N-glycolylneuraminic acid deficiency in humans

Bibliographic Collection: 
CARTA-Inspired Publication
Publication Type: Journal Article
Authors: Ajit Varki
Year of Publication: 2001
Journal: Biochimie
Volume: 83
Edition: 2001/08/28
Number: 7
Pagination: 615-22
Date Published: Jul
Type of Article: Comparative StudyResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, P.H.S.Review
Publication Language: eng
ISBN Number: 0300-9084 (Print)0300-90
Keywords: Animals, Fetus, Gene Deletion, Humans, Mixed Function Oxygenases/*deficiency/*genetics/metabolism, Neoplasms/metabolism, Neuraminic Acids/*metabolism, Sialic Acids/metabolism
Abstract:

Classic studies suggested that the common mammalian sialic acid N-glycolylneuraminic acid (Neu5Gc) is an oncofetal antigen in humans, being immunogenic in adult humans and yet apparently expressed in human fetuses and tumors. We and others have recently found that the human deficiency of Neu5Gc can be explained by an inactivating mutation in the gene encoding CMP-N-acetylneuraminic acid hydroxylase. Thus, Neu5Gc is not an oncofetal antigen in the classical sense, and other explanations must be found for the observed expression pattern. This review provides an update on this matter, and considers a variety of other old and new questions that arise from it.

Notes:

Biochimie. 2001 Jul;83(7):615-22. 

Alternate Journal: Biochimie
Author Address:

Glycobiology Research and Training Center and Department of Medicine, University of California, San Diego, La Jolla, CA 92093-0687, USA. avarki@ucsd.edu

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