Identification and Characterization of a Mutation, in the Human UDP-Galactose-4- Epimerase Gene, Associated with Generalized Epimerase-Deficiency Galactosemia

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Identification and Characterization of a Mutation, in the Human UDP-Galactose-4- Epimerase Gene, Associated with Generalized Epimerase-Deficiency Galactosemia Travis M. Wohlers, Nicole C. Christacos, Michelle T. Harreman, Judith L. Fridovich-Keil The American Journal of Human Genetics Volume 64, Issue 2, Pages 462-470 (February 1999) DOI: 10.1086/302263 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 Confirmation of the G269A mutation in genomic DNA. A, Diagram indicating positions of constitutive (unblackened arrows) and mutation-specific (blackened arrow) NcoI restriction sites within a PCR-amplified fragment. B, Ethidium bromide–stained agarose gel demonstrating fragment sizes obtained by PCR amplification and NcoI digestion of genomic DNA from both parents, the patient, and two unrelated controls. Marker band sizes, in kilobases, are indicated to the left. Unblackened arrows to the right indicate wild-type bands, and blackened arrows to the right indicate mutation-specific bands. The American Journal of Human Genetics 1999 64, 462-470DOI: (10.1086/302263) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 2 Growth curves of yBBQ1 yeast expressing the indicated alleles of hGALE cultured in medium containing galactose as the sole carbon source. Each point plotted represents the average ± SD of three cultures. The American Journal of Human Genetics 1999 64, 462-470DOI: (10.1086/302263) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 3 Activity and abundance of wild-type and mutant hGALE enzymes expressed in yeast. Top, Conversion of UDP-gal to UDP-glc detected in crude lysates of yeast expressing each of the indicated hGALE alleles in the homozygous state (n=3). Middle, Average activity values from the top panel divided by average abundance (estimated by densitometric analysis of three independent western blots), normalized to wild-type. Bottom, Representative western blot analyses of lysates probed with antisera that detect hGALE and yeast cyclophilin (an endogenous control for loading). The American Journal of Human Genetics 1999 64, 462-470DOI: (10.1086/302263) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 4 Conversion of UDP-gal to UDP-glc detected in crude lysates of yeast expressing each of the indicated combinations of hGALE alleles (n=3). The American Journal of Human Genetics 1999 64, 462-470DOI: (10.1086/302263) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 5 Impact of temperature on activity of wild-type and mutant hGALE enzymes. Assays were performed on crude lysates of yeast expressing each of the hGALE alleles indicated. Values plotted represent averages ± SD (n=3). The American Journal of Human Genetics 1999 64, 462-470DOI: (10.1086/302263) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 6 Trypsin cleavage of wild-type and mutant hGALE proteins. Yeast lysates prepared from cells expressing the indicated alleles of hGALE were incubated with trypsin for the times indicated and then were subjected to western blot analysis as described in Patients, Material, and Methods. The American Journal of Human Genetics 1999 64, 462-470DOI: (10.1086/302263) Copyright © 1999 The American Society of Human Genetics Terms and Conditions