Bio 30 (Exer#6)

• Garrod - first evidence of specific relationship between gene and enzyme
• Alkaptonuria - human disease, urine turns black upon exposure to air
• Alkaptonuria - common in 1st cousin mating but not in unrelated partners
• Normal Pathway - HA oxidase
• Pathway in Alkaptonuria - Non functional HA oxidase
• Cretinism - Physical deformity and learning disabilities
• Galactosemia - Liver enlargement
• Huntington's Disease - Progressive mental retardation
• Jaundice - presence of bile in various tissues
• Lesch-Nyhan Syndrome - Mental retardation or self mutilation
• Phenylketonuria - Excretion of Phenylalanine, mental retardation
• Tay sachs disease - mental and motor retardation
• Albinism - No melanin pigment in the hair, skin, eyes
• Beadle and Tatum

  • One gene - one enzyme
  • One Gene - One protein
  • One Gene - One polypeptide
• a gene is responsible for an enzyme
• an enzyme catalyzes a step in metabolic reaction
• proteins are gene products
• not all preotein are enzyme
• keratin - structural protein of the hair
• insulin - hormone
• hemoglobin - 2 alpa and 2 beta chain
• antibody - 2 light chain and 2 heavy chain
• From proteins to phenotypes

  • structural
  • transport
  • receptor
  • antibody
  • storage
  • regulatory
• enzyme - catalyze metabolic reaction
• Proteins

  • amino acid
  • protein
  • ribosome
• gene - contains information for making one RNA and in most cases on polypeptide
• promoter - DNA sequence to which the transcription enzyme binds
• RNA polymerase - main enzyme for transcription
• Initiation - conserves sequence in the promoter
• initiation - uses anti coding or anti sense DNA
• initiation - requires RNA polymerase and Sigma Factor
• Elongation - RNA polymerase, 5' to 3' direction
• termination - RNA polymerase, RHO factor (RHO independet and RHO dependent)
• mRNA - carries the message
• tRNA - brings amino acid to the site of synthesis
• rRNA - major componennt of the ribosome
• codon - a three base sequence in mRNA that specifies an amino acid
• anticodon - three base sequence in a tRNA that base pairs with a specific codon
• genetic code - the set of 64 codon and the amino acid they stand for
• polypeptide - a single protein chain