Protein SynthesisProtein Synthesis

Mutations and Genetic Mutations and Genetic DisordersDisorders

Standards:Standards:

BI4. c. BI4. c. Students know Students know how mutations in the DNA how mutations in the DNA sequence of a gene may or may not affect the sequence of a gene may or may not affect the expression of the gene or the sequence of expression of the gene or the sequence of amino acids in an encoded protein.amino acids in an encoded protein.

BI5. c. BI5. c. Students know Students know how genetic engineering how genetic engineering (biotechnology) is used to produce novel (biotechnology) is used to produce novel biomedical and agricultural products.biomedical and agricultural products.

BI5. a. Students know the general structures and BI5. a. Students know the general structures and functions of DNA, RNA, and protein. functions of DNA, RNA, and protein.

Objectives:Objectives:

explain the genetic factors that influence the way we look.explain the genetic factors that influence the way we look.recognize that DNA contains the genetic information that determines recognize that DNA contains the genetic information that determines the way we look. the way we look. explain the structure and function of DNA, RNA, and proteins.explain the structure and function of DNA, RNA, and proteins.predict the physical characteristics of an organism based on its predict the physical characteristics of an organism based on its genetic make up.genetic make up.understand the general pathway by which ribosomes make proteins.understand the general pathway by which ribosomes make proteins.explain the causes of gene and chromosomal mutations in explain the causes of gene and chromosomal mutations in multicellular organisms.multicellular organisms.understand how changes in DNA sequences can cause understand how changes in DNA sequences can cause changes in the proteins that are produced.changes in the proteins that are produced.

Review-What is the central dogma?Review-What is the central dogma?

The central dogma describes the flow of The central dogma describes the flow of information from DNA to RNA to proteins.information from DNA to RNA to proteins.

Review-How does your DNA Review-How does your DNA determine what you look like at the determine what you look like at the

molecular level?molecular level?Your Your traitstraits are determined by your DNA are determined by your DNA because your DNA has codes/instructions because your DNA has codes/instructions for your traits called for your traits called genesgenes. Genes contain . Genes contain the codes for the codes for proteinsproteins, which make-up , which make-up many structures such as your fingernails, many structures such as your fingernails, hemoglobin, muscles, and the color of hemoglobin, muscles, and the color of your eyes. The process of converting the your eyes. The process of converting the instructions of your traits from your genes instructions of your traits from your genes into protein molecules is called into protein molecules is called protein protein synthesissynthesis. .

Mutations!!!!!!!!Mutations!!!!!!!!

What happens when protein What happens when protein synthesis doesnsynthesis doesn’’t work properly?t work properly?When there is a change in an organismWhen there is a change in an organism’’s s DNA this can change the organismDNA this can change the organism’’s s phenotype. By changing the DNA phenotype. By changing the DNA sequence we are changing the sequence we are changing the ““instructionsinstructions”” for proteins and this can for proteins and this can change an organism at the molecular change an organism at the molecular level. This is similar to what happens level. This is similar to what happens when you change a step in a recipe or when you change a step in a recipe or shift the reading frame in a sentence. shift the reading frame in a sentence. These changes alter the product.These changes alter the product.

Gene MutationsGene Mutations

Changes in a single geneChanges in a single gene

Point mutations=occur at a single point in Point mutations=occur at a single point in the nucleotide, change one amino acid in the nucleotide, change one amino acid in a protein, substitutiona protein, substitution

Frameshift= insertion or deletion of a Frameshift= insertion or deletion of a nucleotide, shift reading frame of amino nucleotide, shift reading frame of amino acids, alters function of proteinsacids, alters function of proteins

Point and Frameshift MutationsPoint and Frameshift Mutations

Point=Point=

Biology is so much fun.Biology is so much fun.

Biology is so much dog. Biology is so much dog.

Frameshift=Frameshift=

The cat ate the rat.The cat ate the rat.

Thc ata tet her at.Thc ata tet her at.

Chromosomal MutationsChromosomal Mutations

Changes in the number or structure of Changes in the number or structure of chromosomeschromosomes

Can change the location or number of Can change the location or number of copies of some genescopies of some genes

Deletion, Duplication, Inversion, Deletion, Duplication, Inversion, TranslocationTranslocation

What are genetic disorders?What are genetic disorders?

A A genetic disordergenetic disorder, or , or genetic diseasegenetic disease is is a disease caused by abnormal expression a disease caused by abnormal expression of one or more genes in a person causing of one or more genes in a person causing a phenotype. a phenotype.

Genetic DisordersGenetic Disorders

PKU- metabolic disease, affects the way PKU- metabolic disease, affects the way body processes one of the building blocks body processes one of the building blocks of proteinof protein

Osteogenesis Imperfecta- bone structure Osteogenesis Imperfecta- bone structure is not produced properlyis not produced properly

Achondroplasia- dwarfismAchondroplasia- dwarfism

Trisomy 21-three chromosome 21Trisomy 21-three chromosome 21’’s, Down s, Down SyndromeSyndrome

AchondroplasiaAchondroplasia

Osteogenesis ImperfectaOsteogenesis Imperfecta

Individuals with DSIndividuals with DS

HemophiliaHemophilia

Sickle Cell AnemiaSickle Cell Anemia

AlbinismAlbinism

Summary Questions:Summary Questions:

What happens when protein synthesis doesnWhat happens when protein synthesis doesn’’t t work properly?work properly?

How do gene mutations cause changes in the How do gene mutations cause changes in the proteins that are produced?proteins that are produced?

What are chromosomal mutations?What are chromosomal mutations?

How do genetic changes (DNA sequences, How do genetic changes (DNA sequences, chromosome #) cause changes in the proteins chromosome #) cause changes in the proteins that are produced?that are produced?