BSC 2010 Lecture Notes - Lecture 10: Ribosomal Rna, Messenger Rna, Alkaptonuria

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10. 1 genetics shows that genes code for proteins. 10. 2 dna expression begins with its transcription to rna. 10. 3 the genetic code in rna is translated into the amino acid sequences of proteins. Chapter 10 from dna to protein: gene expression. 10. 4 translation of the genetic code is mediated by trna and ribosomes. Identification of proteins as gene products began in the early 20th century. Children with a rare disease called alkaptonuria had parents who were first cousins. Garrod realized they must be homozygous for a recessive mutant gene. He isolated homogentisic acid from the children, which accumulated in the blood, joints, and urine. Garrod speculated that homogentisic acid is normally broken down to a harmless product by an enzyme, but the dominant wild-type allele for the enzyme was mutated in alkaptonuria patients. These and other studies led him to correlate one gene to one enzyme. Homogentisic acid is part of a biochemical pathway of protein breakdown.

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