DNA and Chromosomes
Genes and Alleles
DeoxyriboNucleic Acid
DNA is a very, very long molecule - it contains 3 billion base pairs
A base pair is A=T, or C=G
A base pair is two bases.
The bases are Adenine, Thymine, Cytosine and Guanine
The bases pair up in complimentary base pairing:
Cytosine = Guanine
Adenine = Thymine
The way I remember this is
C=G : The curvy ones like to spoon
A=T: The straight ones go together
These bases pairs are the 'rungs' on the twisted ladder
The sides of the ladder are sugar (either ribose or deoxyribose) and phosphate
The sides go: Phosphate, sugar, phosphate, sugar, phosphate, sugar, phosphate...
From one side to the rung to the side, we go:
Phosphate, Sugar, Base, Base, Sugar, Phosphate
A nucleotide is one complete side
A nucleotide is: Phosphate, Sugar, Base
DNA = Deoxyribonucleic Acid
Deoxyribose is the type of Sugar DNA has
Nucleic Acid is the bases: Adenine, Thymine, Cytosine, Guanine
DNA is coiled up into a twisted ladder shape, called a Double Helix
Helix because of its spiral pattern
Double because of its two sides, or the side - rung, rung - side pattern of the ladder
1 length of DNA is called a Chromosome
The largest human chromosome is chromosome 1
It has: 249 million nucleotide base pairs
More exactly it has: 248,956,422 base pairs
Humans have 23 pairs of chromosomes per cell
They are labelled 1-22 based on size, chromosome 23 are the sex chromosomes
Add up the bases in all 23 Chromosomes, you end up with 3000 Million Base pairs - or 3 Billion
Chromosome 1 has 1,961 Genes
A Gene is a Length of DNA that codes for a Protein
Chromosomes
Humans have 23 pairs of chromosomes
These are pairs because we get one of each from each of our parents
For Chromosome 8 for instance, we get one Ch8 from mum and one Ch8 from dad
We usually can not see the chromosomes in a cell as they often semi-uncoiled for the RNA polymerases to access the genes
However, during Cell division (Mitosis and Meiosis) the chromosomes coil themselves up into tidy structures - this tidying up is called condensing
Once they have condensed we can see them, and even photograph them
A photograph of the Chromosomes is called a Kayrotype
We can either photograph and cut out the chromosomes or, usually, use software to arrange the chromosomes next to each other by size
The 2 chromosome 1's are called Homologous Chromosomes
Homologous = same (1,1) (2,2) (3,3)
The first 22 chromosomes are called Autosomes
Autosomes are the same in males and in females
The 23rd pair are called Sex Chromosomes, or Allosomes
For Females, the Sex Chromosomes are Homologous (X,X)
For Males, the Sex Chromosomes are Non-Homologous (X,Y)
Genes
- Genes code for proteins
- Genes are the instructions for making proteins
- Genes code for the sequence of amino acids
- The sequence of amino acids determines the structure and function of the protein
- Proteins do everything
- A single cells has approximately 40 Million active proteins
- A human has over 80 Thousand different proteins
- All of the proteins are important
- Luckily, we get two sets of insturctions for each type of protein
Alleles
Proteins are important
We have two copies or each gene
One from mum and one from dad
If these copies are identical then we have Homologous Alleles
But they can be different - due to ancestral mutations
If they are different, we can still get the exact same protein with the same amino acid sequence due to the fact that several different codons can code for the same amino acid (redundancy)
If they are different, we could get a different amino acid. This might result in a change of shape and function of the protein
This is the basis of variation
A slightly different protein. A protein with a slightly different shape may result in slightly different activity
This slightly different activity of the slightly different protein might be an advantage depending on the environment
The slightly different protein might be a growth factor giving you bigger muscles
In the right environment this might be beneficial
E.g Myostatin mutation in Eddie Hall
In the wrong environment this might be harmful
E.g Myostatin mutation in Belgian Blue means they cannot be born normally and need to be delivered by a Vet
Sometimes it has no effect at all
E.g The variation we see between each other
We have two copies for each gene
If they are different then we have Heterozygous alleles
Hetero means different
Heterozygous Alleles means that the two versions of the gene are slightly different
This means that the 2 proteins created are slightly different
Belgian Blue Bull - A mutation in the Myostatin Gene -
Eddie Hall - one of the strongest people in the world, also has this mutation
"The Belgian Blue has a natural mutation in the myostatin gene which codes for the protein, myostatin ("myo" meaning muscle and "statin" meaning stop).[5] Myostatin is a protein that inhibits muscle development. This mutation also interferes with fat deposition, resulting in very lean meat.[5] The truncated myostatin gene is unable to function in its normal capacity, resulting in accelerated lean muscle growth. Muscle growth is due primarily to physiological changes in the animal's muscle cells (fibers) from hypertrophy to a hyperplasia mode of growth. This particular type of growth is seen early in the fetus of a pregnant dam, which results in a calf that is born with two times the number of muscle fibers at birth than a calf with no myostatin gene mutation.[5] In addition, a newborn double-muscled calf's birth weight is significantly greater than that of a normal calf". Directly Copied and Pasted from Wikipedia.