Exam 1 Slide 1

Biology 221: Genetics, Development, and Evolution

I. Genetics Two major themes: 1. Heredity characteristics of parents are passed on to offspring. 2. Molecular genetics inheritance based on information encoded in DNA and the molecular machinery that controls its expression and replication.

Exam 1 Slide 2

Exam 1 Slide 3

Genetics, Development, and Evolution (continued)

II. Development All multicellular organisms grow and develop from a single fertilized egg. How?

Exam 1 Slide 4

Fate Map of the nematode worm Caenorhabditis elegans (C. elegans)

Adults: 1.2 mm long Made up of exactly 959 somatic cells

Exam 1 Slide 5

Genetics, Development, and Evolution (continued)

II. Development All multicellular organisms grow and develop from a single fertilized egg. How?

1. Differentiation cells divide and take on different characteristics.

2. Morphogenesis differentiated cells are organized into tissues and organs, and assume characteristic pattern, shape, and form.

Exam 1 Slide 6

Genetics, Development, and Evolution (continued) III. Evolution Two fundamental problems of evolutionary biology:
1. Adaptation and apparent design evident at all levels of biological organization.
2. Variation and biological diversity incredible (and chaotic!) variety of organisms.

Species living on earth: Named and described species: Insects: Beetles:

5-100 million 1.7 million 1 million 600,000

Exam 1 Slide 7

85 of the 183 species (!) of tyrant flycatchers (family Tyrannidae) of Colombia

Exam 1 Slide 8

III. Evolution Two fundamental problems of evolutionary biology (continued):

1. Adaptation and apparent design evident at all levels of biological organization.

2. Variation and biological diversity incredible (and chaotic!) variety of organisms.

Solutions: 1. Adaptation and apparent design evolves gradually by process of natural selection. 2. Biological diversity evolves gradually by process of speciation.

Exam 1 Slide 9

Biology 221: The Three Big Questions

1. How is the genetic information encoded in DNA expressed, regulated, and passed on to subsequent generations?
2. How does genetic information orchestrate the growth and development of multicellular organisms? 3. How does genetic information evolve over time to produce both adaptation and biological diversity?

Exam 1 Slide 10

Two Aspects of Genetics

1. Heredity: the means by which traits are passed from parents to offspring. 2. Molecular genetics: replication of genetic material, transcription, translation, and regulation of gene expression.

Exam 1 Slide 11

Origin of replication

Prokaryotic cell

Prokaryotic Replication chromosome: of DNA Double-stranded DNA

Cell Division in Prokaryotes

Elongation of cell
Septation Inward growth of septum Cell pinches in two

Exam 1 Slide 12

Eukaryotic Cells
Plasma membrane

Cytoplasm

Organelles

Nuclear envelope
Nucleus

Exam 1 Slide 13

Levels of Chromosome Organization in Eukaryotes

Chromatin loop

Scaffold protein Scaffold protein Solenoid

DNA Rosettes of chromatin loops Chromosome Central Nucleohistone some

DNA

DNA double helix (duplex)

Nucleosome DNA coiled around histone proteins. Solenoid coil of nucleosomes. Chromatin loop looped string of solenoids.

Exam 1 Slide 14

Homologous Chromosomes vs. Sister Chromatids of Replicated Chromosomes

Homologous chromosomes Homologous chromosomes

Centromere

Replication

Maternal

Paternal

Homologous chromosomes a pair of chromosomes, one inherited from each parent, that carry equivalent genes. Sister chromatids the two replicates of a duplicated chromosome, held together by a centromere.

Sister Sister chromatids chromatids Chromosomes are counted by counting centromeres

Exam 1 Slide 15

Karyotype of a Human Male

N = 46 chromosomes 23 homologous pairs (22 pairs of autosomes and 1 pair of sex chromosomes)

Exam 1 Slide 16

The Eukaryotic Cell Cycle

Metaphase Prophase

M Nuclear (mitotic) division) M

Anaphase Telophase
C
C Cytoplasmic division

G2 Secondary growth phase

G2

Interphase (G1, S, G2 phases) Mitosis (M) S

S Complete replica of genome synthesized

Cytokinesis (C)

G1
G1 Primary growth phase

Exam 1 Slide 17

Prelude to Cell Division: Late Interphase

INTERPHASE (G2)

Nucleus

Nucleolus

Chromatin (replicated)

Centrioles (replicated; animal cells only)

Nuclear membrane Aster

DNA already replicated (during S phase) Centrioles, if present, replicate Cell prepares for division

Exam 1 Slide 18

Mitosis: Prophase and Metaphase

MITOSIS Prophase Metaphase

Condensed chromosomes Mitotic spindle

Chromosomes aligned on metaphase plate

Polar Mitotic spindle beginning to form Centromere and microtubules kinetochore Nuclear membrane disintegrates, and nucleolus disappears Chromosomes condense Mitotic spindle begins to form and is complete at the end of prophase Kinetochores begin to mature and attach to spindle

Kinetochore microtubules

Kinetochores attach chromosomes to mitotic spindle and align them along metaphase plate at equator of cell

Exam 1 Slide 19

Chromosome Structure During Metaphase

Kinetochore Kinetochore microtubules

Chromatid

Centromere region of chromosome

Metaphase chromosome (two sister chromatids)

Exam 1 Slide 20

Mitosis: Anaphase and Telophase

Anaphase
MITOSIS

Telophase

Polar microtubules

Chromosomes

Nuclei reforming

Polar microtubules

Kinetochore microtubules Kinetochore microtubules shorten, separating chromosomes to opposite poles Polar microtubules elongate, preparing cell for cytokinesis

Chromosomes reach poles of cell Kinetochores disappear Polar microtubules continue to elongate, preparing cell for cytokinesis Nuclear membrane re-forms Nucleolus reappears Chromosomes decondense

Exam 1 Slide 21

Cytokinesis
CYTOKINESIS

Plant Cells

Cell plate Cleavage furrow

Plant cells: cell plate forms, dividing daughter cells Animal cells: cleavage furrow forms at equator of cell and pinches inward until cell divides in two

Animal Cells

Exam 1 Slide 22

Mitosis Quiz: Name That Stage!

Mitosis: The TakeHome Message

Two genetically identical daughter cells are produced from a single original cell!

Exam 1 Slide 23

Summary of Mitosis
Genetic material in Eukaryotes is organized into chromosomes composed of chromatin (DNA and its associated packaging proteins). Cell division in Eukaryotes is accomplished through a complex process called mitosis. Before mitosis begins, the cells entire genome is replicated during the S phase of the cell cycle. A replicated chromosome consists of two identical sister chromatids connected by a centromere. Mitosis orchestrates the separation of sister chromatids into independent chromosomes in two separate daughter cells. The final step of cell division is the physical separation of the daughter cells via cytokinesis.

Exam 1 Slide 24

The Trouble With Sex

Sexual reproduction Fusion of specialized sex cells (gametes) to form a fertilized zygote which subsequently divides, grows, and develops into an adult. Sexually reproducing organisms must therefore have a mechanism to reduce the number of chromosomes by half before forming gametes. Meiosis!

Exam 1 Slide 25

Sexual Life Cycle and Meiosis

Adult body cells are diploid have two copies (homologous pair) of each chromosome. Gametes are haploid have one copy of each chromosome.

Exam 1 Slide 26

Unique Features of Meiosis

Reduction division Meiosis involves two successive divisions, with no replication of genetic material between them. Synapsis Homologous chromosomes pair along their length. Homologous recombination Genetic exchange (crossing over) occurs between homologous chromosomes during first meiotic division.

Exam 1 Slide 27

Synapsis, Crossing over, and Chiasmata

Identical sister chromatids Identical sister chromatids Red= Maternal Blue = Paternal

Tetrad

Note: There can be multiple Chiasmata between a pair of homologous chromosomes!

Sister chromatids are now no longer identical!

Parental chromatid

Parental chromatid

Arrows point to regions of crossing over. Note that sister chromatids cannot be resolved

Exam 1 Slide 28

Mitosis vs. Meiosis I

MITOSIS
Paternal homologue

MEIOSIS

Parent cell (2n)

Homologous chromosomes Maternal homologue

Parent cell (2n)

Chromosome replication Sister chromatids

MEIOSIS I
Chromosome replication Homologous chromosomes do not pair. Homologous chromosomes pair; synapsis and crossing over occur.

Prophase
Replicated homologue

Prophase I

Metaphase

Individual homologues align on metaphase plate.

Metaphase I

Paired homologous chromosomes align at random on metaphase plate.

Anaphase Telophase
Two daughter cells (each 2n)

Sister chromatids separate, cytokinesis occurs, and two cells result, each Anaphase I Telophase I containing the original number of homologues.

Homologous chromosomes separate; sister chromatids remain together.

Exam 1 Slide 29

Metaphase and Anaphase: Mitosis vs. Meiosis I

Homologues are not paired. Kinetochores of sister chromatids remain separate. Microtubules attach to both kinetochores on opposite sides of the centromere. Homologs are paired, held together by chiasmata. The kinetochores of sister chromatids fuse and function as one. Microtubules can attach to only one side of each centromere.

Mitosis
Metaphase Metaphase I

Meiosis I

Chiasmata

Anaphase I

Anaphase

Microtubules pull sister chromatids apart.

Microtubules pull the homologous chromosomes apart, but sister chromatids are held together.

Exam 1 Slide 30

After Telophase of Meiosis I

the two daughter cells are now haploid!

Daughter cells have only one copy of each pair of homologous chromosomes.

Because of crossing over during Prophase I

Homologous chromosomes

Nonidentical sister chromatids

1. Each chromosome consists of two non-identical chromatids. 2. Chromosomes are no longer purely paternal or maternal; they typically contain a mix of maternal and paternal genes.

Exam 1 Slide 31

Metaphase II

Meiosis II
Anaphase II

Telophase II

Meiosis II resembles normal mitotic division, but with half the normal diploid number of chromosomes. Final result four genetically non-identical haploid cells!

Exam 1 Slide 32

Summary of Meiosis
Only germ-line cells that give rise to haploid gametes undergo meiosis. Outcome of a meiotic cell division: four non-identical haploid cells. Daughter cells contain a mix of maternal and paternal characteristics, because of: Crossing over and exchange of genetic material (recombination) by homologous chromosomes during Prophase I. Independent assortment of homologous chromosomes during Anaphase I. Maternal and paternal chromosomes do not stick together.

Exam 1 Slide 33

Gregor Mendel and the Garden Pea

Advantages of garden peas:
Many true-breeding varieties. Easily distinguishable traits. Easy to grow. Short generation time. Flowers can be cross-fertilized or self-fertilized.

Exam 1 Slide 34

Mendels Experimental Design

allowed pea plants to self-fertilize for several generations.
assured pure-breeding traits.

performed crosses between varieties exhibiting alternative character forms. permitted hybrid offspring to selffertilize for several generations. counted the number of offspring exhibiting particular traits.

Exam 1 Slide 35

Mendels Experimental Results: F1

Parental Generation Crossed two truebreeding varieties of peas, one with white flowers and one with purple flowers: a monohybrid cross.
F1 Generation (first filial) All offspring had purple flowers! No blending inheritance. Mendels conclusion: purple is

dominant, white is recessive!

Exam 1 Slide 36

Mendels Experimental Results: F2

F2 Generation (second filial)
Mendel allowed purple F1 to selffertilize.

F2 offspring purple:white in an approximate 3:1 ratio!

Exam 1 Slide 37

Mendels Experimental Results: F3

All of the recessive white F2 plants were true-breeding!

produced only white offspring when selffertilized.

However, only 1/3 of the dominant purple F2 plants were truebreeding!

2/3 produced purple: white offspring in a 3:1 ratio when self-fertilized.

Exam 1 Slide 38

The Seven Traits Studied By Mendel

All showed the same 3:1 ratio of Dominant: Recessive in the F2 Generation.

Exam 1 Slide 39

Mendels Model of Heredity

Parents transmit discrete inheritance factors (genes) to offspring. Each individual receives two such factors for each trait, one from the gamete of each parent. The existence of alternative forms (alleles) of these factors means that some individuals have two identical forms (homozygous) while other individuals have two different forms (heterozygous). The two factors for a trait separate from each other when gametes form: Mendels Law of Segregation (or Mendels First Law). Presence of a particular allele does not ensure it will be expressed in a heterozygote: Mendels Law of Dominance.

Exam 1 Slide 40

Mendels Monohybrid Cross

P F1

PP x pp genotype: all Pp heterozygotes phenotype: all Purple

F1 F2

Notational convention P - dominant allele (purple) p - recessive allele (white) PP - homozygous dominant Pp - heterozygous pp - homozygous recessive

Pp x Pp genotype: 1:2:1 ratio 1 PP homozygote 2 Pp heterozygotes 1 pp homozygote phenotype: 3:1 ratio of Purple:White

Exam 1 Slide 41

Mendel and the Testcross

Q. How can we determine if an individual with the dominant phenotype is homozygous or heterozygous? A. The Testcross cross it with a homozygous recessive!

Exam 1 Slide 42

Independent Assortment and the Dihybrid Cross

Mendels First Law Alternative alleles of trait (gene) segregate independently. Mendel then asked: Do alleles of two different traits also segregate independently?
Mendel tested this possibility with a series of dihybrid crosses.

Exam 1 Slide 43

The Dihybrid Cross and Independent Assortment

Pure-breeding individuals that differ in two traits are crossed. If alleles of the two traits assort independent, then F2 offspring should show phenotype ratios of 9:3:3:1.
Round (R) is dominant to wrinkled (r) Yellow (Y) is dominant to green (y)

Exam 1 Slide 44

Mendels Second Law: Independent Assortment

During gamete formation, the segregation of the pair of alleles for one trait is independent of the segregation of the pair of alleles for another trait. *
* Strictly speaking, applies only when the genes affecting the two traits are located on different chromosomes.

Exam 1 Slide 45

Mendels Laws and Behavior of Chromosomes During Meiosis

Mendels 1st Law: Law of Segregation
Genotype Ss

Mendels 2nd Law: Independent Assortment

Genotype SsYy

Metaphase of Meiosis I

Random alignment of homologous pairs on Metaphase plate

Exam 1 Slide 46

Following the rediscovery of Mendels work in 1900, researchers immediately saw parallels between Mendels laws of inheritance and the behavior of chromosomes during meiosis. Walter Sutton (1902) formally proposed the chromosomal theory of inheritance; were genes indeed located on chromosomes? Confirmed by T. H. Morgan in 1910 with demonstration of traits linked to sex chromosomes in fruit flies.

The Chromosomal Theory of Inheritance

Exam 1 Slide 47

Morgans Experimental Results

P
White-eyed male

X
Red-eyed female F1 female

X
White-eyed male

F1
Progeny all red-eyed 50% red, 50% white, both males and females!

F2

?
Females all red-eyed!

What the #$%^$# is going on here?

Males about half whiteeyed, half red-eyed!

Exam 1 Slide 48

Morgans Experiment
R = Red eye (dominant r = white eye (recessive)

XrY

XRXR
Both males and females have red eyes

XRY

XRXr
Males: 50% red eyes, 50% white eyes. Females: all red eyes.

XrY

XRY

XRXr

XRXR

Exam 1 Slide 49

Basic Mendelian Genetics: Essential Terminology

GeneThe basic unit of heredity; a sequence of DNA nucleotides that encodes a protein or RNA molecule. LocusSite on a chromosome occupied by a particular gene. AlleleAn alternative form of a particular gene. DiploidThe condition in which two sets of chromosomes are present in an individual (or cell); typically one set is derived from an individuals mother, the other from the father. HaploidThe condition in which only one set of chromosomes is present in an individual (or cell). HomozygoteA diploid individual that possesses two copies of the same allele at a particular gene locus. HeterozygoteA diploid individual that possesses two different alleles at a particular gene locus. DominantAn allele that has phenotypic effects in both the heterozygous and homozygous condition. RecessiveAn allele that has phenotypic effects only in the homozygous condition. MeiosisThe two successive nuclear divisions in which a single diploid cell forms four haploid nuclei and allelic segregation, crossing over, and independent assortment of homologous chromosomes occur.

Exam 1 Slide 50

Summary of Basic Mendelian Genetics

Mendels Laws: 1. Law of Segregation the two alleles of a gene separate during gamete formation. 2. Law of Independent Assortment pairs of alleles for different genes segregate independently of each other. Other principles: 1. Dominance: heterozygous phenotype = homozygous dominant phenotype 2. Only two distinct phenotypic classes for each trait (dominant and recessive). 3. One gene (one pair of alleles) controls one trait. 4. All genes are on chromosomes in the nucleus.

In many situations, one or more of these basic principles do not apply!

Exam 1 Slide 51

Chromosomal Sex Determination Systems I

X-Y System Mammals, fruit flies, other animals. Males heterogametic XY!

X-0 System Grasshoppers, crickets, cockroaches, other insects. Males hemizygous X0!

Exam 1 Slide 52

Chromosomal Sex Determination Systems II

Z-W System Birds, butterflies, some fishes. Females heterogametic ZW! Haplo-diploid System Bees, ants, wasps, some other animals. Males haploid and hatch from unfertilized eggs!

Exam 1 Slide 53

Sex-Linked Inheritance of Barred Plumage in Chickens

Exam 1 Slide 54

Environmental Sex Determination Systems

Temperature-dependent sex determination Turtles, alligators, some fishes. Temperature during development determines sex! Sequential hermaphroditism Many fish, some shrimp. Depending on environmental conditions, individuals may change sex during the course of their lifetime!

Exam 1 Slide 55

Summary of Basic Mendelian Genetics

Mendels Laws: 1. Law of Segregation the two alleles of a gene separate during gamete formation. 2. Law of Independent Assortment pairs of alleles for different genes segregate independently of each other. Other principles: 1. Dominance: heterozygous phenotype = homozygous dominant phenotype 2. Only two distinct phenotypic classes for each trait (dominant and recessive). 3. One gene (one pair of alleles) controls one trait. 4. All genes are on chromosomes in the nucleus.

In many situations, one or more of these basic principles do not apply!

Exam 1 Slide 56

Incomplete Dominance in Four Oclock Flowers

Eggs CR CW

CRCR

CR CRCR CRCW

Sperm CW F1 generation All CRCW C WC W

CRCW
F2 generation 1 2 1 CRCR CRCW C WC W

C WC W
1:2:1 Red Pink White

Exam 1 Slide 57

Codominance in M, N, and MN Blood Types of Humans

Two alleles in human population: LM and LN Homozygotes (Both LMLM and LNLN) produce only one type of glycoprotein on surface of red blood cells LMLN heterozygotes produce both types of glycoproteins on surface of red blood cells
Blood type M

Blood type MN

Blood type N

Exam 1 Slide 58

Multiple Alleles in the Human ABO Blood Groups

Possible alleles from female Three alleles present in human population: IA IA or IB or i IAi I Bi ii I AI B IBIB IBi IAIA or IB IAIB or i IAi Possible alleles from male

IA, IB, or i
IA and IB are codominant with respect to each other, but completely dominant over i

Blood types

AB

Exam 1 Slide 59

Inheritance of Yellow Coat Color in Mice

Parents

x
Yellow F1 Pure-breeding Wild Type (Agouti)

Half Yellow

Half Agouti

Exam 1 Slide 60

Inheritance of Yellow Coat Color in Mice

Parents

x
Y+ F1 ++

Half Y+

Half ++

1. Likely Interpretations: Yellow Coat Color Dominant to Wild Type. P and F1 Yellow Mice are Heterozygous Y+.

Exam 1 Slide 61

Inheritance of Yellow Coat Color in Mice

F1

x
Y+ Y+

F2

2. F2 results: Yellow:Wild Type ratio 2:1 (not 3:1)! Litter size only about 3/4 normal. Test crosses show that Yellow F2 all heterozygous!

Conclusions: Y allele produces both a dominant phenotype (yellow coat) and a recessive phenotype (early embryo mortality)!

Exam 1 Slide 62

Summary of Basic Mendelian Genetics

Mendels Laws: 1. Law of Segregation the two alleles of a gene separate during gamete formation. 2. Law of Independent Assortment pairs of alleles for different genes segregate independently of each other. Other principles: 1. Dominance: heterozygous phenotype = homozygous dominant phenotype 2. Only two distinct phenotypic classes for each trait (dominant and recessive). 3. One gene (one pair of alleles) controls one trait. 4. All genes are on chromosomes in the nucleus.

In many situations, one or more of these basic principles do not apply!

Exam 1 Slide 63

Epistasis and Anthocyanin Production in Corn

X White Strain A White Strain B

F1 generation All purple

Exam 1 Slide 64

Epistasis and Anthocyanin Production in Corn

Production of purple pigment anthocyanin is the result of a twostep process: Starting molecule
Enzyme Coded by Gene A
Eggs AB Ab aB ab X White (AAbb) White (aaBB)

F1 generation All purple (AaBb)

Intermediate molecule
Enzyme Coded by Gene B

AB AABB AABb AaBB AaBb Ab AABb AAbb AaBb Aabb Sperm aB AaBB AaBb aaBB aaBb ab AaBb Aabb aaBb aabb F2 generation 9/16 purple 7/16 white

Anthocyanin

Exam 1 Slide 65

Epistasis and Coat Coloration in Labrador Retrievers Two interacting loci: E locus (pigment in fur) B locus (darkness of pigment) ee E_ No dark pigment in fur Dark pigment in fur

Yellow Lab
E_bb
eebb eeB_ Yellow fur; Yellow fur; brown nose, black nose, lips, eye rims lips, eye rims Brown fur, nose, lips, eye rims

E_B_
Black fur, nose, lips, eye rims

Chocolate Lab Black Lab

Exam 1 Slide 66

Summary of Basic Mendelian Genetics

Mendels Laws: 1. Law of Segregation the two alleles of a gene separate during gamete formation. 2. Law of Independent Assortment pairs of alleles for different genes segregate independently of each other. Other principles: 1. Dominance: heterozygous phenotype = homozygous dominant phenotype 2. Only two distinct phenotypic classes for each trait (dominant and recessive). 3. One gene (one pair of alleles) controls one trait. 4. All genes are on chromosomes in the nucleus.

In many situations, one or more of these basic principles do not apply!

Exam 1 Slide 67

Maternal-Effect Inheritance of Shell Coiling in Snails

Phenotype (direction of coiling) reflects genotype (not phenotype) of mother!

Exam 1 Slide 68

Cytoplasmic (Maternal) Inheritance

Exam 1 Slide 69

Summary of Basic Mendelian Genetics

Mendels Laws: 1. Law of Segregation the two alleles of a gene separate during gamete formation. 2. Law of Independent Assortment pairs of alleles for different genes segregate independently of each other. Other principles: 1. Dominance: heterozygous phenotype = homozygous dominant phenotype 2. Only two distinct phenotypic classes for each trait (dominant and recessive). 3. One gene (one pair of alleles) controls one trait. 4. All genes are on chromosomes in the nucleus.

In many situations, one or more of these basic principles do not apply!

Exam 1 Slide 70

Dihybrid Test Cross in Drosophila Using black (b) and vestigial wings (vg): Independent Assortment?
Not 1:1:1:1!

Exam 1 Slide 71

Linkage and Production of Recombinant Gametes by a Dihybrid Female

F1 Female (Heterozygote)

Exam 1 Slide 72

Linkage and the Dihybrid Test Cross

Parental Gametes (many)

Recombinant Gametes (few)

Exam 1 Slide 73

Linkage and the Testcross Offspring

Parental Gametes

Recombinant Gametes

Exam 1 Slide 74

Consequences of Absence of Recombination in Male Drosophila: Complete Linkage in the Reciprocal Cross!

Male

Female

Half

Half

None!

None!

No crossing over in male fruit flies!

Exam 1 Slide 75

Linkage and the Testcross Offspring

Parental Gametes

Recombinant Gametes

Exam 1 Slide 76

Relationship Between Observed and Corrected Map Distances

Exam 1 Slide 77

Determining Gene Order with the Three-Point Test Cross

Three loci in the worm C. elegans: Dumpy, Uncoordinated, and Knobby
P F1 +++ / +++ +++ / duk x duk / duk x duk / duk Three-point test cross!

Which progeny are doubleProgeny: Wild type 410 crossovers? Dumpy, uncoordinated, knobby 392 The rarest forms: uncoordinated-knobby and Knobby 61 dumpy. Dumpy, uncoordinated 65 Which locus is in the middle? Dumpy! Uncoordinated, knobby 3 Dumpy 3 Map distance between D and U: (34 + 32 + 3 + 3)/1000 = 0.072 = 7.2% = 7.2 cM Uncoordinated 34 Dumpy, knobby 32 Map distance between D and K: (61 + 65 + 3 + 3)/1000 = 0.132 Total 1000 = 13.2% = 13.2 cM

Exam 1 Slide 78

Cystic fibrosis: autosomal recessive

Exam 1 Slide 79

The Royal Hemophilia Pedigree

George III Edward Duke of Kent Louis I Grand Duke of HesseI

Generation

Prince Albert

Queen Victoria

II Frederick Victoria III No hemophilia German Royal House

King Edward VII

Alice

Duke of Hesse

Alfred

Helena Arthur Leopold No hemophilia

Beatrice Prince Henry

III

King George V Irene Czar Nicholas II Czarina Earl of Princess Maurice Leopold Queen Alfonso Alexandra Athlone Alice Eugenie King of Spain ? Gonzalo

IV Duke of King Windsor George VI Earl of Waldemar Prince Henry Sigismond Mountbatten Prussian Royal House

? ? ? Anastasia Alexis Viscount Alfonso Jamie Juan Tremation Russian Royal House

V Queen Elizabeth II Prince Philip Margaret

?
King Juan Carlos No evidence of hemophilia No evidence of hemophilia

VI Princess Diana Prince Anne Andrew Edward Charles British Royal House VII William Henry

Spanish Royal House

Sex-linked recessive

Exam 1 Slide 80

Sex-linked Dominant: Hypophosphatemia

Exam 1 Slide 81

Karyotype of Individual with Trisomy 21: Down Syndrome

Fig. 13.35a

Exam 1 Slide 82

Incidence of Down syndrome per 1000 live births

25 20 15 10 5 0 20

Maternal Age and Incidence of Down Syndrome

25

30

35

40

45

Age of mother

Exam 1 Slide 83

Nondisjunction of the Sex Chromosomes

Female XX Nondisjunction
XX Eggs XO XXX Female Female X (Turner (Triple X syndrome) syndrome) Y OY XXY Male (Klinefelter Nonviable syndrome) O

Male

XY

Sperm

Exam 1 Slide 84

Burkitt Lymphoma
Caused by translocation (swapping) of small region of chromosomes 8 and 14. Translocation of gene c-myc to chromosome 14 disrupts its normal function in regulating cell growth, resulting in cancer.