| | |  | | | | Record from Web of Science® | | | | | | |
| DEFICIENCY OF THE GPI ANCHOR CAUSED BY A SOMATIC MUTATION OF THE PIG-A GENE IN PAROXYSMAL-NOCTURNAL HEMOGLOBINURIA |
|
|
| Author(s): TAKEDA J, MIYATA T, KAWAGOE K, IIDA Y, ENDO Y, FUJITA T, TAKAHASHI M, KITANI T, KINOSHITA T |
| Source: CELL Volume: 73 Issue: 4 Pages: 703-711 Published: MAY 21 1993 |
| Times Cited: 426 References: 52 |
| Abstract: Paroxysmal nocturnal hemoglobinuria is an acquired hematopoietic disease characterized by abnormal blood cell populations in which the biosynthesis of the glycosylphosphatidylinositol (GPI) anchor is deficient. Deficiency of surface expressions of GPI-anchored complement inhibitors leads to complement-mediated hemolysis. Here we report that PIG-A, which participates in the early step of GPI anchor biosynthesis, is the gene responsible for paroxysmal nocturnal hemoglobinuria. Affected granulocytes and B lymphocytes had the same somatic mutation of PIG-A, indicating their clonal origin from a multipotential hematopoietic stem cell. We localized PIG-A to the X chromosome, which accounts for expression of the recessive phenotype of the somatic mutation and the fact that the same one of the multiple biosynthetic steps is affected in all patients so far characterized. |
| Document Type: Article |
| Language: English |
| Reprint Address: TAKEDA, J (reprint author), OSAKA UNIV, MICROBIAL DIS RES INST, DEPT IMMUNOREGULAT, SUITA, OSAKA 565 JAPAN |
Addresses:
1. OSAKA UNIV, MICROBIAL DIS RES INST, DEPT INTERNAL MED, SUITA, OSAKA 565 JAPAN
2. NAGOYA UNIV, BRANCH HOSP, SCH MED, DEPT INTERNAL MED, NAGOYA 461, JAPAN
3. FUKUSHIMA MED COLL, DEPT BIOCHEM, FUKUSHIMA 96012, JAPAN |
| Publisher: CELL PRESS, 1050 MASSACHUSETTES AVE, CIRCULATION DEPT, CAMBRIDGE, MA 02138 |
| Subject Category: Biochemistry & Molecular Biology; Cell Biology |
| IDS Number: LD830 |
| ISSN: 0092-8674 |
|
| | | | | | | | | Record from Web of Science® | | | | | | | | | |