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Discovering the
Chemical nature of the
Gene
1. Genes Code for Particular Proteins
• The first scientist to investigate the question of how genes
affect phenotype was Sir Archibald Garrod, whose studies of
alkaptonuria 黑尿酸尿症 implied a relationship between
genes and enzymes.
Sir Archibald Edward Garrod (1857-1936)
Garrod was studying the human disorder alkaptonuria. He
collected family history information (as well as urine 尿) from
his patients. Based on discussions with Mendel advocate
William Bateson, Garrod deduced that alkaptonuria is a
recessive disorder.
Archibald Garrod was the first to connect a human disorder
with Mendels laws of inheritance . He also proposed the idea
that diseases came about through a metabolic route leading to
the molecular basis of inheritance.
One-gene-one-enzyme hypothesis
•Thirty years later Beadle and Ephrussi showed a relationship
between particular genes and biosynthetic reactions
responsible for eye color in fruit flies.
•Next, in a series of classic experiments on the effects of
mutations in the bread mold 面包霉 Neurospora crassa 粗糙
脉孢菌 , Beadle and Tatum explored the one-gene-one-
enzyme hypothesisthe idea that each gene codes for a
particular enzyme.
•Their work paved the way for other researchers to elucidate
阐明 the precise ways in which enzymes affect complex
metabolic pathways.
George Wells Beadle
One-gene-one-enzyme hypothesis
First, Beadle found that molds exposed to radiation
lose the ability to produce essential nutrients, and this
slowed, even stopped the growth of the mold.
Then, they found that growth can be restored by
providing the mutated mold with a specific
supplemen
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