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PMID:18836449
| Citation |
Shiow, LR, Roadcap, DW, Paris, K, Watson, SR, Grigorova, IL, Lebet, T, An, J, Xu, Y, Jenne, CN, Föger, N, Sorensen, RU, Goodnow, CC, Bear, JE, Puck, JM and Cyster, JG (2008) The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency. Nat. Immunol. 9:1307-15 |
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| Abstract |
Mice carrying the recessive locus for peripheral T cell deficiency (Ptcd) have a block in thymic egress, but the mechanism responsible is undefined. Here we found that Ptcd T cells had an intrinsic migration defect, impaired lymphoid tissue trafficking and irregularly shaped protrusions. Characterization of the Ptcd locus showed a point substitution of lysine for glutamic acid at position 26 in the actin regulator coronin 1A that enhanced its inhibition of the actin regulator Arp2/3 and resulted in its mislocalization from the leading edge of migrating T cells. The discovery of another coronin 1A mutant during an N-ethyl-N-nitrosourea-mutagenesis screen for T cell-lymphopenic mice prompted us to evaluate a T cell-deficient, B cell-sufficient and natural killer cell-sufficient patient with severe combined immunodeficiency, whom we found had mutations in both CORO1A alleles. Our findings establish a function for coronin 1A in T cell egress, identify a surface of coronin involved in Arp2/3 regulation and demonstrate that actin regulation is a biological process defective in human and mouse severe combined immunodeficiency. |
| Links |
PubMed PMC2672406 Online version:10.1038/ni.1662 |
| Keywords |
Actin-Related Protein 2-3 Complex/antagonists & inhibitors; Actin-Related Protein 2-3 Complex/metabolism; Actins/metabolism; Alleles; Amino Acid Substitution; Animals; Cell Movement/genetics; Cell Movement/immunology; Cell Shape; Female; Glutamic Acid/genetics; Humans; Lysine/genetics; Male; Mice; Mice, Inbred ICR; Mice, Knockout; Microfilament Proteins/genetics; Microfilament Proteins/physiology; Mutation; Severe Combined Immunodeficiency/genetics; Severe Combined Immunodeficiency/immunology; T-Lymphocytes/immunology; Thymus Gland/immunology |
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Significance
Annotations
| Gene product | Qualifier | GO ID | GO term name | Evidence Code | with/from | Aspect | Notes | Status |
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