4: Genetic information and Variation Flashcards
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What is a gene?
A section of the DNA nucleotides that codes informstion for a polypeptide chain
(A gene occupies a fixed position, called a locus, on a particular strand of DNA)
What are the features of the genetic
code?
- Triplet Code: 3 bases make one amino acid
- Universal: it is the same in all known living things
-
Non-overlapping: each base appears in only one
triplet. -
Degenerate: most amino acids are coded for by more than one
triplet.
genetic code
What is a triplet code?
- 3 bases = 1 amino acid
- There are 20 types of amino acids that can make up our proteins.
- We have 4 base pairs (A, G, C, T) to achieve this:
If 1 base = 1 amino acid… 4 amino acids
If 2 bases = 1 amino acid … 16 amino acids
3 bases = 1 amino acid … code for 64 amino acids (potentially)
This excess of amino acids is important for the next feature…
genetic code
What is a degenerate code?
- most amino acids are coded for by more than one triplet.
- This is vital to protect against point mutations (change in a single base)
- Only a few amino acids have just one triplet code e.g. methionine (ATG)
- The start of a DNA sequence that codes for a polypeptide is always a triplet that codes for the amino acid methionine. If the first methionine molecule does not form part of the final polypeptide it is later removed.
- There are 3 stop codes (don’t code for any amino acid) and mark the end
of a polypeptide chain– ATT, ATC, ACT.
genetic code
What is a non-overlapping code?
- each base appears in only one triplet
- Only read each base once.
- Evolutionary advantage – mutation may only affect one triplet
genetic code
What is a universal code?
- it is the same in all known living things
e.g. ATG = methionine (same code = same amino acid)
What is an allele?
a different version of the same gene (e.g. eye colour)
What is a phenotype and genotype?
Phenotype- the characterisic expressed as a result of genetic constitution and its interaction with the environment
Genotype- the genetic makeup of an organism/ genes inherited
What is the difference between dominant and recessive?
Dominant- only one allele needs to be inherited for the characteristic to be expressed
Recessive- both alleles needs to be inherited for the characteristic to be expressed
What is the difference between heterozygous and homozygous?
homozygous- 2 of the same allele (bb/BB)
heterozyous- 2 different alleles (Bb)
What is DNA like in eukaryotes?
In the nucleus of eukaryotic cells, DNA molecules are very long, linear and associated with proteins, called histones. Together a DNA molecule and its associated proteins form a chromosome.
- In eukaryotes, much of the nuclear DNA does not code for polypeptides.
- There are, for example, non-coding multiple repeats of base sequences between genes.
- Even within a gene only some sequences, called exons, code for amino acid sequences.
- Within the gene, these exons are separated by one or more non-coding sequences, called introns.
- Introns can range in size from 10’s of base pairs to 1000’s of base pairs.
Where else can DNA be found in eukaryotes?
- The mitochondria and chloroplasts of eukaryotic cells also contain DNA which is short, circular and not associated with proteins (like prokaryotic cells).
What is DNA like in prokaryotes?
- DNA molecules are short, circular and not associated with proteins. The genetic code may also be overlapping.
What is the genome and the proteome?
- genome- the complete set of genes in a cell
- proteome- the full range of proteins that a cell can produce
What are the 2 parts of protein synthesis?
transcription and translation
What is the role of mRNA in protein synthesis?
- mRNA (messenger RNA)- forms chain of RNA corresponding nthe DNA sequence, read 3 bases at a time
- made during transcription, synthesised using a DNA template
- mRNA codon is a sequence of 3 bases, a polynuceotide
What is the role of tRNA in protein synthesis?
- tRNA (transfer RNA) carries amino acids to ribpspmes based on thge bases read (important during translation)
- carried amino acids from cytoplasm to ribosomes (used to assemble proteins)
- single polynucleotide, folding to resemble a 3 leaf clover
Transcription
- Hydrogen bonds (between DNA bases) break
- (Only) one DNA strand acts as a template;
- (Free) RNA nucleotides align by complementary base pairing
- (In RNA) Uracil base pairs with adenine (on DNA) OR (In RNA) Uracil is used in place of thymine;
- RNA polymerase joins (adjacent RNA) nucleotides;
- (By) phosphodiester bonds (between adjacent nucleotides);
- Pre-mRNA is spliced (to form mRNA) OR Introns are removed (to form mRNA);
Translation
- (mRNA attaches) to ribosomes/ (mRNA attaches) to rough endoplasmic reticulum;
- (tRNA) anticodons (bind to) complementary (mRNA) codons;
- tRNA brings a specific amino acid;
- Amino acids join by peptide bonds/ (Amino acids join together) with the use of ATP;
- tRNA released (after amino acid joined to polypeptide);
- The ribosome moves along the mRNA to form the polypeptide;
What is transcription?
- a section of DNA is copied into mRNA
- this section of DNA is often a gene that codes for a protein
- transcription take place in a eukaryotic nucleus
What are the steps of transcription?
1. RNA polymerase attatches to a section of DNA
- RNA polymerase is associated with enzyme DNA helicase which breaks bonds between 2 DNA strands
- the DNA molecule unwinds, exposing a no. of bases
- one DNA strand is used to create a mRNA gene copy (template strand)
2.A mRNA strand is synthesised.
- free RNA bases in the nucleus are attracted to their exposed DNA counterparts.
- hydrogen bonds form between complementary RNA and DNA bases.
- RNA polymerase catalyses the formation of phosphodiester bonds between neighboring RNA molecules, creating a new strand of mRNA.
3.The DNA molecule reforms once RNA has moved past
- Hydrogen bonds reform between DNA bases, causing the double helix to reassemble.
4.RNA polymerase detaches from the DNA once it reaches a stop signal.
- the region at the end of a gene is called a stop signal.
- Once RNA polymerase reaches the stop signal, it ceases to synthesise mRNA and is released from the DNA.
5.mRNA leaves the nucleus through nuclear pores.
- The mRNA will then associate with a ribosome so it can be translated into protein.
What is splicing?
- Eukaryotic DNA contains regions that do not code for a protein. These are called introns.
- Introns are copied into pre-mRNA during transcription. Introns are removed from pre-mRNA by splicing.
- During splicing, the introns are removed and the coding regions of mRNA (the exons) are spliced together.
- The mRNA is now referred to as mature mRNA. The mature mRNA then leaves the nucleus and associates with a ribosome.
- Prokaryotic DNA does not contain introns. As such there is no mechanism for splicing in prokaryotes.
What occurs during splicing?
- In eukaryotes, transcription results in the production of pre-mRNA; this is then spliced to form mRNA.
- Eukaryotic genes (unlike prokaryote) contain base sequences that are not translated into polypeptides. Introns are non-coding sections of the gene
- The Spliceosome forms and causes the introns to form loops which allows the exons to be joined and introns removed.
- The spliceosome is a complex assembled from small nuclear RNA (snRNA) and proteins.
What is translation?
Where proteins are made from the RNA template
What are the steps of translation?
1. The mRNA attaches to a ribosome.
- Molecules of tRNA carry amino acids to the mRNA sequence.
- The bond between the tRNA molecule and the amino acid is formed using ATP.
2.The first tRNA anticodon binds to a complementary codon on the mRNA.
- Codons and anticodons will form hydrogen bonds with one another.
- The first tRNA molecule will always bind to the same codon.
- This is called the start codon. In humans it is the sequence AUG.
3.A second tRNA anticodon will attach to the next codon on the mRNA.
- This will occur using the same mechanism as the first tRNA molecule.
4.A peptide bond will form between the neighboring amino acids that are being held by the tRNA molecules.
- The first tRNA molecule will then unbind, leaving its amino acid behind.
5.This cycle will continue, producing a primary chain of amino acids.
- This is the process of elongation.
6.Eventually, the complex will reach a stop codon.
- A stop codon does not code for an amino acid.
- Instead it signals the protein to dissociate from the ribosome and move into a different region of the cell.
What is a mutation?
- a change in genetic material/ nucleic acid base
- if a mutation occurs in a gene, the sequence of amino acids it codes for and the protein formed could be altered
- if the base that has been changed still codes for the same amino acid, the protein that is coded for does not change, making it a neutral mutation
What are different types of mutations?
- GENE: substitution, deletion, insertion
- CHROMOSOMAL: caused by errors in cell division, inversion
- duplication
- silent
- neutral
What are mutagenic agents?
This means that the DNA is misread during replication, causing problems with making specific proteins essential to that organism.
Mutagenic agents can cause an INCREASE in the rate of mutations.
e.g.
- Ultraviolet Radiation causing skin cancer
- Cigarette smoke (carcinogen chemicals) causing lung cancer
- Viruses used in gene therapy (good mutations)
- ionising radiation, chemicals and viruses
occur simultaneously
What is a substitution mutation?
one base is replaced with another
This means that the sequence for the amino acids has changed which means the sequence will either NOT make the protein the original sequence coded for, make a FAULTY protein, a completely DIFFERENT protein or in most cases, NO protein at all!
What is a deletion mutation?
a base is deleted from the sequence
This means that the sequence for the amino acids has changed which means the sequence will either NOT make the protein the original sequence coded for, make a FAULTY protein, a completely DIFFERENT protein or in most cases, NO protein at all!
Why do not all mutations affect the order of amino acids?
due to the genetic code being “degenerate”(some amino acids are coded for by more than one DNA triplet code.)
eg. TAT / TAC - both code for the amino acid Tyrosine (substitution)
However, deletions will always lead to a change in base numbers present, which leads to a shift in the base triplets.This is called a FRAMESHIFT
What is an insertion/ addition mutation?
A mutation that occurs when a nucleotide (with a new base) is randomly
inserted into the DNA.
- this changes the amino acid that would have been coded for by the original base triplet, as it creates a new, different triplet of bases
- an insertion mutation also has a knock-on effect by changing the triplets (groups of three bases) further on in the DNA sequence (frameshift mutation)
- This may dramatically change the amino acid sequence produced from
this gene and therefore the ability of the polypeptide to function
What is a chromosome mutation?
chromosome mutations are caused by errors in cell division/ meiosis
- In humans, when meiosis works properly then 4 gametes are produced with 23 chromosomes.
- However, when things go wrong with meiosis , the cells produced contain
variations in the numbers of whole chromosomes or pairs of chromosomes.
- this is known as non-disjunction when the chromosomes fail to separate properly.
- Chromosome mutations lead to inherited conditions because the error is present in the gametes.
- Eg. Downs Syndrome (an extra 21 chromosome)
What is a inversion mutation?
during crossing over in meiosis, the gene is cut in two places and then inserts “backwards” at 180 °.
- This means a large portion of the gene is backwards, affecting a large proportion of amino acids, meaning non-functional protein could be coded for.
What is a duplication mutation?
when awhole gene or section of a gene is duplicated so that two copies of the gene/section appear on the same chromosome
- The original version of the gene remains intact and therefore the mutation is not harmful
- Overtime, the second copy can undergo mutations which enable it to develop new functions
- Duplication mutations are an important source of evolutionary change
- Alpha, beta and gamma haemoglobin genes evolved due to duplication mutations
CAN BE ADVANTAGEOUS
What is a silent/ neutral mutation?
A form of point mutation resulting in a codon that codes for the same or a different amino acid but without any functional change in the protein product
What are advantages of some mutations?
- Mutations have been responsible for antibiotic resistance in bacteria, sickle cell resistance to malaria, and immunity to HIV, among others.
- An Ecuadorian community with the rare gene mutation known as Laron syndrome are protected against cancer and diabetes.
What are disadvantages of some mutations?
- Many other diseases, such as cancer, diabetes and asthma, are linked to genetic mutations.
- Genetic disorders such as Down’s Syndrome, Prader-willi syndrome, Cystic fibrosis are all caused by chromosomal mutations or gene mutations.
What is genetic diversity?
the total no. of different alleles in a population, making it more or less likely that the individuals react to environmental change.
What is population and species?
population- a group of individuals of te same species that live in the same place and can interbreed
species- one or more population with the same genes that can produce fertile offspring