8.7 – Mutations. Key Concept Mutations are changes in DNA that may or may not affect phenotype....

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8.7 – 8.7 – Mutations Mutations

Transcript of 8.7 – Mutations. Key Concept Mutations are changes in DNA that may or may not affect phenotype....

Page 1: 8.7 – Mutations. Key Concept Mutations are changes in DNA that may or may not affect phenotype. mutated base.

8.7 – Mutations8.7 – Mutations

Page 2: 8.7 – Mutations. Key Concept Mutations are changes in DNA that may or may not affect phenotype. mutated base.

Key ConceptMutations are changes in DNA that may or may

not affect phenotype.

mutatedbase

Page 3: 8.7 – Mutations. Key Concept Mutations are changes in DNA that may or may not affect phenotype. mutated base.

What Are Mutations?What Are Mutations?

Changes in the nucleotide sequence of DNA

May occur in somatic cells (aren’t passed to offspring)

May occur in gametes (eggs & sperm) and be passed to offspring

Page 4: 8.7 – Mutations. Key Concept Mutations are changes in DNA that may or may not affect phenotype. mutated base.

Are Mutations Helpful or Harmful?

Mutations happen regularly

Almost all mutations are neutral

Chemicals & UV radiation cause mutationsMutagens are anything in the environment that can cause mutations

Many mutations are repaired by enzymes

Page 5: 8.7 – Mutations. Key Concept Mutations are changes in DNA that may or may not affect phenotype. mutated base.

Are Mutations Helpful or Harmful?

Some types of skin cancers and leukemia result from somatic mutations

Some mutations may improve an organism’s survival (beneficial)

Page 6: 8.7 – Mutations. Key Concept Mutations are changes in DNA that may or may not affect phenotype. mutated base.

Types of Mutations

Page 7: 8.7 – Mutations. Key Concept Mutations are changes in DNA that may or may not affect phenotype. mutated base.

Chromosome Mutations

May Involve:Changing the structure of a chromosome

Loss or gain of part of the chromosome

Page 8: 8.7 – Mutations. Key Concept Mutations are changes in DNA that may or may not affect phenotype. mutated base.

Chromosome Mutations

Five types exist:DeletionInversionTranslocationNondisjunctionDuplication

Page 9: 8.7 – Mutations. Key Concept Mutations are changes in DNA that may or may not affect phenotype. mutated base.

Deletion

Due to breakage

A piece of a chromosome is lost

Page 10: 8.7 – Mutations. Key Concept Mutations are changes in DNA that may or may not affect phenotype. mutated base.

Inversion

Chromosome segment breaks off

Segment flips around backwards

Segment reattaches

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Duplication

Occurs when a gene sequence is repeated

Page 12: 8.7 – Mutations. Key Concept Mutations are changes in DNA that may or may not affect phenotype. mutated base.

TranslocationInvolves two chromosomes that aren‘t homologous

Part of one chromosome is transferred to another chromosome

Page 13: 8.7 – Mutations. Key Concept Mutations are changes in DNA that may or may not affect phenotype. mutated base.
Page 14: 8.7 – Mutations. Key Concept Mutations are changes in DNA that may or may not affect phenotype. mutated base.

Nondisjunction

Failure of chromosomes to separate during meiosis

Causes gamete to have too many or too few chromosomes

Page 15: 8.7 – Mutations. Key Concept Mutations are changes in DNA that may or may not affect phenotype. mutated base.

NondisjunctionCan cause “Trisomy” (three copies of

the same chromosome in an egg or sperm)Trisomy 21 (Down syndrome)

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Chromosome Mutation Animation

Page 17: 8.7 – Mutations. Key Concept Mutations are changes in DNA that may or may not affect phenotype. mutated base.
Page 18: 8.7 – Mutations. Key Concept Mutations are changes in DNA that may or may not affect phenotype. mutated base.

Gene MutationsChange in the nucleotide sequence of a gene

May only involve a single nucleotide

May be due to copying errors, chemicals, viruses, etc.

Page 19: 8.7 – Mutations. Key Concept Mutations are changes in DNA that may or may not affect phenotype. mutated base.

Types of Gene Mutations

Include:Point MutationsSubstitutionsInsertionsDeletionsInversionsFrameshift

Similar to the chromosomal versions of these mutations

Page 20: 8.7 – Mutations. Key Concept Mutations are changes in DNA that may or may not affect phenotype. mutated base.

Point Mutation

Change of a single nucleotide

Includes the deletion, insertion, or substitution of ONE nucleotide in a gene

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Point Mutation

Sickle Cell disease is the result of one nucleotide substitution

Occurs in the hemoglobin gene

Page 22: 8.7 – Mutations. Key Concept Mutations are changes in DNA that may or may not affect phenotype. mutated base.

Nonsense MutationType of point mutation

Results in a premature stop codon and usually a nonfunctional protein

Page 23: 8.7 – Mutations. Key Concept Mutations are changes in DNA that may or may not affect phenotype. mutated base.

Frameshift Mutation

Inserting or deleting one or more nucleotides

Changes the “reading frame” like changing a sentence

Proteins built incorrectly

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Frameshift Mutation

Original:The fat cat ate the wee rat.

Frame Shift (“a” added): The fat caa tat eth ewe era t.

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Amino Acid Sequence Changed

Page 26: 8.7 – Mutations. Key Concept Mutations are changes in DNA that may or may not affect phenotype. mutated base.

Gene Mutation Animation

Page 27: 8.7 – Mutations. Key Concept Mutations are changes in DNA that may or may not affect phenotype. mutated base.

Silent Mutations

Some mutations have no effect and are called “silent”Example:GUC changed to

GUGBoth code for the

amino acidvaline

This would not affect the proteinbeing made in any way

Page 28: 8.7 – Mutations. Key Concept Mutations are changes in DNA that may or may not affect phenotype. mutated base.

Mutations may or may not affect phenotype.Chromosomal mutations tend to have a big

effect.

Some gene mutations change phenotype by:causing a premature stop codon.causing a change in protein shape or the active

site.causing a change in gene regulation.

Page 29: 8.7 – Mutations. Key Concept Mutations are changes in DNA that may or may not affect phenotype. mutated base.

Some gene mutations do not affect phenotype.

A mutation may be silent because….

– It occurs in a non-coding region.

– It may not affect protein folding or the active site.


Unit 6 DNA ppt 3 - Liberty Union High School District · Unit 6 DNA ppt 3 Gene Expression and Mutations Chapter 8.6 & 8.7 pg 248-255

Unit 6 DNA ppt 3 - Liberty Union High School District · Unit 6 DNA ppt 3 Gene Expression and Mutations Chapter 8.6 & 8.7 pg 248-255

CYCLOLAB Ltd.Niemann-Pick, type C (NPC) • The mutations of NPC1 and NPC2 genes are associated with NPC. • NPC differs from the other types, the protein product of the major mutated

CYCLOLAB Ltd.Niemann-Pick, type C (NPC) • The mutations of NPC1 and NPC2 genes are associated with NPC. • NPC differs from the other types, the protein product of the major mutated

 · Web viewThe clinical outcome of LMNA missense mutations appears to be associated with the amount of mutated protein in the nuclear envelope. Rasha …

 · Web viewThe clinical outcome of LMNA missense mutations appears to be associated with the amount of mutated protein in the nuclear envelope. Rasha …

Ataxia- telangiectasia Mutated (ATM) Brooke Register.

Ataxia- telangiectasia Mutated (ATM) Brooke Register.

Noise-mean relationship in mutated promoterszhanglab/clubPaper/10_12_2012.pdf · explained by mutations in the TATA box, or by an insertion of an out-of-frame translation start site.

Noise-mean relationship in mutated promoterszhanglab/clubPaper/10_12_2012.pdf · explained by mutations in the TATA box, or by an insertion of an out-of-frame translation start site.

Bcr-Abl Kinase Domain Mutations - Leukemia Net · • The major causes of resistance are BCR-ABL mutations and clonal evolution. • The impact of early detection of mutated clones

Bcr-Abl Kinase Domain Mutations - Leukemia Net · • The major causes of resistance are BCR-ABL mutations and clonal evolution. • The impact of early detection of mutated clones

Gene Expression and Control Chapter 7 Part 2. 7.6 Mutated Genes and Their Products Mutations are permanent changes in the nucleotide sequence of DNA,

Gene Expression and Control Chapter 7 Part 2. 7.6 Mutated Genes and Their Products Mutations are permanent changes in the nucleotide sequence of DNA,

Genetic Mutations · Person must inherit two copies of mutated gene to inherit disorder Two genetically similar adults are more likely to give a child two copies of a defective gene

Genetic Mutations · Person must inherit two copies of mutated gene to inherit disorder Two genetically similar adults are more likely to give a child two copies of a defective gene

8.5 Translation Set up Cornell Notes on pg. 11 Topic: 8.7 Mutations Essential Question: 1.Explain why a frameshift mutation has a greater effect than do.

8.5 Translation Set up Cornell Notes on pg. 11 Topic: 8.7 Mutations Essential Question: 1.Explain why a frameshift mutation has a greater effect than do.

Research Paper The somatic mutation landscape of Chinese ...Significantly mutated genes analysis We analyzed mutations with significantly mutated genes (SMGs) test based on tumor samples

Research Paper The somatic mutation landscape of Chinese ...Significantly mutated genes analysis We analyzed mutations with significantly mutated genes (SMGs) test based on tumor samples

Quantitative Detection of Ultraviolet-specific p53 ... · suppressor gene, p53, is the most often mutated gene in NMSC (3, 13-15). The mutations occur mainly at dipyrimidine sites

Quantitative Detection of Ultraviolet-specific p53 ... · suppressor gene, p53, is the most often mutated gene in NMSC (3, 13-15). The mutations occur mainly at dipyrimidine sites

Prostate Cancer Genes - PCF · 2020. 1. 7. · prostate cancer—similar to women with BRCA mutations who can opt for prophylactic mastectomies. BRCA Before the discovery of the mutated

Prostate Cancer Genes - PCF · 2020. 1. 7. · prostate cancer—similar to women with BRCA mutations who can opt for prophylactic mastectomies. BRCA Before the discovery of the mutated

Ataxia Telangiectasia Mutated Kinase Controls Chronic

Ataxia Telangiectasia Mutated Kinase Controls Chronic

THE ROLE OF CFTR MUTATIONS IN CAUSING …...•Every person with cystic fibrosis inherited two mutated CF-causing genes which together form THE ROLE OF CFTR IN CFSummary CFTR CFTR

THE ROLE OF CFTR MUTATIONS IN CAUSING …...•Every person with cystic fibrosis inherited two mutated CF-causing genes which together form THE ROLE OF CFTR IN CFSummary CFTR CFTR

EGFR-mutated lung cancer: a paradigm of molecular oncology · 2017. 5. 30. · mutations in the kinase domain A tandem kinase duplication in the tyrosine kinase domain has been described

EGFR-mutated lung cancer: a paradigm of molecular oncology · 2017. 5. 30. · mutations in the kinase domain A tandem kinase duplication in the tyrosine kinase domain has been described

Mutation-Specifi c RAS Oncogenicity Explains NRAS Codon 61 ... · NRAS is by far the most frequently mutated RAS isoform, and notably, 84% of these mutations localize to codon 61

Mutation-Specifi c RAS Oncogenicity Explains NRAS Codon 61 ... · NRAS is by far the most frequently mutated RAS isoform, and notably, 84% of these mutations localize to codon 61

KRAS mutations are negatively correlated with immunity in ... › pdf › 5fa17a9e… · the KRAS-mutated group had higher tumor purity, lower immune score, and lower stromal score

KRAS mutations are negatively correlated with immunity in ... › pdf › 5fa17a9e… · the KRAS-mutated group had higher tumor purity, lower immune score, and lower stromal score

Types of mutations Mutations: Mutations: protein level ...guralnl/441Mutations and the phenotype.pdf · Mutations and the phenotype • Types of mutations • Agents of mutations

Types of mutations Mutations: Mutations: protein level ...guralnl/441Mutations and the phenotype.pdf · Mutations and the phenotype • Types of mutations • Agents of mutations

DISCOVERY OF MUTATED SUBNETWORKS …psb.stanford.edu/psb-online/proceedings/psb12/vandin.pdf · Somatic mutations in cancer are typically very diverse, and are found in di erent sets

DISCOVERY OF MUTATED SUBNETWORKS …psb.stanford.edu/psb-online/proceedings/psb12/vandin.pdf · Somatic mutations in cancer are typically very diverse, and are found in di erent sets

Chapter 8 Section 8.7: Mutations. Objectives SWBAT distinguish between different types of mutations. SWBAT explain why mutations may or may not affect.

Chapter 8 Section 8.7: Mutations. Objectives SWBAT distinguish between different types of mutations. SWBAT explain why mutations may or may not affect.