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PMID: 12764198 Published · ppublish English Journal Article Research Support, U.S. Gov't, P.H.S.

CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility.

Science (New York, N.Y.) ·Vol. 300 ·No. 5623 ·2003-05-23 ·Pages 1298-300

Kim JM, Wu H, Green G, Winkler CA, Kopp JB, Miner JH, Unanue ER, Shaw AS

Abstract

Loss of CD2-associated protein (CD2AP), a component of the filtration complex in the kidney, causes death in mice at 6 weeks of age. Mice with CD2AP haploinsufficiency developed glomerular changes at 9 months of age and had increased susceptibility to glomerular injury by nephrotoxic antibodies or immune complexes. Electron microscopic analysis of podocytes revealed defects in the formation of multivesicular bodies, suggesting an impairment of the intracellular degradation pathway. Two human patients with focal segmental glomerulosclerosis had a mutation predicted to ablate expression of one CD2AP allele, implicating CD2AP as a determinant of human susceptibility to glomerular disease.

MeSH Terms

Adaptor Proteins, Signal Transducing Animals Antigen-Antibody Complex Basement Membrane/immunology,metabolism,pathology Chromatography, High Pressure Liquid Cytoskeletal Proteins Endocytosis Epithelial Cells/pathology,physiology Exons Ferritins/metabolism Genetic Predisposition to Disease Genetic Variation Glomerular Mesangium/immunology,pathology Glomerulosclerosis, Focal Segmental/genetics,metabolism,pathology Heterozygote Humans Immunoglobulins/analysis Kidney Diseases/genetics,metabolism,pathology Kidney Glomerulus/immunology,metabolism,pathology Mice Mice, Knockout Mutation Polymerase Chain Reaction Polymorphism, Genetic Proteins/genetics,physiology Proteinuria/etiology RNA Splicing

Chemicals

Adaptor Proteins, Signal Transducing Antigen-Antibody Complex CD2-associated protein Cytoskeletal Proteins Immunoglobulins Proteins Ferritins

Authors & Affiliations

8 authors, click to expand affiliations / ORCID

Kim Jeong M

Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO 63110, USA.

Wu Hui

Green Gopa

Winkler Cheryl A

Kopp Jeffrey B

Miner Jeffrey H

Unanue Emil R

Shaw Andrey S

Article Info

Journal

Science (New York, N.Y.)

Abbr.

Science

ISSN

1095-9203

DOI

10.1126/science.1081068

Published

2003-05-23

Pages

1298-300

Language

English

Region

United States

NLM ID

0404511

Subset

External Links

PubMed source DOI: 10.1126/science.1081068 View journal details

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CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility.

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