At sexual maturity, the ovaries and testes produce haploid gametes Gametes are the only types of human cells produced by meiosis, rather than mitosis Meiosis

• At sexual maturity, the ovaries and testes produce haploid gametes

• Gametes are the only types of human cells produced by meiosis, rather than mitosis

• Meiosis results in one set of chromosomes in each gamete

• Fertilization and meiosis alternate in sexual life cycles to maintain chromosome number

Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Fig. 13-5Key

Haploid (n)Diploid (2n)

Haploid gametes (n = 23)

Egg (n)

Sperm (n)

MEIOSIS FERTILIZATION

Ovary Testis

Diploidzygote(2n = 46)

Mitosis anddevelopment

Multicellular diploidadults (2n = 46)

Crossing Over

• Crossing over produces recombinant chromosomes, which combine genes inherited from each parent

• Crossing over begins very early in prophase I, as homologous chromosomes pair up gene by gene


Fig. 13-12-5Prophase Iof meiosis

Pair ofhomologs

Nonsisterchromatidsheld togetherduring synapsis

Chiasma

Centromere

Anaphase I

Anaphase II

Daughtercells

Recombinant chromosomes

TEM

The Law of Segregation

• When Mendel crossed contrasting, true-breeding white and purple flowered pea plants, all of the F1 hybrids were purple

• When Mendel crossed the F1 hybrids, many of the F2 plants had purple flowers, but some had white

• Mendel discovered a ratio of about three to one, purple to white flowers, in the F2 generation


Fig. 14-3-3

EXPERIMENT

P Generation

(true-breeding parents) Purple

flowers Whiteflowers

F1 Generation

(hybrids) All plants hadpurple flowers

F2 Generation

705 purple-floweredplants

224 white-floweredplants

The Behavior of Recessive Alleles

• Recessively inherited disorders show up only in individuals homozygous for the allele

• Carriers are heterozygous individuals who carry the recessive allele but are phenotypically normal (i.e., pigmented)

• Albinism is a recessive condition characterized by a lack of pigmentation in skin and hair


Fig. 14-16

Parents

Normal Normal

Sperm

Eggs

Normal Normal(carrier)

Normal(carrier) Albino

Aa Aa

A

AAA

Aa

a

Aaaa

a

Inheritance of Sex-Linked Genes

• The sex chromosomes have genes for many characters unrelated to sex

• A gene located on either sex chromosome is called a sex-linked gene

• In humans, sex-linked usually refers to a gene on the larger X chromosome


Fig. 15-7

(a) (b) (c)

XNXN XnY XNXn XNY XNXn XnY

YXnSpermYXNSpermYXnSperm

XNXnEggs XN

XN XNXn

XNY

XNY

Eggs XN

Xn

XNXN

XnXN

XNY

XnY

Eggs XN

Xn

XNXn

XnXn

XNY

XnY

• Genes that are far apart on the same chromosome can have a recombination frequency near 50%

• Such genes are physically linked, but genetically unlinked, and behave as if found on different chromosomes


Fig. 15-12Mutant phenotypes

Shortaristae

Blackbody

Cinnabareyes

Vestigialwings

Browneyes

Redeyes

Normalwings

Redeyes

Graybody

Long aristae(appendageson head)

Wild-type phenotypes

0 48.5 57.5 67.0 104.5

Alterations of Chromosome Structure

• Breakage of a chromosome can lead to four types of changes in chromosome structure:– Deletion removes a chromosomal segment– Duplication repeats a segment– Inversion reverses a segment within a chromosome– Translocation moves a segment from one

chromosome to another


Fig. 15-15

DeletionA B C D E F G H A B C E F G H(a)

(b)

(c)

(d)

Duplication

Inversion

Reciprocaltranslocation

A B C D E F G H

A B C D E F G H

A B C D E F G H

A B C B C D E F G H

A D C B E F G H

M N O C D E F G H

M N O P Q R A B P Q R

The Basic Principle: Base Pairing to a Template Strand

• Since the two strands of DNA are complementary, each strand acts as a template for building a new strand in replication

• In DNA replication, the parent molecule unwinds, and two new daughter strands are built based on base-pairing rules


Animation: DNA Replication OverviewAnimation: DNA Replication Overview

Fig. 16-11EXPERIMENT

RESULTS

CONCLUSION

1 2

43

Conservative model

Semiconservative model

Dispersive model

Bacteria cultured in medium containing 15N

Bacteria transferred to medium containing 14NDNA

sample centrifuged after 20 min (after first application)

DNA sample centrifuged after 40 min (after second replication)

More dense

Less dense

Second replication

First replication

Antiparallel Elongation

• The antiparallel structure of the double helix (two strands oriented in opposite directions) affects replication

• DNA polymerases add nucleotides only to the free 3end of a growing strand; therefore, a new DNA strand can elongate only in the 5to3direction


Fig. 16-17

OverviewOrigin of replicationLeading strand

Leading strand

Lagging strand

Lagging strandOverall

directions of

replicationLeading strand

Lagging strand

Helicase

Parental DNA

DNA pol III

PrimerPrimase

DNA ligase

DNA pol IIIDNA pol I

Single-strand

binding protein

53

5

55

5

3

3

33

13 2

4

• Eukaryotic chromosomal DNA molecules have at their ends nucleotide sequences called telomeres

• Telomeres do not prevent the shortening of DNA molecules, but they do postpone the erosion of genes near the ends of DNA molecules

• It has been proposed that the shortening of telomeres is connected to aging

• If chromosomes of germ cells became shorter in every cell cycle, essential genes would eventually be missing from the gametes they produce

• An enzyme called telomerase catalyzes the lengthening of telomeres in germ cells


Fig. 16-20

1 µm

Evolution of Cell Signaling

• A signal transduction pathway is a series of steps by which a signal on a cell’s surface is converted into a specific cellular response

• Signal transduction pathways convert signals on a cell’s surface into cellular responses

Copyright © 2008 Pearson Education, Inc., publishing as Pearson Benjamin Cummings

Fig. 11-2

Receptor factor

a factor

a

a

Exchangeof matingfactors

Yeast cell,mating type a

Yeast cell,mating type

Mating

New a/cell

a/

1

2

3

Local and Long-Distance Signaling

• Cells in a multicellular organism communicate by chemical messengers

• Animal and plant cells have cell junctions that directly connect the cytoplasm of adjacent cells

• In local signaling, animal cells may communicate by direct contact, or cell-cell recognition

Copyright © 2008 Pearson Education, Inc., publishing as Pearson Benjamin Cummings

Fig. 11-4Plasma membranes

Gap junctionsbetween animal cells

(a) Cell junctions

Plasmodesmatabetween plant cells

(b) Cell-cell recognition

• During transcription, one of the two DNA strands called the template strand provides a template for ordering the sequence of nucleotides in an RNA transcript

• During translation, the mRNA base triplets, called codons, are read in the 5 to 3 direction

• Each codon specifies the amino acid to be placed at the corresponding position along a polypeptide


Fig. 17-4

DNAmolecule

Gene 1

Gene 2

Gene 3

DNAtemplatestrand

TRANSCRIPTION

TRANSLATION

mRNA

Protein

Codon

Amino acid

Split Genes and RNA Splicing

• Most eukaryotic genes and their RNA transcripts have long noncoding stretches of nucleotides that lie between coding regions

• These noncoding regions are called intervening sequences, or introns

• The other regions are called exons because they are eventually expressed, usually translated into amino acid sequences

• RNA splicing removes introns and joins exons, creating an mRNA molecule with a continuous coding sequence


Fig. 17-10

Pre-mRNA

mRNA

Codingsegment

Introns cut out andexons spliced together

5 Cap

Exon Intron5

1 30 31 104

Exon Intron

105

Exon

146

3Poly-A tail

Poly-A tail5 Cap

5 UTR 3 UTR1 146

Histone Modifications

• In histone acetylation, acetyl groups are attached to positively charged lysines in histone tails

• This process loosens chromatin structure, thereby promoting the initiation of transcription

• The addition of methyl groups (methylation) can condense chromatin; the addition of phosphate groups (phosphorylation) next to a methylated amino acid can loosen chromatin

Animation: DNA PackingAnimation: DNA Packing

Fig. 18-7

Histonetails

DNAdouble helix

(a) Histone tails protrude outward from a nucleosome

Acetylated histones

Aminoacidsavailablefor chemicalmodification

(b) Acetylation of histone tails promotes loose chromatin structure that permits transcription

Unacetylated histones

Protein Processing and Degradation

• After translation, various types of protein processing, including cleavage and the addition of chemical groups, are subject to control

• Proteasomes are giant protein complexes that bind protein molecules and degrade them

Animation: Protein DegradationAnimation: Protein Degradation

Animation: Protein ProcessingAnimation: Protein Processing

Fig. 18-12

Proteasomeand ubiquitinto be recycledProteasome

Proteinfragments(peptides)Protein entering a

proteasome

Ubiquitinatedprotein

Protein tobe degraded

Ubiquitin

Epigenetic Inheritance

• Although the chromatin modifications just discussed do not alter DNA sequence, they may be passed to future generations of cells

• The inheritance of traits transmitted by mechanisms not directly involving the nucleotide sequence is called epigenetic inheritance

The Lytic Cycle

• The lytic cycle is a phage reproductive cycle that culminates in the death of the host cell

• The lytic cycle produces new phages and digests the host’s cell wall, releasing the progeny viruses

• A phage that reproduces only by the lytic cycle is called a virulent phage

• Bacteria have defenses against phages, including restriction enzymes that recognize and cut up certain phage DNA

Animation: Phage T4 Lytic CycleAnimation: Phage T4 Lytic Cycle

Fig. 19-5-5

Phage assembly

Head Tail Tail fibers

Assembly

Release

Synthesis of viralgenomes andproteins

Entry of phageDNA anddegradation ofhost DNA

Attachment1

2

4

5

3

The Lysogenic Cycle

• The lysogenic cycle replicates the phage genome without destroying the host

• The viral DNA molecule is incorporated into the host cell’s chromosome

• This integrated viral DNA is known as a prophage• Every time the host divides, it copies the phage

DNA and passes the copies to daughter cells

Animation: Phage Lambda Lysogenic and Lytic CyclesAnimation: Phage Lambda Lysogenic and Lytic Cycles

Fig. 19-6

PhageDNA

Phage

The phage injects its DNA.

Bacterialchromosome

Phage DNAcircularizes.

Daughter cellwith prophage

Occasionally, a prophageexits the bacterialchromosome,initiating a lytic cycle.

Cell divisionsproducepopulation ofbacteria infectedwith the prophage.

The cell lyses, releasing phages.

Lytic cycle

Lytic cycleis induced or Lysogenic cycle

is entered

Lysogenic cycle

Prophage

The bacterium reproduces,copying the prophage andtransmitting it to daughter cells.

Phage DNA integrates intothe bacterial chromosome,becoming a prophage.

New phage DNA and proteinsare synthesized andassembled into phages.

DNA Cloning and Its Applications• Most methods for cloning pieces of DNA in the

laboratory share general features, such as the use of bacteria and their plasmids

• Plasmids are small circular DNA molecules that replicate separately from the bacterial chromosome

• Cloned genes are useful for making copies of a particular gene and producing a protein product

Fig. 20-2a

DNA of chromosome

Cell containing geneof interest

Gene inserted intoplasmid

Plasmid put intobacterial cell

RecombinantDNA (plasmid)

Recombinantbacterium

Bacterialchromosome

Bacterium

Gene ofinterest

Plasmid

2

1

2

Using Restriction Enzymes to Make Recombinant DNA

• Bacterial restriction enzymes cut DNA molecules at specific DNA sequences called restriction sites

• A restriction enzyme usually makes many cuts, yielding restriction fragments

• The most useful restriction enzymes cut DNA in a staggered way, producing fragments with “sticky ends” that bond with complementary sticky ends of other fragments

Animation: Restriction EnzymesAnimation: Restriction Enzymes

Fig. 20-4-4

Bacterial cell

Bacterial plasmid

lacZ gene

Hummingbird cell

Gene of interest

Hummingbird DNA fragments

Restrictionsite

Stickyends

ampR gene

TECHNIQUE

Recombinant plasmids

Nonrecombinant plasmid

Bacteria carryingplasmids

RESULTS

Colony carrying non-recombinant plasmidwith intact lacZ gene

One of manybacterialclones

Colony carrying recombinant plasmid with disrupted lacZ gene

Amplifying DNA in Vitro: The Polymerase Chain Reaction (PCR)

• The polymerase chain reaction, PCR, can produce many copies of a specific target segment of DNA

• A three-step cycle—heating, cooling, and replication—brings about a chain reaction that produces an exponentially growing population of identical DNA molecules

Fig. 20-8a

5

Genomic DNA

TECHNIQUETargetsequence

3

3 5

• Host cells in culture can be engineered to secrete a protein as it is made

• This is useful for the production of insulin, human growth hormones, and vaccines

Protein Production in Cell Cultures

• Transgenic animals are made by introducing genes from one species into the genome of another animal

• Transgenic animals are pharmaceutical “factories,” producers of large amounts of otherwise rare substances for medical use

• “Pharm” plants are also being developed to make human proteins for medical use

Protein Production by “Pharm” Animals and Plants

Movement of Transposons and Retrotransposons

• Eukaryotic transposable elements are of two types:– Transposons, which move within a genome by

means of a DNA intermediate– Retrotransposons, which move by means of an RNA

intermediate

Fig. 21-9

TransposonNew copy of transposon

Insertion

Transposonis copied

Mobile transposon

DNA ofgenome

(a) Transposon movement (“copy-and-paste” mechanism)

RetrotransposonNew copy of

retrotransposon

Insertion

Reversetranscriptase

RNA

(b) Retrotransposon movement

Widespread Conservation of Developmental Genes Among Animals

• Molecular analysis of the homeotic genes in Drosophila has shown that they all include a sequence called a homeobox

• An identical or very similar nucleotide sequence has been discovered in the homeotic genes of both vertebrates and invertebrates

• Homeobox genes code for a domain that allows a protein to bind to DNA and to function as a transcription regulator

• Homeotic genes in animals are called *Hox genes*

Fig. 21-17

Adultfruit fly

Fruit fly embryo(10 hours)

Flychromosome

Mousechromosomes

Mouse embryo(12 days)

Adult mouse

• Unit 3C13 21 & 22, 75&81C14 12&15, 77&78C15 27&29, 52&54, 64&65, C16 33&41, 56&71 77/79&78C17 23&25, 49&50, C18 29&30, 33 (example epigentetics) 54&55C19 21&26, 27&29 C20 6&9, 11&22 42&44, 96&97C21 41& 42, 82&83

Documents

At sexual maturity, the ovaries and testes produce haploid gametes Gametes are the only types of human cells produced by meiosis, rather than mitosis Meiosis