colony overnight!
‹ dominant form of life on Earth
‹ incredibly diverse

Bacterial Diversity

Borrelia burgdorferi Treponema pallidum

Lyme disease Syphillis

Escherichia coli O157:H7 Enterococcus faecium

Hemorrhagic E. coli skin infections

Binary Fission Conjugation

ƒ Replication of ƒ Direct transfer of DNA between 2 bacterial cells
that are temporarily joined
bacterial
‹ results from presence of F plasmid with F factor
chromosome ƒ )IRU³IHUWLOLW\´'1$
ƒ Asexual ‹ (FROL³PDOH´H[WHQGVVH[SLOOLDWWDFKHVWR
female bacterium
reproduction
‹ cytoplasmic bridge allows transfer of DNA
‹ offspring
genetically
identical to
parent
‹ where does
variation come
from?