Autosomal SCID caused by a point mutation in the N-terminus of Jak3: mapping of the Jak3-receptor interaction domain

Details

Serval ID
serval:BIB_779B07998F5A
Type
Article: article from journal or magazin.
Collection
Publications
Title
Autosomal SCID caused by a point mutation in the N-terminus of Jak3: mapping of the Jak3-receptor interaction domain
Journal
EMBO J
Author(s)
Cacalano N. A., Migone T. S., Bazan F., Hanson E. P., Chen M., Candotti F., O'Shea J. J., Johnston J. A.
ISSN
0261-4189 (Print)
ISSN-L
0261-4189
Publication state
Published
Issued date
1999
Volume
18
Number
6
Pages
1549-58
Language
english
Notes
Cacalano, N A
Migone, T S
Bazan, F
Hanson, E P
Chen, M
Candotti, F
O'Shea, J J
Johnston, J A
eng
Research Support, Non-U.S. Gov't
England
EMBO J. 1999 Mar 15;18(6):1549-58.
Abstract
Signaling through the hematopoietic receptors requires activation of receptor-associated Janus (Jak) kinases. For example, Jak1 and Jak3 bind specifically to the IL-2 receptor beta (IL-2Rbeta) and common gamma (gammac) chains, respectively, and initiate biochemical signals critical in controlling immune responses. The region of Jak responsible for receptor interactions, however, is not well characterized. Here we describe a naturally occurring Jak3 mutation from a patient with autosomal severe combined immunodeficiency (SCID), where a single amino acid substitution, Y100C, in Janus homology domain 7 (JH7) prevents kinase-receptor interaction. This mutation also results in a loss of IL-2-induced signaling in a B-cell line derived from this patient. Using mutational analysis we have identified a region of Jak3, including portions of JH6 and JH7, that is sufficient for kinase-receptor contact and show that this segment interacts with the proline-rich Box1 region of the receptor. Furthermore, a Jak3-Jak1 chimera containing only the JH6 and JH7 domains of Jak3 interacts with gammac and can reconstitute IL-2-dependent responses, including receptor phosphorylation and activation of signal transducer and activator of transcription (STAT) 5b. Our results suggest that the N-terminus of Jak kinases is critical for receptor binding, and is therefore likely to determine specificity of Jak kinase-receptor interactions.
Keywords
Cell Line, Humans, Janus Kinase 1, Janus Kinase 3, *Point Mutation, Polymerase Chain Reaction, Protein Binding, Protein-Tyrosine Kinases/*genetics/metabolism, Receptors, Interleukin-2/genetics/physiology, Recombinant Fusion Proteins/metabolism, Severe Combined Immunodeficiency/enzymology/*genetics, Transfection
Pubmed
Open Access
Yes
Create date
01/11/2017 11:29
Last modification date
20/08/2019 15:34
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