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Chromosome Abnormalities Non-disjunction during meiosis can cause a gamete to have an extra chromosome Trisomy = three copies of the same chromosome. • Most are lethal before birth, but three of chromosome 21 causes Down syndrome.

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Page 1: Chromosome Abnormalities Non-disjunction during meiosis can cause a gamete to have an extra chromosome Trisomy = three copies of the same chromosome. Most

Chromosome Abnormalities

• Non-disjunction during meiosis can cause a gamete to have an extra chromosome

• Trisomy = three copies of the same chromosome.

• Most are lethal before birth, but three of chromosome 21 causes Down syndrome.

Page 2: Chromosome Abnormalities Non-disjunction during meiosis can cause a gamete to have an extra chromosome Trisomy = three copies of the same chromosome. Most

Trisomy of Chromosome 21

Page 3: Chromosome Abnormalities Non-disjunction during meiosis can cause a gamete to have an extra chromosome Trisomy = three copies of the same chromosome. Most

Chapter 10 DNA Replication and Expression

Page 4: Chromosome Abnormalities Non-disjunction during meiosis can cause a gamete to have an extra chromosome Trisomy = three copies of the same chromosome. Most

DNA (Deoxyribose Nucleic Acid)

• Polymer made of subunits called nucleotides• Nucleotides have three parts– Phosphate– Sugar (deoxyribose)– Nitrogen bases

Page 5: Chromosome Abnormalities Non-disjunction during meiosis can cause a gamete to have an extra chromosome Trisomy = three copies of the same chromosome. Most

Four Nitrogen bases of DNA (9.1)

• Adenine• Guanine• Cytosine• Thymine

Page 6: Chromosome Abnormalities Non-disjunction during meiosis can cause a gamete to have an extra chromosome Trisomy = three copies of the same chromosome. Most

DNA structure (Fig. 10-2)

• Double helix – James Watson and Francis Crick (Nobel Prize)– Two strands held together by hydrogen bonds

• Bases are paired up:– Adenine to Thymine– Cytosine to Guanine

• DNA is twisted (helix)

Page 7: Chromosome Abnormalities Non-disjunction during meiosis can cause a gamete to have an extra chromosome Trisomy = three copies of the same chromosome. Most
Page 8: Chromosome Abnormalities Non-disjunction during meiosis can cause a gamete to have an extra chromosome Trisomy = three copies of the same chromosome. Most

X Ray Crystallography of DNA (10.3)

Page 9: Chromosome Abnormalities Non-disjunction during meiosis can cause a gamete to have an extra chromosome Trisomy = three copies of the same chromosome. Most

• DNA wraps around proteins (histones) to form chromatin.

• Chromatin coils up into chromosomes.

DNA inside a Eukaryote

Page 10: Chromosome Abnormalities Non-disjunction during meiosis can cause a gamete to have an extra chromosome Trisomy = three copies of the same chromosome. Most

DNA is Replicated

• Parent DNA strands act as templates for new DNA

• Strands separate and new bases are added to each side

Page 11: Chromosome Abnormalities Non-disjunction during meiosis can cause a gamete to have an extra chromosome Trisomy = three copies of the same chromosome. Most

DNA replication (10.6)

Page 12: Chromosome Abnormalities Non-disjunction during meiosis can cause a gamete to have an extra chromosome Trisomy = three copies of the same chromosome. Most

• Helicase• DNA polymerase• Ligase

DNA replication requires three enzymes (10.7)

Page 13: Chromosome Abnormalities Non-disjunction during meiosis can cause a gamete to have an extra chromosome Trisomy = three copies of the same chromosome. Most

DNA Expression

Page 14: Chromosome Abnormalities Non-disjunction during meiosis can cause a gamete to have an extra chromosome Trisomy = three copies of the same chromosome. Most

Central Dogma of Molecular Biology: DNA RNA Protein

Page 15: Chromosome Abnormalities Non-disjunction during meiosis can cause a gamete to have an extra chromosome Trisomy = three copies of the same chromosome. Most

Flow of Genetic Information (10.8)

Page 16: Chromosome Abnormalities Non-disjunction during meiosis can cause a gamete to have an extra chromosome Trisomy = three copies of the same chromosome. Most

What is RNA?

• Ribose Nucleic Acid• Nucleic acid similar to DNA• Three important differences– Single strand– Sugar is Ribose– Uracil instead of Thymine

Page 17: Chromosome Abnormalities Non-disjunction during meiosis can cause a gamete to have an extra chromosome Trisomy = three copies of the same chromosome. Most

DNA contains information used to make proteins

• 95% of DNA sequence is meaningless or “junk”

• 5% that has information is contained in genes• Gene is a sequence of DNA that codes for a

protein

Page 18: Chromosome Abnormalities Non-disjunction during meiosis can cause a gamete to have an extra chromosome Trisomy = three copies of the same chromosome. Most

DNA to Protein (10.10)

Page 19: Chromosome Abnormalities Non-disjunction during meiosis can cause a gamete to have an extra chromosome Trisomy = three copies of the same chromosome. Most

How a gene produces a protein

• Genes are TRANSCRIBED into messenger RNA• mRNA goes to ribosomes for protein synthesis• Transfer RNA carries Amino Acids to be

assembled at the ribosomes• mRNA is TRANSLATED into proteins.

Page 20: Chromosome Abnormalities Non-disjunction during meiosis can cause a gamete to have an extra chromosome Trisomy = three copies of the same chromosome. Most

Transcription 10.13

Page 21: Chromosome Abnormalities Non-disjunction during meiosis can cause a gamete to have an extra chromosome Trisomy = three copies of the same chromosome. Most

Transfer RNA

Page 22: Chromosome Abnormalities Non-disjunction during meiosis can cause a gamete to have an extra chromosome Trisomy = three copies of the same chromosome. Most

So how do we know what the amino acid order will be?

Page 23: Chromosome Abnormalities Non-disjunction during meiosis can cause a gamete to have an extra chromosome Trisomy = three copies of the same chromosome. Most

A gene sequence is divide into groups of three (codons)

Page 24: Chromosome Abnormalities Non-disjunction during meiosis can cause a gamete to have an extra chromosome Trisomy = three copies of the same chromosome. Most

Codons on mRNA are recognized by tRNA

Page 25: Chromosome Abnormalities Non-disjunction during meiosis can cause a gamete to have an extra chromosome Trisomy = three copies of the same chromosome. Most

Each codon codes for an amino acid

Page 26: Chromosome Abnormalities Non-disjunction during meiosis can cause a gamete to have an extra chromosome Trisomy = three copies of the same chromosome. Most

How are codons read? (10.10)

Page 27: Chromosome Abnormalities Non-disjunction during meiosis can cause a gamete to have an extra chromosome Trisomy = three copies of the same chromosome. Most

Viral genetics

Page 28: Chromosome Abnormalities Non-disjunction during meiosis can cause a gamete to have an extra chromosome Trisomy = three copies of the same chromosome. Most

What about viruses?

• Viruses are nucleic acids surrounded by a protein capsule.

• Viruses invade host cells by injecting their DNA

• Viral DNA incorporates into the host cell’s genome ( Lysogenic Phase)

• Viruses use their DNA to force host cells to produce more viruses ( Lytic Phase)

• Viruses do not fit into the cell theory.

Page 29: Chromosome Abnormalities Non-disjunction during meiosis can cause a gamete to have an extra chromosome Trisomy = three copies of the same chromosome. Most

Phage Virus Cycles (10.26)

Page 30: Chromosome Abnormalities Non-disjunction during meiosis can cause a gamete to have an extra chromosome Trisomy = three copies of the same chromosome. Most

Mutations

• Mistakes in copying of DNA• Three types– Insertion – Deletion– Substitution

Page 31: Chromosome Abnormalities Non-disjunction during meiosis can cause a gamete to have an extra chromosome Trisomy = three copies of the same chromosome. Most

Consequences of mutations

• Most mutations are neutral – no noticeable effect on the protein

• Some mutations are deleterious– Genetic disorders – Cancer

• Some mutations may produce a “good” trait• In both cases a change in the bases changes

sequence of amino acids

Page 32: Chromosome Abnormalities Non-disjunction during meiosis can cause a gamete to have an extra chromosome Trisomy = three copies of the same chromosome. Most