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| DISTINCT AND OVERLAPPING FUNCTIONS OF ALLELIC FORMS OF HUMAN MANNOSE BINDING-PROTEIN |
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| Author(s): SUPER M, GILLIES SD, FOLEY S, SASTRY K, SCHWEINLE JE, SILVERMAN VJ, EZEKOWITZ RAB |
| Source: NATURE GENETICS Volume: 2 Issue: 1 Pages: 50-55 Published: SEP 1992 |
| Times Cited: 116 References: 30 |
| Abstract: Human mannose binding protein (MBP) is a C-type serum lectin involved in first-line host defense against a variety of bacterial, fungal and viral pathogens. Recently an association was found between low levels of serum MBP and an increased frequency of recurrent infections in infants. A particular genotype, in which glycine is substituted by aspartic acid at codon 54 of MBP in the fifth collagen repeat, shows apparent concordance with the clinical phenotype. We report, however, that this genotype occurs in 5% of the population and encodes a functional protein. Our results indicate that the Gly54Asp allele does not account for a deficiency state, but instead suggest that MBP may have two predominant allelic forms that have overlapping function and differ only in their ability to activate the classical pathway of complement. |
| Document Type: Article |
| Language: English |
| Reprint Address: SUPER, M (reprint author), HARVARD UNIV, CHILDRENS HOSP, DEPT PEDIAT, DIV HEMATOL ONCOL, BOSTON, MA 02115 USA |
Addresses:
1. HARVARD UNIV, SCH MED, DANA FARBER CANC INST, BOSTON, MA 02115 USA
2. ABBOTT BIOTECH INC, NEEDHAM, MA USA
3. YALE UNIV, SCH MED, DEPT INTERNAL MED, DIV INFECT DIS, NEW HAVEN, CT 06510 USA
4. BOSTON UNIV, SCH MED, DIV HEMATOL ONCOL, BOSTON, MA 02118 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: JM646 |
| ISSN: 1061-4036 |
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