Characterization of single amino acid substitutions in the β2 integrin subunit of patients with leukocyte adhesion deficiency (LAD)-1

被引：11

作者：

Guan, Siyu ^{[1
]}

Tan, Suet-Mien ^{[1
]}

Li, Yan ^{[1
]}

Torres, Jaume ^{[1
]}

Uzel, Gulbu ^{[2
]}

Xiang, Liming ^{[3
]}

Law, S. K. Alex ^{[1
]}

机构：

[1] Nanyang Technol Univ, Sch Biol Sci, Singapore 637551, Singapore

[2] NIAID, Infect Dis Lab, NIH, Bethesda, MD 20892 USA

[3] Nanyang Technol Univ, Sch Phys & Math Sci, Singapore 637551, Singapore

来源：

BLOOD CELLS MOLECULES AND DISEASES | 2015年 / 54卷 / 02期

关键词：

LAD-1; Missense mutation; beta 2 (CD18) integrin; Expression; Cell adhesion; HEMATOLOGICALLY IMPORTANT MUTATIONS; CELL-SURFACE EXPRESSION; TORSION ANGLE DYNAMICS; POINT MUTATION; I-DOMAIN; CD18; MAC-1; LFA-1; ALPHA(L)BETA(2); IDENTIFICATION;

D O I：

10.1016/j.bcmd.2014.11.005

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Leukocyte adhesion deficiency 1 (LAD-1) is caused by defects in the beta 2 integrin subunit. We studied 18 missense mutations, 14 of which fail to support the surface expression of the beta 2 integrins. Integrins with the beta 2-G150D mutation fail to bind ligands, possibly due to the failure of the alpha 1 segment of the beta I domain to assume an et-helical structure. Integrins with the beta 2-G716A mutation are not maintained in their resting states, and the patient has the severe phenotype of LAD-1. The beta 2-S453N and beta 2-P648L mutants support the expression of integrins and adhesion functions. They should be re-classified as polymorphic variants. (C) 2014 Elsevier Inc. All rights reserved.

引用

页码：177 / 182

页数：6

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