4 Genes Flashcards
What is a gene?
A section of DNA that contains the coded information for making polypeptides and functional RNA. The coded information is in the form of a specific sequence of bases along the DNA molecule. Polypeptides make up proteins and so genes determine the proteins of an organism. Enzymes are proteins. As enzymes control chemical reactions they are responsible for an organisms development and activities. In other words genes, along with environmental factors, determine the nature and development of organisms. A gene is a section of DNA located at a particular position called a Locus on a section on a DNA molecule.
The gene is a base sequence of DNA that codes for:
The amino acid sequence of a polypeptide
A functional RNA, including ribosomal RNA and transfer RNAs
The genetic code
In trying to discover how DNA bases coded for amino acids, scientists suggested that there must be a minimum of three bases that coded for each amino acid.
As the code has three bases for each amino acid, each one is called a triplet. As there are 64 possible triplets and only 20 amino acids, it follows that some amino acids are coded for by more than one triplet
What were the scientists reasoning behind thinking there are a minimum of three bases?
– Only 20 different amino acids regularly occur in proteins.
– Each amino acid must have its own code of bases of the DNA
– if each base coded for a different amino acid, only four different amino acid’s could be coded for
– only four different bases are present in DNA
- using a pair of bases, 16 different codes are possible, which is still in adequate
– three bases produce 64 different codes, more than enough to satisfy the requirements of 20 amino acids
Features of the genetic code
– A few amino acids are coded for by only a single triplet
– the remaining amino acids are coded for by between two and six triplets each
– the code is known as a degenerate code because most amino acids are coded for by more than one triplet
-A triplet is always read in one particular direction along the DNA strand
- The start of the DNA sequence that codes for a polypeptide is always the same triplet. This code is for the amino acid methionine. If the first Methionine molecule does not form part of the final polypeptide, it is later removed
– three triplets do not code for any amino acid. These are called stop codes and mark the end of the polypeptide chain. They act in much the same way as a full stop at the end of a sentence
– The code is non-overlapping, in other words each base in the sequence is read only once. Thus six bases numbered 123456 are read as triplets 123 and 456, rather than as triplets 123, 234, 345, 456.
– The code is universal, with a few minor exceptions each triplet code is for the same amino acid in all organisms. This is indirect evidence for evolution
Why does lots of the DNA in eukaryotes not code for polypeptides?
Between the genes that are non-coding sequences made up of multiple repeats of base sequences. Even within genes, only certain sequences code for amino acids. These coding sequences are called exons. Within the gene these exons are separated by further non-coding sequences called introns. Some genes code for ribosomal RNA and transfer RNAs
Exons
Sequences that code for amino acids in genes
Introns
Non-coding sequences within genes that separates the exons
What is DNA like in prokaryotic cells?
The DNA molecules are shorter than eukaryotic DNA, form a circle and are not associated with protein molecules. Prokaryotic cells therefore do not have chromosomes
What is DNA like in eukaryotic cells?
The DNA molecules are longer than prokaryotic DNA, form a line rather than a circle and occur in association with proteins called histones to form structures called chromosomes. The mitochondria and chloroplasts of eukaryotic cells also contain DNA which, like the DNA of prokaryotic cells, is short, circular and not associated with proteins
Chromosome structure
They are only visible as distinct structures when a cell is dividing. For the rest of the time they are widely dispersed throughout the nucleus. When they become visible at the start of cell division chromosomes appear as two threads, joint at single point. Each thread is called a chromatid because DNA has already replicated to give two identical DNA molecules. The DNA in chromosomes is held by histones. The considerable length of DNA found in each cell is highly coiled and folded
Homologous chromosomes
Sexually produced organisms, such as humans, are the result of the fusion of a sperm and an egg, each of which contributes one complete set of chromosomes to the offspring. Therefore, one of each pair is derived from the chromosomes provided by the mother in the egg and the other is derived from the chromosome provided by the father in the sperm. These are known as homologous pairs and the total number is referred to as the diploid number. In humans this is 46
Homologous pair is always two chromosomes that carry the same genes but not necessarily the same alleles of the genes.
Allele
Is one of a number of alternative forms of a gene. Genes are sections of DNA that contain coded information in the form of specific sequences of bases. Each gene exists as two, occasionally more different forms. Each of these forms is called an allele. Each individual inherits one allele from each of its parents. These two alleles may be the same or they may be different. When they are different, each allele has a different base sequence, therefore a different amino acid sequence, so produces a different polypeptide
Transferring coded information
The messenger RNA transfers the DNA code from the nucleus to the cytoplasm. It is small enough to leave the nucleus through the nuclear pores and to enter the cytoplasm, where the coded info that it contains is used to determine the sequence of amino acids in the proteins which are synthesised there
Codon
Refers to the sequence of three bases on mRNA that codes for a single amino acid
Genome
The complete set of genes in a cell, including those in mitochondria and/or chloroplasts
Proteome
The full range of proteins produced by the genome. This is sometimes called the compete proteome, in which case the term proteome refers to the proteins produced by a given type of cell under a certain set of conditions
Ribonucleic Acid structure
RNA is a Polymer made up of repeating mononucleotide sub units
It forms a single strand in which each nucleotide is made up of:
-the pentose sugar ribose
-one of the organic bases adenine, guanine, cytosine and uracil
-a phosphate group
Which two types of RNA are important in protein synthesis?
Messenger RNA
transfer RNA
Messenger RNA
A long strand that is arranged in a single helix
The base sequence of mRNA is determined by the sequence of bases on a length of DNA in a process called transcription
Once formed, mRNA leaves the nucleus via pores in the nuclear envelope and enters the cytoplasm, where it associates with the ribosomes
There is acts as a template for protein synthesis
Its structure is suited to this function because is possesses information in the form of codons
The sequence of codons determines the AA sequence of a specific polypeptide that will be made
Transfer RNA
A relatively small molecule that is made up of around 80 nucleotides
It is a single stranded chain folded into a clover leaf shape, with one end of the chain extending beyond the other
This is the part of the tRNA molecule to which an AA can easily attach
There are many types of tRNA, each of which binds to a specific AA
At the opposite end of the tRNA molecule is a sequence of three other organic bases, known as the anticodon
Given that the genetic code is degenerate there must be as many tRNA molecules as there are coding triplets
However each tRNA is specific to one AA and has an anticodon that is specific to that AA
Complementary base pairings that RNA forms:
Guanine with cytosine
Adenine with uracil (in RNA) or thymine (in DNA)
Transcription
The process of making pre-mRNA using part of the DNA as a template
An enzyme acts on a specific region of dna causing the two strands to separate and expose the nucleotide bases in that region
The nucleotide bases on one of the two dna strands, known as the template strand, pair with their complementary nucleotide from the pool which is present in the nucleus. The enzyme RNA polymerase then moves along the strand and joins the nucleotides together to form a pre mRNA molecule
As the rna polymerase adds the nucleotides one at a time to build a strand of pre-mRNA, the dna strands rejoin behind it. As a result, only about 12 base pairs on the dna are exposed at any one time
When the rna polymerase reaches a particular sequence of bases on the dna that it recognises as a stop triplet code, it detaches, and the production of pre-mRNA is then complete
Splicing of pre-mRNA
In prokaryotic cells, transcription results directly in the production of mRNA from DNA. In eukaryotic cells transcription results in the production of pre-mRNA, which is then spliced to form mRNA. The dna of a gene eukaryotic cells is made up of sections called exons that code for proteins and sections called introns that don’t. These intervening introns would prevent the synthesis of a polypeptide. In the pre-mRNA of eukaryotic cells. The base sequences corresponding to the introns are removed and the functional exons are joined together during a process called splicing
As most prokaryotic cells don’t have introns, splicing of their dna is unnecessary
The mRNA molecules are too big to diffuse out of the nucleus and so, once they have been spliced, they leave via a nuclear pore. Outside the nucleus, the mRNA is attracted to the ribosomes to which it becomes attached, ready for the next stage of the process: translation
Synthesising a polypeptide
Once mRNA has passed out to the nuclear pore it determines the synthesis of a polypeptide.
A ribosome becomes attached to the starting codon at one end of the mRNA molecule
The tRNA molecule with the complementary anticodon sequence moves to the ribosome and pairs up with the codon on the mRNA. This tRNA carries a specific amino acid
A tRNA molecule with a complementary anticodon pairs with the next codon on the mRNA. This tRNA molecule carries another amino acid
The ribosome moves along the mRNA, bringing together two tRNA molecules at any one time, each pairing up with the corresponding two codons on the mRNA
The two AAs on the tRNA are joined by a peptide bond using an enzyme and ATP which is hydrolysed to provide the energy required
The ribosome moves on to the third codon in the sequence on the mRNA, thereby linking the AAs on the second and third tRNA molecules
As this happens, the first tRNA is released from its AA and is free to collect another AA from the AA pool in the cell
The process continues in this way, with up to 15 amino acids being added each second, until a polypeptide chain is built up
Up to 50 ribosomes can pass immediately behind the first, so many identical polypeptides can be assembled simultaneously
The synthesis of the polypeptide continues until a ribosome reaches a stop codon. At this point, the ribosome, mRNA and the last tRNA molecule all separate and the polypeptide chain is complete
Assembling a protein
The polypeptide is coiled or folded, producing its secondary structure
The secondary structure is folded, producing the tertiary structure
Different polypeptide chains, along with any non protein groups, are linked to form the quaternary structure
Mutation
Any change to the quantity or the base sequence of the DNA of an organism
Gene mutation
Any change to one or more nucleotide bases, or a change in the sequence of the bases, in DNA
Types of gene mutations
Substitution of bases
Deletion of bases
Substitution of bases
A nucleotide in a DNA molecule is replaced by another nucleotide that has a different base
The significance of this difference all depends upon the precise role of the original amino acid. If it is important in forming bonds that determine the tertiary structure of the final protein, then the replacement amino acid may not form the same bonds. The protein may then be a different shape and therefore not function properly.
The effect of the mutation is different if the new triplet of bases still code for the same amino acid as before. This is due to the degenerate nature of the genetic code, in which most amino acids have more than one codon.
Deletion of bases
The nucleotide is lost from the normal DNA sequence. Loss of a single nucleotide from the thousands in a typical gene may seem a minor change but the consequences can be considerable. Usually the amino acid sequence of the polypeptide is entirely different and so the polypeptide is unlikely to function correctly. This is because the sequence of bases in DNA is read in units of three bases (triplet).
One deleted nucleotide causes all triplets in a sequence to be read differently because each has been shifted to the left by one
Chromosome mutations
Changes in the structure or number of whole chromosomes are called chromosome mutations
Chromosome mutations can arise spontaneously and take two forms:
– changes in whole sets of chromosomes
– changes in the number of individual chromosomes
Changes in whole sets of chromosomes
Occurs when organisms have three or more sets of chromosomes rather than the usual two. This condition is called polyploidy and occurs mostly in plants
Changes in the number of individual chromosomes
Sometimes individual homologous pairs of chromosomes fail to separate during meiosis. This is known as nondisjunction and usually results in a gametes having either one more or one fewer chromosome. On fertilisation with a gamete that has the normal complement of chromosomes, the resultant offspring have more or fewer chromosomes than normal in all the body cells. An example of a nondisjunction in humans is Down’s syndrome, where individuals have an additional chromosome 21