06BIS101S2013DomRecLect6

Lrodriguez 7 in born errors of metabolism and beadle

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Unformatted text preview: ed development which causes these seeds to wrinkle when they mature. 02/12/14 BIS101­001, Spring 2013—Genes and Gene Expression, R.L. Rodriguez ©2013 BIS101­001, Spring 2013—Genes and Gene Expression, R.L. Rodriguez 7 In Born Errors of Metabolism and Beadle Tatum Hypothesis ­ In 1902, the English physician, Archibald Garrod discovered akaptonuria (AKU), akaptonuria the first human genetic disorder. After studying patients whose urine turned black after exposure to air, Garrod developed the concept of "inborn errors of metabolism". ­ Garrod believed that AKU was due to a Garrod defect in a specific step in tyrosine metabolism, causing a buildup of homogentisic acid or homgentisate (also called alkaptone) in the urine of diseased patients. Garrod rightly concluded that this disease behaved as a recessive Mendelian trait. ­ Garrod’’s observation anticipated Beadle s and Tatum’s One Enzyme/One Gene Hypothesis by 40 years. 02/12/14 BIS101­001, Spring 2013—Genes and Gene Expression, R.L. Rodriguez ©2013 BIS101­001, Spring 2013—Genes and Gene Expression, R.L. Rodriguez 8 Alkaptonuria Pedigree ­ In the pedigree on the right, alkaptonuria looks like an autosomal dominant defect. q it does...
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