A yeast model reveals biochemical severity associated with each of three variant alleles of galactose-1P uridylyltransferase segregating in a single family.

Journal of Inherited Metabolic Disease
J S ChhayJ L Fridovich-Keil

Abstract

Classic galactosaemia is a potentially lethal inborn error of metabolism that results from profound impairment of galactose-1P uridylyltransferase (GALT). Like many autosomal recessive disorders, classic galactosaemia demonstrates marked allelic heterogeneity; many if not most patients are compound heterozygotes. Owing in part to the fact that most GALT mutations are never observed in patients in the homozygous state, in part to concerns of possible allelic interaction, and in part to the broad range of GALT activity levels associated with the affected, carrier, and control states, definition of the specific functional consequence of individual variant GALT alleles from studies of clinical samples alone can be a challenging task. To overcome this problem we previously developed and applied a null-background yeast system to enable functional analyses of human GALT alleles expressed individually or in defined pairs. We report here the application of this system to characterize three distinct variant alleles of GALT identified within a single family. Of these alleles, one carried a missense mutation (K285N) that has previously been reported and characterized, one carried a nonsense mutation (R204X) that has previously been reporte...Continue Reading

References

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Citations

Jan 16, 2013·Journal of Inherited Metabolic Disease·Emily L RyanJudith L Fridovich-Keil
Oct 1, 2011·IUBMB Life·Thomas J McCorvie, David J Timson
Jan 24, 2015·Molecular Genetics & Genomic Medicine·Ana I CoelhoJoão B Vicente
Apr 16, 2013·Biochimica Et Biophysica Acta·Thomas J McCorvieDavid J Timson
Jun 30, 2012·Molecular Genetics and Metabolism·Ying LiuJudith L Fridovich-Keil
Feb 14, 2018·The Bone & Joint Journal·M TarabichiJ Parvizi
May 22, 2013·The Journal of Clinical Endocrinology and Metabolism·Jessica B SpencerJudith L Fridovich-Keil
Aug 21, 2009·The New England Journal of Medicine·Jose L Del Pozo, Robin Patel
Dec 7, 2019·Journal of Inherited Metabolic Disease·Minela HaskovicM Estela Rubio-Gozalbo

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