Beyond Mendel’s Laws
of Inheritance

AP Biology

2006-2007
Extending Mendelian genetics
 Mendel worked with a simple system
peas are genetically simple
 most traits are controlled...
Incomplete dominance
 Heterozygote shows an intermediate,
blended phenotype


example:
 RR = red flowers →RR
 rr = whi...
Incomplete dominance
P

X

true-breeding
red flowers

F1

true-breeding
white flowers

100% pink flowers

100%

generation...
Co-dominance
 2 alleles affect the phenotype equally &
separately
not blended phenotype
 human ABO blood groups
 3 alle...
Genetics of Blood type
phenogenotype
type

A
B
AB
O
AP Biology

antigen
on RBC

antibodies
in blood

donation
status

A A ...
Pleiotropy
 Most genes are pleiotropic


one gene affects more than one
phenotypic character
 1 gene affects more than ...
Acromegaly: André the Giant

AP Biology
Inheritance pattern of Achondroplasia
Aa

x aa

Aa

x Aa

dominant
inheritance

a
A
a

a

Aa

Aa

dwarf

dwarf

aa

aa

50...
Epistasis
 One gene completely masks another gene


coat color in mice = 2 separate genes
 C,c:

B_C_
bbC_
_ _cc

AP Bi...
Epistasis in Labrador retrievers
 2 genes: (E,e) & (B,b)



pigment (E) or no pigment (e)
pigment concentration: black ...
Polygenic inheritance
 Some phenotypes determined by

additive effects of 2 or more genes on a
single character
phenotype...
Skin color: Albinism

Johnny & Edgar Winter

 However albinism can be
inherited as a single gene trait


aa = albino

al...
OCA1 albino

AP Biology

Bianca Knowlton
Sex linked traits

1910 | 1933

 Genes are on sex chromosomes




as opposed to autosomal chromosomes
first discovered...
Classes of chromosomes

autosomal
chromosomes
sex
chromosomes
AP Biology
Discovery of sex linkage
P

F1

true-breeding
red-eye female

X

true-breeding
white-eye male

100%
red eye offspring

Huh...
What’s up with Morgan’s flies?
x
RR
r
R

Rr

x
rr

Rr

r
Rr

Rr
R

R

r

RR

Rr

Rr

rr

Doesn’t work
that way!

R
AP Biol...
Genetics of Sex
 In humans & other mammals, there are 2
sex chromosomes: X & Y


2 X chromosomes
 develop as a female: ...
Let’s reconsider Morgan’s flies…
x
XR X R
Xr
XR
XR
AP Biology

XR Xr
XR Xr

x
XrY

X R Xr

Y
XR Y
XR Y

100% red eyes

XR ...
Genes on sex chromosomes
 Y chromosome


few genes other than SRY
 sex-determining region
 master regulator for malene...
Human X chromosome
 Sex-linked

Duchenne muscular dystrophy
Becker muscular dystrophy

usually
means
“X-linked”
 more th...
Map of Human Y chromosome?
< 30 genes on
Y chromosome

Sex-determining Region Y (SRY)
Channel Flipping (FLP)
Catching & Th...
AP Biology
sex-linked recessive

Hemophilia
H
HH
XHhh x XHY
X

XH
male / sperm

female / eggs

XH
X

H

Xh

AP Biology

Y

XH X H

XH...
X-inactivation
 Female mammals inherit 2 X chromosomes


one X becomes inactivated during
embryonic development
 conden...
Male pattern baldness
 Sex influenced trait


autosomal trait influenced by sex hormones
 age effect as well = onset af...
Environmental effects
 Phenotype is controlled by
both environment & genes
Human skin color is influenced
by both genetic...
Any Questions?

AP Biology

2006-2007
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  • The genes that we have covered so far affect only one phenotypic character, but most genes are pleiotropic
  • Duchenne muscular dystrophy affects one in 3,500 males born in the United States.
    Affected individuals rarely live past their early 20s.
    This disorder is due to the absence of an X-linked gene for a key muscle protein, called dystrophin.
    The disease is characterized by a progressive weakening of the muscles and loss of coordination.
  • Hemophilia is a sex-linked recessive trait defined by the absence of one or more clotting factors.
    These proteins normally slow and then stop bleeding.
    Individuals with hemophilia have prolonged bleeding because a firm clot forms slowly.
    Bleeding in muscles and joints can be painful and lead to serious damage.
    Individuals can be treated with intravenous injections of the missing protein.
  • The relative importance of genes &amp; the environment in influencing human characteristics is a very old &amp; hotly contested debate
    a single tree has leaves that vary in size, shape &amp; color, depending on exposure to wind &amp; sun
    for humans, nutrition influences height, exercise alters build, sun-tanning darkens the skin, and experience improves performance on intelligence tests
    even identical twins — genetic equals — accumulate phenotypic differences as a result of their unique experiences
  • 58 ch13beyondmendel2008

    1. 1. Beyond Mendel’s Laws of Inheritance AP Biology 2006-2007
    2. 2. Extending Mendelian genetics  Mendel worked with a simple system 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   The relationship between genotype & phenotype is rarely that simple AP Biology
    3. 3. Incomplete dominance  Heterozygote shows an intermediate, blended phenotype  example:  RR = red flowers →RR  rr = white flowers →WW  Rr = pink flowers →RW  make 50% less color AP Biology RR RW WW
    4. 4. Incomplete dominance P X true-breeding red flowers F1 true-breeding white flowers 100% pink flowers 100% generation (hybrids) self-pollinate F2 generation AP Biology 25% red 50% pink 25% white It’s like flipping 2 pennies! 1:2:1
    5. 5. Co-dominance  2 alleles affect the phenotype equally & separately not blended phenotype  human ABO blood groups  3 alleles   IA, IB, i  IA & IB alleles are co-dominant  glycoprotein antigens on RBC  IAIB = both antigens are produced  i allele recessive to both AP Biology
    6. 6. Genetics of Blood type phenogenotype type A B AB O AP Biology antigen on RBC antibodies in blood donation status A A or A I i type A antigens on surface of RBC anti-B antibodies __ IB IB or IB i type B antigens on surface of RBC anti-A antibodies __ IA IB both type A & type B antigens on surface of RBC no antibodies universal recipient ii no antigens on surface of RBC anti-A & anti-B antibodies universal donor I I
    7. 7. Pleiotropy  Most genes are pleiotropic  one gene affects more than one phenotypic character  1 gene affects more than 1 trait  dwarfism (achondroplasia)  gigantism (acromegaly) AP Biology
    8. 8. Acromegaly: André the Giant AP Biology
    9. 9. Inheritance pattern of Achondroplasia Aa x aa Aa x Aa dominant inheritance a A a a Aa Aa dwarf dwarf aa aa 50% dwarf:50% AP Biology normal or 1:1 A A a a AA Aa lethal Aa aa 67% dwarf:33% normal or 2:1
    10. 10. Epistasis  One gene completely masks another gene  coat color in mice = 2 separate genes  C,c: B_C_ bbC_ _ _cc AP Biology pigment (C) or no pigment (c)  B,b: more pigment (black=B) or less (brown=b)  cc = albino, no matter B allele  9:3:3:1 becomes 9:3:4 How would you know that difference wasn’t random chance? Chi-square test!
    11. 11. Epistasis in Labrador retrievers  2 genes: (E,e) & (B,b)   pigment (E) or no pigment (e) pigment concentration: black (B) to brown (b) eebb AP Biology eeB– E–bb E–B–
    12. 12. Polygenic inheritance  Some phenotypes determined by additive effects of 2 or more genes on a single character phenotypes on a continuum  human traits       AP Biology skin color height weight intelligence behaviors
    13. 13. Skin color: Albinism Johnny & Edgar Winter  However albinism can be inherited as a single gene trait  aa = albino albino Africans melanin = universal brown color enzyme tyrosine AP Biology melanin albinism
    14. 14. OCA1 albino AP Biology Bianca Knowlton
    15. 15. Sex linked traits 1910 | 1933  Genes are on sex chromosomes    as opposed to autosomal chromosomes first discovered by T.H. Morgan at Columbia U. Drosophila breeding  good genetic subject  prolific  2 week generations  4 pairs of chromosomes  XX=female, XY=male AP Biology
    16. 16. Classes of chromosomes autosomal chromosomes sex chromosomes AP Biology
    17. 17. Discovery of sex linkage P F1 true-breeding red-eye female X true-breeding white-eye male 100% red eye offspring Huh! Sex matters?! generation (hybrids) F2 generation AP Biology 100% red-eye female 50% red-eye male 50% white eye male
    18. 18. What’s up with Morgan’s flies? x RR r R Rr x rr Rr r Rr Rr R R r RR Rr Rr rr Doesn’t work that way! R AP Biology Rr Rr 100% red eyes r 3 red : 1 white
    19. 19. Genetics of Sex  In humans & other mammals, there are 2 sex chromosomes: X & Y  2 X chromosomes  develop as a female: XX  gene redundancy, like autosomal chromosomes   develop as a male: XY  no redundancy AP Biology X Y X XX XY X XX XY an X & Y chromosome 50% female : 50% male
    20. 20. Let’s reconsider Morgan’s flies… x XR X R Xr XR XR AP Biology XR Xr XR Xr x XrY X R Xr Y XR Y XR Y 100% red eyes XR Y XR XR BINGO! Xr Y XR X R XR Y XR Xr XrY 100% red females 50% red males; 50% white males
    21. 21. Genes on sex chromosomes  Y chromosome  few genes other than SRY  sex-determining region  master regulator for maleness  turns on genes for production of male hormones  many effects = pleiotropy!  X chromosome  AP Biology other genes/traits beyond sex determination  mutations:  hemophilia  Duchenne muscular dystrophy  color-blindness
    22. 22. Human X chromosome  Sex-linked Duchenne muscular dystrophy Becker muscular dystrophy usually means “X-linked”  more than 60 diseases traced to genes on X chromosome  Chronic granulomatous disease Retinitis pigmentosa-3 Norrie disease Retinitis pigmentosa-2 Hypophosphatemia Aicardi syndrome Hypomagnesemia, X-linked Ocular albinism Retinoschisis Adrenal hypoplasia Glycerol kinase deficiency Ornithine transcarbamylase deficiency Incontinentia pigmenti Wiskott-Aldrich syndrome Menkes syndrome Sideroblastic anemia Aarskog-Scott syndrome PGK deficiency hemolytic anemia Anhidrotic ectodermal dysplasia Agammaglobulinemia Kennedy disease Pelizaeus-Merzbacher disease Alport syndrome Fabry disease Immunodeficiency, X-linked, with hyper IgM Lymphoproliferative syndrome Albinism-deafness syndrome Fragile-X syndrome AP Biology Ichthyosis, X-linked Placental steroid sulfatase deficiency Kallmann syndrome Chondrodysplasia punctata, X-linked recessive Androgen insensitivity Charcot-Marie-Tooth neuropathy Choroideremia Cleft palate, X-linked Spastic paraplegia, X-linked, uncomplicated Deafness with stapes fixation PRPS-related gout Lowe syndrome Lesch-Nyhan syndrome HPRT-related gout Hunter syndrome Hemophilia B Hemophilia A G6PD deficiency: favism Drug-sensitive anemia Chronic hemolytic anemia Manic-depressive illness, X-linked Colorblindness, (several forms) Dyskeratosis congenita TKCR syndrome Adrenoleukodystrophy Adrenomyeloneuropathy Emery-Dreifuss muscular dystrophy Diabetes insipidus, renal Myotubular myopathy, X-linked
    23. 23. Map of Human Y chromosome? < 30 genes on Y chromosome Sex-determining Region Y (SRY) Channel Flipping (FLP) Catching & Throwing (BLZ-1) Self confidence (BLZ-2) Devotion to sports (BUD-E) Addiction to death & destruction movies (SAW-2) note: not linked to ability gene Air guitar (RIF) Scratching (ITCH-E) Spitting (P2E) Inability to express affection over phone (ME-2) AP Biology linked Selective hearing loss (HUH) Total lack of recall for dates (OOPS)
    24. 24. AP Biology
    25. 25. sex-linked recessive Hemophilia H HH XHhh x XHY X XH male / sperm female / eggs XH X H Xh AP Biology Y XH X H XH X h X HY Xh XH X H Xh Xh Y carrier disease X HY Y
    26. 26. X-inactivation  Female mammals inherit 2 X chromosomes  one X becomes inactivated during embryonic development  condenses into compact object = Barr body  which X becomes Barr body is random  patchwork trait = “mosaic” patches of black XH  XH X h tricolor cats can only be AP Biology female Xh patches of orange
    27. 27. Male pattern baldness  Sex influenced trait  autosomal trait influenced by sex hormones  age effect as well = onset after 30 years old  dominant in males & recessive in females  B_ = bald in males; bb = bald in females AP Biology
    28. 28. Environmental effects  Phenotype is controlled by both environment & genes Human skin color is influenced by both genetics & environmental conditions Coat color in arctic fox influenced by heat sensitive alleles Color of Hydrangea flowers AP Biology is influenced by soil pH
    29. 29. Any Questions? AP Biology 2006-2007

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