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Science 17 March 1967:
Vol. 155. no. 3768, pp. 1428 - 1430
DOI: 10.1126/science.155.3768.1428
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Articles

Amino Acid Transport: Evidence for Genetic Control of Two Types in Human Kidney

C. R. Scriver 1 and O. H. Wilson 1

1 DeBelle Laboratory for Biochemical Genetics, McGill-Montreal Children's Hospital Research Institute, Montreal 25, Quebec, Canada

A mutation affecting renal transport of proline, hydroxyproline, and glycerine occurs in man. In the presumed homozygote there is still significant residual transport of these compounds; however, this remaining function is saturated at normal concentrations of substrate in the plasma and is not inhibited by L-proline in the expected way. The presumed heterozygote has partial loss of a transport system common to the three substrates, which becomes saturated at high concentrations of substrate and is inhibited by L-proline. Two different types of transport systems are proposed: a common system and systems with lower capacity and greater specificity. The two types of transport appear to be controlled by separate genes.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Apical Transporters for Neutral Amino Acids: Physiology and Pathophysiology.
S. Broer (2008)
Physiology 23, 95-103
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Amino Acid Transport Across Mammalian Intestinal and Renal Epithelia.
S. Broer (2008)
Physiol Rev 88, 249-286
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On the Enzymology of Amino Acid Transport.
A. Meister (1973)
Science 180, 33-39
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Use of Human Genetic Variation to Study Membrane Transport of Amino Acids in Kidney.
C. R. Scriver (1969)
Arch Pediatr Adolesc Med 117, 4-12
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Disorders of Intestinal Transport of Amino Acids.
S. O. Thier and D. H. Alpers (1969)
Arch Pediatr Adolesc Med 117, 13-23
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Persistent Tachycardia, Paroxysmal Hypertension, and Seizures: Association With Hyperglycinuria, Dominantly Inherited Microphthalmia, and Cataracts.
C. W. Adams and W. E. Nance (1967)
JAMA 202, 525-530
   Abstract »    PDF »
Lysine Transport in Human Kidney: Evidence for Two Systems.
L. E. Rosenberg, I. Albrecht, and S. Segal (1967)
Science 155, 1426-1428
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