HEMPAS

被引:28
作者
Fukuda, MN [1 ]
机构
[1] Burnham Inst, Glycobiol Program, La Jolla Canc Res Ctr, La Jolla, CA 92037 USA
来源
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE | 1999年 / 1455卷 / 2-3期
关键词
hereditary erythroblastic multinuclearity with positive acidified serum lysis test (HEMPAS); glycosylation deficiency; erythrocyte membrane glycoproteins; MII gene; GnT-II gene; chromosome; 20q11;
D O I
10.1016/S0925-4439(99)00070-8
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Congenital dyserythropoietic anemia type II or HEMPAS (hereditary erythroblastic multinuclearity with positive acidified serum lysis test) is a genetic anemia in humans caused by a glycosylation deficiency. Erythrocyte membrane glycoproteins, such as band 3 and band 4.5, which are normally glycosylated with polylactosamines lack these carbohydrates in HEMPAS. Polylactosamines accumulate as glycolipids in HEMPAS erythrocytes. Analysis of N-glycans from HEMPAS erythrocyte membranes revealed a series of incompletely processed N-glycan structures, indicating defective glycosylation at N-acetylglucosaminyltransferase II (GnT-II) and/or alpha-mannosidase II (MII) steps. Genetic analysis has identified two cases from England in which the MII gene is defective. Mutant mice in which the MII gene was inactivated by homologous recombination resulted in a HEMPAS-like phenotype. On the other hand, linkage analysis of HEMPAS cases from southern Italy excluded MII and GnT-II as the causative gene, but identified a gene on chromosome 20q11. HEMPAS is therefore genetically heterogeneous. Regardless of which gene is defective, HEMPAS is characterized by incomplete processing of N-glycans. The study of HEMPAS will identify hitherto unknown factors affecting N-glycan synthesis. (C) 1999 Published by Elsevier Science B.V. All rights reserved.
引用
收藏
页码:231 / 239
页数:9
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