Gene to protein to phenotype Flashcards
What is a prion and what disease is a result of prions?
Prions are normal proteins that ref old into different dangerous infectious structures that kill brain and nervous cells. This is the case in Creutzfeld-Jakob disease vCJD or mad cow disease as its more commonly known.
A child who’s newborns urine turns black in air suffers from what disease and how is it inherited?
Alkaptonuria, an autosomal recessive trait linked to the inability to produce enzymes needed to metabolise homogentisic acid so their urine turns black.
Genes produce changes in … Through proteins
phenotype
The amount of genetic information held in a cell is a function of the number of nucleotides in a cell on the 46 chromosomes the cell holds. How many genes roughly are on a chromosome and how many nucleotides make up a gene?
Hundreds or thousands of genes on a chromosome. Genes are typically made up of several hundred to several thousands of nucleotides.
What is a protein?
A linear sequence of amino acid subunits folded into a specific 3D structure related to its function.
How many amino acids are commonly found in humans?
20
How many nucleotides code for an amino acid?
3
Note several different 3 nucleotides sequences may code for the same amino acid.
When you write the nucleotide code for amino acids do you write the DNA code or the RNA code for convention?
RNA code
What are the 4 special codons?
Start codon AUG (also codes for methionine)
Stop Codons UAA UAG UGA
A group of 3 nucleotides coding for an amino acid is called?
A codon
Transcription is…
The gene in the DNA being encoded into pre-messenger RNA in the nucleus.
Translation is…
In the cytoplasm the messenger RNA is converted into a sequence of amino acids in a polypeptide chain to from a protein.
What determines the structure and thus the function of a protein?
The amino acid sequence.
What is pre-messenger RNA?
The transcript made by the DNA template that will go on to be modified to messenger RNA.
What is messenger RNA?
A single stranded complementary copy of the amino acid coding nucleotide sequence of a gene.
(Modified pre-mRNA)
Where is pre-mRNA modified to mRNA?
In the nucleus.
Where does transcription initiation start?
The promoter region of the DNA sequence.
What is the name of the stage of transcription where the gene is read and complementary pre-mRNA is made?
Elongation
Describe transcription
RNA polymerase binds to the promoter region, one strand of DNA is used to make pre-mRNA. The polymerase moves along the DNA unwinding it and linking complementary RNA nucleotides into a strand . Opened DNA at the site of transcription is called the transcription bubble. Transcription is terminated at the 3’ termination sequence where the RNA polymerase dissociates.
What are the tree stages of transcription?
Initiation
Elongation
Termination
Define Introns
Nucleotide sequences in genes that do not code for amino acid sequences in proteins.
What are exons?
What is left in mRNA after introns have been spliced out. The sequence of bases that correspond to the amino acid chain of the protein.
What happens when pre-mRNA is converted into m-RNA?
Introns are spliced out leaving just the exon sequence.
A nucleotide cap is added to the 5’ end.
Poly-A tail is added to the 3’ end, this is a tail of 30-100 nucleotides.
The final product is a mature mRNA molecule.
How does mRNA leave the nucleus for translation?
Through nuclear pores