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38 Cards in this Set

  • Front
  • Back

What do genes code for?

Genes are lengths of DNA which code for 1 or more polypeptides, including:


Antibodies


Enzymes


Hormones


Structural proteins, such as keratin or elastin


Receptor molecules in cell signalling

Genome

The entire library of genes in an organism.




The Human Genome contains approx. 25 000 genes.

Characteristicsof the genetic code:

Triplet code

Three nucleotide bases codes for an amino acid



Four bases arranged into groups of three so the number of different triplet sequences is 4³ is 64




More than enough for 20 amino acids

Characteristics of the genetic code:

Degenerate code

All amino acids have more than one code



EXCEPT METHIONINE

Characteristics of the genetic code:

Stop codons

Some codes don’t correspond to an amino acid



These indicate STOP and end the polypeptidechain

Characteristics of the genetic code:

Widespread but NOT universal

Base sequence TCT codes for amino acid serine inany organism

Useful for genetic engineering as we cantransfer a gene from one organism to another and still produce the same protein




Some variations include:


Mammalian mitochondria: two codes for methionineand one standard stop codes codes for tryptophan


Ciliated protoctists: two of the standard stopcodes code for glutamic acid

What is messenger RNA synthesised from?

Messenger RNA is synthesised form free activated RNA nucleotides which are found in the nucleolus.




They are activated through the addition of 2 additional phosphate groups.




i.e. ATP (from AMP), GTP (from GMP), UTP (from UMP) and CTP (from CMP)

Describe the role of ribosomal RNA in translation

Assembled in the nucleolus of eukaryote cellsfrom ribosomal RNA and protein



Made up of two subunits between which is a grovethrough which mRNA can fit




Ribosome move along the mRNA reading the codeand assembling the amino acids

Describe the role of messenger RNA in translation
Made in the nucleus



Three adjacent bases are called a codon




Carries the genetic code from the DNA in thenucleus to the cytoplasm, where it’s used to make a protein during translation

Describe the role of transfer RNA in translation
Another form of RNA



Made in the nucleus and passes into thecytoplasm




Folded into hairpin shapes




2 binding sites:


- The anti-codon which is complementary to the


condon on the mRNA


- A site which binds the corresponding amino acid

How does cyclic AMP work?



Once the polypeptides have been synthesised they may not be immediately active.


Cyclic AMP activates proteins by altering their 3D structure.




(Cyclic AMP is synthesised from ATP using the enzyme adenyl cyclise)

The Lac Operon:


Explain why the Lac Operon, an example of an inducible protein (one that can be turned on and off), exists

E. Coli can respire both glucose and lactose (glucose + galactose)


Usually their environment is louses rich so they don't want to make the enzymes necessary for lactose respiration




Why?


Making proteins that are not essential will tie up resources such as amino acids


Uses a lot of energy unnecessarily



The Lac Operon:


State the role of Beta-Galactosidase

Beta-Galactosidase catalyses the hydrolysis of lactose into glucose

The Lac Operon:


State the role of Lactose Permease

Lactose Permease increases the cell's permeability to lactose so it can take in more lactose from the surrounding environment

The Lac Operon:

State the role of the regulatory gene

The regulatory gene codes for a repressor protein

The Lac Operon:

State the role of the promoter region

The promoter region is where RNA polymerase binds

The Lac Operon:


State the role of the operator region

The operator region is where the repressor protein binds

The Lac Operon:


State the role of the structural gene (Z and Y)

The structural genes Z and Y code for Beta-Galactosidase and Lactose Permease, the enzymes required for lactose respiration

What is apoptosis?

Apoptosis is programmed cell death.

What is the process of apoptosis like?

It is ordered, tidy and does not affect neighbouring cells or tissues.

Why is the process of apoptosis carried out?

It removes excess cells allowing their components to be recycled into new cells.


It allows organisms to develop, i.e. digit formation.


Removes harmful cells (T-Lymphocytes that are complementary to our own antigens)


Removes ineffective cells (cells at the end of their lifecycle)

How is apoptosis controlled?

Hormones


Cytokines (from infected cells)


Growth factors - protein signals which control growth


Nitric Oxide:


- Mitochondrial inner membranes become permeable


- H⁺ concentration dissipates


- ATP production decreases or stops

Outline the process of apoptosis

1. Enzymes digest the cytoskeleton


2. Cytoplasm becomes dense as organelles become more tightly packed together


3. Blebs form (bulging)


4. Chromatin (DNA & proteins) condense and the nuclear envelope breaks


5. DNA fragments


6. The cell breaks apart forming apoptotic bodies (vesicle like structures)


7. These bodies package the harmful hydrolytic enzymes preventing damage to other cells


8. Phagocytosis of the cellular debris, some of which can be recycled

What is necrosis?




What is it caused by?

Necrosis is premature cell death




Necrosis is caused by infection, trauma and toxins




Necrosis is harmful to the body and in some cases be fatal

What are mutations?




What happens if a mutation occurs in a somatic cell vs. a gamete cell?

Changes to the sequences of DNA nucleotides in a gene.




Somatic (body) cell: the effects are only present in that individual


Gamete (sex) cell: the effects will be present in future generations.

What are the three levels that a mutation can occur?

DNA level mutations: changes in the arrangement of bases in an individual gene


Gene mutations: changes in the chromosome, changing the arrangement of genes


Chromosome mutations: addition of deletion of a chromosome

What causes mutations?

Cigarette tar


UV light


X-Rays


Gamma-rays

Describe a point mutation (substitutions)




Give an example

Point Mutations:


- 1 bases of 1 base triplet is swapped for another


E.g. orignal DNA sequence: the fat cat ate the wee rat


mutant DNA sequence: the fat hat ate the wee rat




Example: Sickle cell anaemia


- Deoxygenated haemoglobin becomes fibrous in nature and cannot carry oxygen


- Caused by 1 amino acid VALINE replacing glutamic acid

Describe a deletion mutation



Give an example

Deletion Mutation:


- Removal of 1 or more bases, results in a frameshift mutation


E.g. original DNA sequence: the fat cat ate the wee rat


mutant DNA sequence: the fat ca^a tet hew eer at




Example: Cystic Fibrosis


- Over production of mucus in the respiratory, digestive and reproductive tracts


- Deletion of 1 base triplet in a polypeptide 1,480 amino acids long

Describe an insertion mutation



Give an example

Insertion Mutation:


- Addition of 1 or more bases, results in a frameshift mutation


E.g. original DNA sequence: the fat cat ate the wee rat


mutant DNA sequence: the fat cat hat ate the wee rat




Example: Huntington's Disorder


- Onset in over 40s with symptoms such as forgetfulness, confusion, unbalance and slurred speech


- Insertion of a stutter where CAG is repeated

Describe how mutations can be harmful



Give examples of harmful mutations



Harmful mutations have a negative effect on an organisms phenotype and can affect its ability to survive and reproduce




Examples:


- Huntington's Disorder


- Cystic Fibrosis


- Sickle Celled Anaemia

Describe how mutations can be neutral




Give examples of this can occur

Neutral mutations have no affect on the phenotype or its ability to survive and reproduce




This can happen if:


- The mutation occurs in a non-coding region


- The triplet code changes but it still results in the same amino acid (silent mutation)


- The mutation codes for a new protein, however the protein has no effect on the organisms survivability




Examples: tongue rollers, honey suckle smellers, ear lobe shape, PTC tasters

Describe how mutations can be beneficial

All the living things you see around are the result of positive mutations

Give the definition of a homeotic gene

A homeotic gene regulates the expression of other genes in an organisms genome.

How can homeotic genes go wrong?

Retinoic Acid is a derivative of Vitamin A andtriggers homeobox genes causing birth defects in pregnant women who takeretinol during the first month of pregnancy.



Mutations in homeobox genes can cause changes inthe body plan.


E.g. a mutation in the genes controlling leg placement can causelegs to grow when the antennae are normally found.

Homeobox genes are present in the genomes of most organisms, e.g. plants, animals and fungi, what does this suggest?

- Homeobox genes control development of body parts of different organisms in similar ways


- Little variation in many regions of the homeoboxgenes in different organisms suggests these have been highly conservedthroughout evolutionary history


- Thought to be especially important to the basicdevelopment of organisms

What do homeobox genes do?

Homeobox genes control the development of bodyplans.

a. Control the polarity of the organism (the headand tail end); and


b. Control the positioning of organs2.




‘Switching on’ the expression of a gene orkeeping it switched off determines the development of features.

What do homeobox genes code for?




When are they activated and expressed?




In what form do they occur?

They code for transcriptional factors that regulate the expression of other genes important in development.



They are expressed and activated in a specific order during the development of the embryo.




They occur in groups that are referred to as a cluster or ‘set’, with each Hox-Cluster containing 9-11 Homeobox genes.