Chapter 13

Types of mutated genes: ***tumor suppressor genes*** are genes that () products have a normal role in preventing (), inducing (), or repairing (). These genes can get () where we see a partial or complete loss of their (). You can cause a gene to lose () by having a decrease in the () levels or there's a nonsense mutation which lead to ()

***tumor suppressor genes*** are genes that (protein) products have a normal role in preventing (cell division), inducing (apoptosis), or repairing (DNA). These genes can get (mutated) where we see a partial or complete loss of their (activity). You can cause a gene to lose (activity) by having a decrease in the (expression) levels or there's a nonsense mutation which leads to (non function)

Types of mutated genes: A ***Oncogene*** are () that are making the gene over (). This results in more () and less (). We can make a gene over reactive by having a () level of expression for that gene

A ***Oncogene*** are (mutations) that are making the gene over (active). This results in more (cell division) and less (apoptosis). We can make a gene over reactive by having a (high) level of expression for that gene

A frameshift mutation occurs when (blank) or deletion is not in a multiple of (blank)

A frameshift mutation occurs when addition or deletion is not in a multiple of three

A frameshift mutation produces a different (blank)

A frameshift mutation produces a different amino acid sequence

Mutaiton

A heritable change in the genetic material

A malignant tumor will cause the disease of (blank). It becomes (blank) (to spread near adjacent tissue) an can metastasize (the spreading of (blank) to more (blank) places in the body). It metastasizes by moving into (blank)

A malignant tumor will cause the disease of cancer. It becomes invasive (to spread near adjacent tissue) an can metastasize (the spreading of cancer to more distant places in the body). It metastasizes by moving into blood vessels

DNA Repair pathway: Base excision repair (BER) fixes

Base analogs

***Base Analogues***: Base analogues are (blank) that have similar structures to (blanks) in nucleotides. Base Analogues occurs during (blank)

Base analogues are chemicals that have similar structures to bases in nucleotides. Base Analogues occurs during DNA replication

DNA Repair pathway: Mismatch repair(MMR) fixes

Base substitutions

Base substitutions are when you (blank) one (blank) for a different one

Base substitutions are when you substitute one base for a different one

Benign Tumors are cells (blank) and (blank) more than they should be, but is not causing (blank). These do not affect the (blank) of the human body

Benign Tumors are cells growing and dividing more than they should be, but is not causing disease. These do not affect the function of the human body

(blank) is uncontrolled (blank) division

Cancer is uncontrolled cell division

Cancer occurs because of (Blank)

Cancer occurs because of mutations

Carcinogens are (blank)

Carcinogens are chemical mutagens

Carcinogens are (blank) mutagens which cause (blank) which can lead to the formation of (blank)

Carcinogens are chemical mutagens which cause mutations which can lead to the formation of cancer

Proliferation is

Cell division

***Chromosomal translocation*** Chromosomal translocation involves a piece of () inserted from another (). This creates a () gene

Chromosomal translocation involves a piece of (DNA) inserted from another (chromosome). This creates a (fused) gene

Covalent modification is when you add (blank) groups to (blank)

Covalent modification is when you add functional groups to DNA Like DNA methylation

DNA Repair: Has several (blank)

DNA Repair: Has several pathways

Gene Mutations are (blank) that happen with a (blank)

Gene mutations are mutations that happen with a gene

In cancer we have over () and less (). This causes a tumor

In cancer we have over (proliferation) and less (apoptosis). This causes a tumor

Nonionizing radiation are (blank) wave lengths with (blank) energy. Because of the (blank) energy the waves don't (blank) as deep

Nonionizing radiation are longer wave lengths with less energy. Because of the low energy the waves don't penetrate as deep only skin deep penetration Ex: UV light

Types of base substitutions: ***Silent mutations*** do not cause any change in the (blank)

Silent mutations do not cause any change in the polypeptide -A base is still substituted -No change because the mutation can be in the third position of a codon

Types of mutated genes: A ***proto-oncogene*** is a () gene but if () it becomes a oncogene. When the proto-oncogene is expressed it promotes () cell division or prevents ()

Types of mutated genes: A ***proto-oncogene*** is a (normal) gene but if (mutated) it becomes a oncogene. When the proto-oncogene is expressed it promotes (normal) cell division or prevents (apoptosis)

The molecules involved in NER are

UvrA, UvrB, UvrC, and UvrD

Viruses change (blank) in genomes

Viruses change RNA in genomes

An addition mutation is (blanking) new (blanks)

an addition mutation is adding new nucleotides

an example of a Carcinogens is (blank)

an example of a Carcinogens is chemicals in tobacco

Base substitutions are a type of (blank)

base substitutions are a type of point mutations

for humans a mutation is a change in the (blank)

for humans a mutation is a change in the DNA

Growth Factor that induce proliferation are

molecules that induce cell division

Mutagens cause (blank)

mutagens cause induced mutations

Apoptosis is

programmed cell death

spontaneous mutations are (blank) genes

spontaneous mutations are 1 in a million genes

spontaneous mutations (blank) evolution

spontaneous mutations drive evolution

When a nonsense mutation shortens a (blank) this is called (blank)

when a nonsense mutation shortens a polypeptide this is called early termination in translation

***Cancer Progression:*** Cancer starts with a ( ) cell that has ( ). A accumulation of ( ) cause the cancer 1. A few ( ) changes/mutations cause ( ) to grow (cells start dividing uncontrollably). This forms a ( ) 2. The cells keep ( ) and the tumor becomes ( ) as it starts to invade adjacent tissue 3. Eventually Metastasis occurs when the ( ) cells enter the ( ) via a blood vessel

***Cancer Progression:*** Cancer starts with a (single) cell that has (mutations ). A accumulation of (mutations) cause the cancer 1. A few (genetic ) changes/mutations cause (benign) to grow (cells start dividing uncontrollably). This forms a (tumor) 2. The cells keep (dividing) and the tumor becomes (malignant) as it starts to invade adjacent tissue 3. Eventually Metastasis occurs when the (tumor) cells enter the (bloodstream) via a blood vessel

***How NER works:*** 1. Two (blank) and 1 (blank) act as sensors and glide down the (Blank) until they find a distortion in the (blank) caused by Thymic dimes 2. Once the damaged (blank) is found the two (blank) are released and the (blank) binds 3. (blank) makes single strand breaks on either side of the (blank) and on the same strand where the (blank) is located 4. Next (blank) is released and (blank) stays to show where (blank) to bind. Then (blank) is released -UvrD is a helicase so it (blank) the DNA by breaking apart the (blank) bonds. This releases a (blank) of the DNA including the (blank) 5. (blank) fills the gap with a strand and (blank) will connect the sugar phosphate backbone

1. Two UvrA and 1 UvrB act as sensors and glide down the DNA until they find a distortion in the double helix caused by Thymic dimes 2. Once the damaged DNA is found the two UvrAs are released and the UvrC binds 3. UvrC makes single strand breaks on either side of the thymine dimer and on the same strand where the mutation is located 4. Next UvrC is released and UvrB stays to show where UvrD to bind. Then UvrB is released -UvrD is a helicase so it unwounds the DNA by breaking apart the hydrogen bonds. This releases a fragment of the DNA including the thymine dimer 5. DNA polymerase fills the gap with a strand and ligase will connect the sugar phosphate backbone

A missense mutation can be a problem if the (blank) that is affected changes (blank)

A missense mutation can be a problem if the amino acid that is affected changes categories

Types of base substitutions: a Missense mutation changes one (blank) in the (blank)

A missense mutation changes one amino acid in the polypeptide

****Missense mutation***: A missense mutation is a single () that is changed such that one () is changed in the polypeptide. This could allow a () receptor to be activated with out the ()

A missense mutation is a single (nucleotide) that is changed such that one (amino acid) is changed in the polypeptide. This could allow a (growth factor) receptor to be activated with out the (growth factor)

Types of base substitutions: a nonsense mutation is a change in a (blank) such that it is changed to a (blank)

A nonsense mutation is a change in a codon such that it is changed to a stop codon.

A Blank is a outgrowth of cells

A tumor is an outgrowth of cells

Addition mutations can be a (blank) mutation or not

Addition mutations can be a point mutation or not

All () can become oncogenes along with anything in the () if it can be activated or ()

All (growth factors) can become oncogenes along with anything in the (pathway) if it can be activated or (expressed)

An example of missense mutation is if a (blank) amino acid becomes a (blank) amino acid

An example of missense mutation is if a non polar amino acid becomes a polar amino acid

This is apart of Deamination which is covalent modification ***Replication***: (blank) changes to U-G then to a (blank) through DNA replication by using the (blank) as a template strand, and then to T-A through DNA (blank) by using the (blank) as a template strand We go from C-G to (blank)

C-G changes to U-G then to a U-A through DNA replication by using the U as a template strand, and then to T-A through DNA replication by using the A as a template strand We go from C-G to T-A

Cancer is (blanks) dividing out of (blank)

Cancer is cells dividing out of control

DNA Repair pathway: Direct reversals fix

Covalent modification

DNA repair: (blank) can proof read

DNA polymerase can proofread

p53 tumor suppressor gene: Pathway DNA sensors sense () P53 is () by the sensors P53 prevents () -G1 and G2 () -we are stopping these checkpoints P53 can () DNA repair pathways to fix () P53 can induce ()

DNA sensors sense (DNA damage) P53 is (activated) by the sensors P53 prevents (CDK/cyclin) -G1 and G2 (checkpoints) -we are stopping these checkpoints P53 can (induce) DNA repair pathways to fix (the mutations) P53 can induce (apoptosis)

Covalent Modification: Deamination is when you replace an (blank) group (NH2) with a (blank) group (oxygen that is double bonded). This changes a (blank) to a uracil.

Deamination is when you replace an amine group (NH2) with a keto group (oxygen that is double bonded). This changes a cytosine to a uracil.

Deletion mutation is (blanking) nucleotides

Deletion mutation is deleting nucleotides

Germ cells (blank) and give rise to (blank)

Germ cells divide and give rise to gametes

***Pathway for grow factors*** Growth factors bind to their (). This causes interaction between intercellular (). The final protein in the () transduction pathway activates transcriptional factors in the (). The transcriptional factors go into the () bind to the DNA and allow transcription for certain (). These genes are important for () and can cause ()

Growth factors bind to their (receptor). This causes interaction between intercellular (signal proteins). The final protein in the (signal) transduction pathway activates transcriptional factors in the (nucleus). The transcriptional factors go into the (nucleolus) bind to the DNA and allow transcription for certain (genes). These genes are important for (cell division) and can cause (cancer)

***How mutagens alter DNA structure: Carcinogens can cause (blank) modifications Base (blank) (blank) of the DNA (blank) helix Physical mutations (blank) radiation ((blank)) (blank) radiation ((Blank))

How mutagens alter DNA structure: Carcinogens can cause covalent modification base analogues Distortion of the DNA double helix Physical mutations Ionizing radiation (x-rays) Nonionizing radiation(UV light)

In Xeroderma pigmentosum there are (blank) in the (blank) pathway. This results in the (blank) of skin lesions

In Xeroderma pigmentosum there are mutations in the NER pathway. This results in the development of skin lesions

In spontaneous mutations (blank) will cause point mutations

In spontaneous mutations DNA polymerase will cause point mutations

In spontaneous mutations (blank), when inserted, are an (blank) mutation

In spontaneous mutations transposons, when inserted, are an addition mutation

In the body there is usually a balance between () and ()

In the body there is usually a balance between (Proliferation) and (apoptosis )

Induced mutations are induced by (blank) besides a (blank) normal process

Induced mutations are induced by something besides a biological normal process

Intercalating agents are (blanks) that tend to have (blank) structures inside the (blank) in between the bases. This changes the (blank)

Intercalating agents are molecules that tend to have ring structures inside the DNA in between the bases. This changes the helix

Intercalating agents interferes with (blank). We get (blank) nucleotide (blanks) or additions.

Intercalating agents interferes with DNA replication. We get single nucleotide deletions or additions An example of this is ethidium bromide

Ionizing Radiation are short (blanks) with high (blank)

Ionizing Radiation are short wavelengths with high energy Examples are x rays and gamma rays

Nonionizing radiation can cause (Blank). One strand of (blank) with two (blanks) in a row, the thymine's bind to each other and not to the (blanks) These form a (blank)

Nonionizing radiation can cause thymine dimers. One strand of DNA, with two thymines in a row, bind to each other and not to the adenines These form a klink

Examples One () is over expressed which tells to other cells to () Mutation in the () so that it does not need a ligand(what binds to the receptor)

One (Growth factor) is over expressed which tells to other cells to (over express) Mutation in the (receptor) so that it does not need a ligand(what binds to the receptor)

***Creation of an oncogene*** Overexpression: Can be done by gene (). The gene gets over (). More expressed genes lead to the () of pathways

Overexpression: Can be done by gene (amplification). The gene gets over (duplicated). More expressed genes lead to the (activation) of pathways

p53 is mutated in () of cancers

P53 is mutated in 50% of cancers

Point mutations are when one single (blank) is (blank)

Point mutations are when one single nucleotide is changed

Somatic cells are (blank) cells that are not (blank) cells

Somatic cells are body cells that are not germ cells

Some examples of physical mutagens are (Blank) and (blank)

Some examples of physical mutagens are UV rays and X-rays

***DNA Repair Pathways***: Step 1: (blank) Detects (blank) DNA structure caused by (blanks) Step 2: (blank) the DNA structure. For each (blank) there are (Blanks) doing the repairs

Step 1: (DNA sensors) Detects (abnormal) DNA structure caused by (mutations) Step 2: (Repair) the DNA structure. For each (pathway) there are (enzymes) doing the repairs

DNA Repair pathway: Homologous recombination (HR) fixes

Strand breaks from ionizing radiation

In a somatic cell scenario with mutations: The danger of the mutation depends on (blank) the (blank) cell becomes mutated. If in (blank) its no big deal. If in development with (Blank) cells, that divide and produce other (blank), if the (blank) cells have a mutation it (blanks) on the mutation. This creates a patch of (blank) with the mutation. This mutation can not be (blank)

The danger of the mutation depends on when the somatic cell becomes mutated. If in adulthood its no big deal. If in development with precursor cells, that divide and produce other cells, if the precursor cells have a mutation it passes on the mutation. This creates a patch of tissue with the mutation. This mutation can not be inherited

The (blank) energy in Ionizing radiation allows these (blanks) to (blank) deep. (like in tissue)

The high energy in ionizing radiation allow these waves to penetrate deep. (like in tissue)

The random mutation theory is when (blank) occur at random in which (blank) it occurs in, what (blank) it occurs in, what (blank) it occurs in and the (blank) it occurs

The random mutation theory is when mutations occur at random in which individual it occurs in, what gene it occurs in, what cell it occurs in and the timing it occurs in

In a germ line scenario with mutations: there is a mutation in the (blank) and now every (blank) will carry the (blank). The organism with the (blank) can pass down the (blank) but it will only affect (blank) of the gametes

There is a mutation in the gamete and now every cell will carry the mutation. The organism with the mutation can pass down the mutation but it will only affect half the gametes

These Ionizing Rays (blank) DNA structure. They cause (blank) breaks in the (blank), and base deletions

These ionizing rays alter DNA structure. They cause strand breaks in the sugar phosphate backbone and base deletions

These (blanks) cause a problem when you try to (blank) DNA (blanks) occuir

These klinks cause a problem when you try to replicate DNA Mismatches occur

***Base Analogues 5-bromouracil***: This is (blank) to thymine and binds to (blank). Because of this if the (blank) goes through replication instead of (blank) being put in, a (blank) will be inserted instead

This is similar to thymine and binds to guanine. Because of this if the DNA goes through replication instead of adenine being put in, a guanine will be inserted instead

DNA Repair pathway: Nucleotide excision repair (NER) fixes

Thymine Dimers from nonionizing radiation

***Chromosomal translocation*** We have () chromosomes (chromosomes 9 and 22). On 9 we have the proto-oncogene abl. On 22 we have the bar (). First we have (). WE move the abl gene to the () gene. The promoter from the bar gene has been () to the abl gene. The promoter is constitutive (always expressed). Abl is normally () but now its always being (). This leads to leukemia

We have (2) chromosomes (chromosomes 9 and 22). On 9 we have the proto-oncogene abl. On 22 we have the bar (gene). First we have (translocation). We move the abl gene to the (bar) gene. The promoter from the bar gene has been (fused) to the abl gene. The promoter is constitutive (always expressed). Abl is normally (regulated) but now its always being (expressed). This leads to leukemia

when (blank) occurs with the intergenic region it is (blank) to affect the (blank) expression

When mutation occurs with the intergenic region it is unlikely to affect the gene expression

When (blank) occur with the promoter it affects the (blank) of transcription

When mutations occur with the promoter it affects the rate of transcription

Xeroderma pigmentosum is a rare (blank) recessive disease

Xeroderma pigmentosum is a rare autosomal recessive disease

A nonsense mutation effects the (blank) of the (blank) being produced

a nonsense mutation effects the function of the protein being produced

Nonsense mutations shorten the (blank)

nonsense mutations shorten the polypeptide

When (blank) occurs with translated regulatory elements it affects how (blank) is (blank)

when mutation occurs with translated regulatory elements it affects how translation is regulated

When (blank) occurs with splice sites it affects the (blank) ability of (blank) to be translationally regulated

when mutations occur with splice sites it affects the splicing ability of mRNA to be translationally regulated

When (blank) occur with the transcriptional regulatory elements/operator sites it affects the (blank) of transcription

when mutations occur with the transcriptional regulatory elements/operator sites it affects the regulation of transcription

Without skin protection (blank) of kids develop skin cancer by age (blank)

without skin protection 50% of kids develop skin cancer by age 10