Set up Page 34 for Cornell Notes Happy Monday Bio-ninjas! Please READ ALL sections below! Journals: Table of Contents: Right Page 34 Mutations Left Page 33 Mutations Practice Set up Page 34 for Cornell Notes EQ: What exactly is a mutation and what are the major types? Due today: Project (if turning in early) One Day Late: (70) Two days Late: (50) Codon Face Assignment Three Days Late: (0) Translation worksheet Annotated notes (translation) HAVE ALL HOMEWORK, LATE WORK/EXTRA CREDIT OUT READY TO BE CHECKED!

Projects are due Wednesday If you didn’t start over the weekend you’re going to experience some stress. You now have two days to get it done. Test grade Will not be accepted after Friday TEST is Thursday DNA Structure, Replication, DNA Fingerprinting, Central Dogma, Transcription, Translation, Mutations

A B C Transcription Replication Translation Bellwork: On the left side of your Translation Notes (same as yesterday) answer the following question. Which process is represented in each picture? You must justify your answer using the format below… Picture A is _____________ because ________________. Picture B is _____________ because ________________. Picture C is _____________ because ________________. Transcription Replication C Translation

Snork activity… What determines whether or not hair is present on the Snork? What conclusions can we make about the role of amino acids in protein synthesis?

Hair Protein (gene expression): START LONG BROWN STRAIGHT DNA: TAC AAG CCG GCG ACG GTT AGC CTT GAG Transcription RNA: AUG UUC GGC CGC Amino Acid Sequence = Translation Hair Protein (gene expression): START LONG BROWN STRAIGHT

Would it change the protein causing a different gene to be expressed? DNA: TAC AAG CCG GCG ACG GTT AGC CTT GAG …if we changed the DNA? Would it change the protein causing a different gene to be expressed? Make a change to DNA in a that causes a change. Is it possible to change the DNA but not see a change?

Mutations: changes in DNA/RNA caused by mistakes during replication, transcription, or environmental factors

5 Genetic Human Mutations

Sickle Cell Anemia Color Blindness Resistance to HIV Crystal clear underwater vision! Crystal clear underwater vision Color Blindness Resistance to HIV

Mutations may occur in: Somatic cells: non-reproductive body cells (these traits are NOT passed to offspring) Gametes: reproductive cells (eggs & sperm) traits may be passed to offspring

Mutations can be harmful…. Hypertrichosis: ‘werewolf syndrome’ is very rare, only affecting one in a billion people. Uner Tan Syndrome: people affected are unable to walk upright and walk on all fours. Sort of a controversial “backward evolution” Progeria: results in accelerated aging. Most who are affected will die before the age of 13. Proteus Syndrome: bones, skin and other tissues are overgrown and out of proportion with the rest of the body. “Elephant Man” Ectrodactlyly: commonly known as “lobster claw hand”. Affected individuals have a cleft where the middle fingers or toes should be.

Mutations can be helpful…. Tetrachromatic Vision: Most mammals have poor vision because they only have two kinds of retinal cone cells in their eyes. Humans have three allowing for better color vision but some rare cases have confirmed individuals (females only) with a mutation that allows for a fourth cone and ability to see ranges of colors that are not visible to “normal people” Malaria Resistance: People afflicted with the mutation known as sickle cell are actually immune to Malaria HIV Resistance: Some people are born with a mutation in the membrane receptor protein that prohibits the HIV virus (the virus that causes AIDS) from binding to the cell and is therefore unable to infect it.

What are the two major types of mutations?

Point Mutations/Substitutions A mutation that replaces a base in a nucleotide, only changes one codon A substitution could also replace an entire codon or DNA section, but this type of mutation usually just replaces one base (letter) with another.

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Possible Effects of Point Mutations early stop (Nonsense) Think of the DNA code as a book. Genes as sentences. This would be like placing a. Period in the wrong spot. change one amino acid (Missense) If DNA code is a book. Genes are senaences. Tay-Sachs disease, Sickle Cell no change to the amino acid (Silent) If DNA Kode is a book. Genes are Sentences. *other than an early stop substitutions are not likely to cause major changes.

Nucleotide(s) are inserted or deleted Frameshift Mutations Nucleotide(s) are inserted or deleted Affects the entire amino acid sequence, changes the reading frame If DNA code is like a book. Genes math are like sentences. If DNA code is like a Genes. are like sentences.

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Frameshift Insertion A base is added and causes a change in ALL the amino acids AFTER it

Frameshift Deletion A base is deleted and causes a change in ALL the amino acids AFTER it.

Frameshift Frameshift mutations cause MAJOR changes to the amino acid sequence. *Potentially can change every amino acid in the chain after the mutation has occurred.

Name the Mutation (remember codons are read in threes) the dog ate the fat cat tsh edo gat eth efa tca t

Name the Mutation (remember codons are read in threes) the dog ate the fat cat the dog ate the fat kat

What type of mutation substitution or frameshift? Original: The dog ate the fat cat After mutation: The dog ate the fat cat Substitution. The mutation coded for the same amino acid

What type of mutation substitution or frameshift? Original: The dog ate the fat cat After mutation: Tsh edo gat eth efa tca t Frameshift (Insertion). An s was inserted between the T and the H

What type of mutation substitution or frameshift? Original: The dog ate the fat cat After mutation: Th Substituion (Nonsense). The change coded for an early “Stop” Amino Acid

What type of mutation substitution or frameshift? Original: The dog ate the fat cat After mutation: Tse dog ate the fat cat Substitution(Missense). The change coded for a different word in the first codon.

What type of mutation substitution or frameshift? Original: The dog ate the fat cat After mutation: Ted oga tet hef atc at Frameshift (Deletion) A letter was deleted and changed every codon afterwards

Mutations Original: The dog ate the fat cat Silent: The dog ate the fat cat Missense: Tse dog ate the fat cat Nonsense: Th Insertion: Tsh edo gat eth efa tca t Deletion: Ted oga tet hef atc at