Lecture 6 Flashcards
(84 cards)
pointed out the connection between gees and enzymes
Archibald Garrod
a human disease in which urine turns black upon exposure to air
alkaptonuria
studied alkaptonuria
Archibald Garrod
is alkaptanoria genetically contorolled?
yes
what is non functional in the pathway in Alkaptonuria
HA oxidase ( this causes the accumulation of HA (alcapton) and leading to genetic block
what is not functional in the Phenylketonuria (PKU)
phenylalanine hydroxylase
in Phenylketonuria, Phenylalanine is converted into _______ which inhibits the production of ______ since phenylpyruvic acid inhibits the function of Trp hydroxylase
phenylpyruvic acid - serotonin
In albinism, the enzyme that is non-functional is
tyrosinase
what does one-gene one enzyme hypothesis state?
- a gene is responsible for an enzyme
- an enzyme catalyzes a step in a metabolic reaction (if you have a mutant gene, therefore you will have a nonfunctional enzyme thus causing a genetic block in the metabolic pathway)
what does one-gene one protein state?
-Protein are gene products
-not all proteins are enzymes (enzymes only make a subset of proteins)
eg. keratin - structural protein of the hair
insulin - protein hormone
what does gene one polypetide state?
each polypeptide chain in a functional protein is encoded by a gene
polypeptides in hemoglobin
2 alpha and 2 beta chains
antibody of hemoglobin (how many heave chain and light chain)
2 heavy chain and 2 light chain
is replication a pre-requisite in gene expression
no (you have a separate pathway for it)
Contains information for making 1 RNA and most cases, 1 polypeptide
Gene
a DNA sequence to which transcription enzymes binds
promoter
the transcription enzyme
RNA polymerase
T OR F: conserved sequences - the sequence in different species is the same or conserved
T
Two bacterial sequences in the promoter
- 10 seq. TATAAT (pribnow box)
- 35 seq. TTGACA
upstream of the initation site means
bases prior to the initiation site
succeeding bases following the initiation site
(+) downstream
elements that are bound by the sigma factor and RNA polymerase to start transcription
-35 element TTGACA
-10 TATAAT or Pribnow box
direction of transcription
5 prime to 3 prime
In the Initiation, If template strand (anticoding) is in 3’-5’ direction, the synthesize will be at__________
antiparallel, 5’-3’