BIOC15H3 Lecture Notes - Lecture 2: Phenylalanine Hydroxylase, Dominance (Genetics), Phenylalanine
18 Nov 2013
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Bioc15fall2013 lecture 1 and lecture 2 notes (chapter 1 and chapter 7. 3) In eukaryotes, separated exons composing single gene allow potential rearrangements and rapid divesification. Alkaptonuria (aku: 1902 doctor garrod noticed patients with aku had unusual constituent to their urine = homogenistic acid (ha, he described this disease as inborn error of metabolism". 1: 1958 described the defective enzyme as homogenistic oxidase (ha oxidase) = black pee (pathway is stopped: albinism missing enzyme that turns tyrosine to dopamine (which can then make melanin a few steps later) How does a mutant allele affect a gene product: a person with pku marries one with aku. One of their children marries a person with aku. Citrulline is defective, but the rest of the pathway functions normally (since it grows as long as it has citrulline) Another example: methionine auxotrophs from the data above, you can generate this pathway: Tay-sachs: homozygous recessive mutation of a gene (n-acetylhexosaminidase)
