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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
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Fig. 13-5 Key Haploid (n) Diploid (2n) Haploid gametes (n = 23) Egg (n) Sperm (n) MEIOSISFERTILIZATION Ovary Testis Diploid zygote (2n = 46) Mitosis and development Multicellular diploid adults (2n = 46)
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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 Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
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Fig. 13-12-5 Prophase I of meiosis Pair of homologs Nonsister chromatids held together during synapsis Chiasma Centromere Anaphase I Anaphase II Daughter cells Recombinant chromosomes TEM
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The Law of Segregation When Mendel crossed contrasting, true-breeding white and purple flowered pea plants, all of the F 1 hybrids were purple When Mendel crossed the F 1 hybrids, many of the F 2 plants had purple flowers, but some had white Mendel discovered a ratio of about three to one, purple to white flowers, in the F 2 generation Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
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Fig. 14-3-3 EXPERIMENT P Generation (true-breeding parents) Purple flowers White flowers F 1 Generation (hybrids) All plants had purple flowers F 2 Generation 705 purple-flowered plants 224 white-flowered plants
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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 Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
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Fig. 14-16 Parents Normal Sperm Eggs Normal (carrier) Normal (carrier) Albino Aa A A AA Aa a aa a
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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 Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
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Fig. 15-7 (a)(b) (c) XNXNXNXN XnYXnY XNXnXNXn XNYXNY XNXnXNXn XnYXnY Y XnXn Sperm Y XNXN Y XnXn XNXnXNXn Eggs XNXN XNXN XNXnXNXn XNYXNY XNYXNY XNXN XnXn XNXNXNXN XnXNXnXN XNYXNY XnYXnY XNXN XnXn XNXnXNXn XnXnXnXn XNYXNY XnYXnY
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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 Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
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Fig. 15-12 Mutant phenotypes Short aristae Black body Cinnabar eyes Vestigial wings Brown eyes Red eyes Normal wings Red eyes Gray body Long aristae (appendages on head) Wild-type phenotypes 048.557.567.0104.5
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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 Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
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Fig. 15-15 Deletion A B C D E F G HA B C E F G H (a) (b) (c) (d) Duplication Inversion Reciprocal translocation 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 RA B P Q R
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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 Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings Animation: DNA Replication Overview Animation: DNA Replication Overview
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Fig. 16-11 EXPERIMENT RESULTS CONCLUSION 1 2 4 3 Conservati ve model Semiconser vative model Dispersive model Bacteri a culture d in mediu m contai ning 15 N Bacteria transferr ed to medium containin g 14 N DNA sample centrifug ed after 20 min (after first applicati on) DNA sample centrifug ed after 40 min (after second replicatio n) Mor e den se Less dens e Second replication First replication
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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 3 end of a growing strand; therefore, a new DNA strand can elongate only in the 5 to 3 direction Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
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Fig. 16-17 Overview Origin of replication Leading strand Lagging strand Overall directions of replication Leading strand Lagging strand Helicase Parental DNA DNA pol III PrimerPrimase DNA ligase DNA pol III DNA pol I Single- strand binding protein 5 3 5 5 5 5 3 3 3 3 1 3 2 4
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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 Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
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Fig. 16-20 1 µm
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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
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Fig. 11-2 Receptor factor a factor a a Exchange of mating factors Yeast cell, mating type a Yeast cell, mating type Mating New a/ cell a/ 1 2 3
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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
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Fig. 11-4 Plasma membranes Gap junctions between animal cells (a) Cell junctions Plasmodesmata between plant cells (b) Cell-cell recognition
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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 Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
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Fig. 17-4 DNA molecule Gene 1 Gene 2 Gene 3 DNA template strand TRANSCRIPTION TRANSLATION mRNA Protein Codon Amino acid
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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 Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
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Fig. 17-10 Pre-mRNA mRNA Coding segment Introns cut out and exons spliced together 5 Cap Exon Intron 5 1 30 31104 ExonIntron 105 Exon 146 3 Poly-A tail 5 Cap 5 UTR3 UTR 1 146
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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 Packing Animation: DNA Packing
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Fig. 18-7 Histone tails DNA double helix (a) Histone tails protrude outward from a nucleosome Acetylated histones Amino acids available for chemical modification (b) Acetylation of histone tails promotes loose chromatin structure that permits transcription Unacetylated histones
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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 Degradation Animation: Protein Degradation Animation: Protein Processing Animation: Protein Processing
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Fig. 18-12 Proteasome and ubiquitin to be recycled Proteasome Protein fragments (peptides) Protein entering a proteasome Ubiquitinated protein Protein to be degraded Ubiquitin
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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
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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 Cycle Animation: Phage T4 Lytic Cycle
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Fig. 19-5-5 Phage assembly HeadTailTail fibers Assembly Release Synthesis of viral genomes and proteins Entry of phage DNA and degradation of host DNA Attachment 1 2 4 5 3
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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 Cycles Animation: Phage Lambda Lysogenic and Lytic Cycles
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Fig. 19-6 Phage DNA Phage The phage injects its DNA. Bacterial chromosome Phage DNA circularizes. Daughter cell with prophage Occasionally, a prophage exits the bacterial chromosome, initiating a lytic cycle. Cell divisions produce population of bacteria infected with the prophage. The cell lyses, releasing phages. Lytic cycle is induced or Lysogenic cycle is entered Lysogenic cycle Prophage The bacterium reproduces, copying the prophage and transmitting it to daughter cells. Phage DNA integrates into the bacterial chromosome, becoming a prophage. New phage DNA and proteins are synthesized and assembled into phages.
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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
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Fig. 20-2a DNA of chromosome Cell containing gene of interest Gene inserted into plasmid Plasmid put into bacterial cell Recombinant DNA (plasmid) Recombinant bacterium Bacterial chromosome Bacterium Gene of interest Plasmid 2 1 2
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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 Enzymes Animation: Restriction Enzymes
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Fig. 20-4-4 Bacterial cell Bacterial plasmid lacZ gene Hummingbird cell Gene of interest Hummingbird DNA fragments Restriction site Sticky ends amp R gene TECHNIQUE Recombinant plasmids Nonrecombinant plasmid Bacteria carrying plasmids RESULTS Colony carrying non- recombinant plasmid with intact lacZ gene One of many bacterial clones Colony carrying recombinant plasmid with disrupted lacZ gene
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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
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Fig. 20-8a 5 Genomic DNA TECHNIQUE Target sequence 3 3 5
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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
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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
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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
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Fig. 21-9 Transposon New copy of transposon Insertion Transposon is copied Mobile transposon DNA of genome (a) Transposon movement (“copy-and-paste” mechanism) Retrotransposon New copy of retrotransposon Insertion Reverse transcriptase RNA (b) Retrotransposon movement
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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*
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Fig. 21-17 Adult fruit fly Fruit fly embryo (10 hours) Fly chromosome Mouse chromosomes Mouse embryo (12 days) Adult mouse
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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
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