The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency
Shiow, Lawrence R; Roadcap, David W; Paris, Kenneth; Watson, Susan R; Grigorova, Irina L; Lebet, Tonya; An, Jinping; Xu, Ying; Jenne, Craig N; Foger, Niko; Sorensen, Ricardo U; Goodnow, Christopher; Bear, James E; Puck, Jennifer M; Cyster, Jason G
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...[Show more]
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