Revised exon-intron structure of human JAK3 locus

European Journal of Human Genetics

Volumn 7, Issue 7, 1999, Pages 837-840

  Brooimans, Rik A ^a   Van Der Slot, Annemarie J ^a   Van Den Berg, Adriënne J A M ^a   Zegers, Ben J M ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

Gene organisation; Gene structure; Immunodeficiency; JAK3; SCID

Indexed keywords

PROTEIN TYROSINE KINASE;

ARTICLE; EXON; GENE STRUCTURE; HUMAN; INTRON; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE HOMOLOGY;

ANIMALS; BASE SEQUENCE; EXONS; HUMANS; INTRONS; JANUS KINASE 3; MICE; MOLECULAR SEQUENCE DATA; PROTEIN-TYROSINE KINASES; SEQUENCE ANALYSIS, DNA;

JANUS; MURINAE;

EID: 0032727077     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200375     Document Type: Article

References (12)

1. Ihle JN: The Janus protein tyrosine kinase family and its role in cytokine signaling. Adv Immunol 1995; 60: 1-35.
2. Taniguchi T: Cytokine signaling through nonreceptor protein tyrosine kinases. Science 1995; 268: 251-255.
3. Kawamura M, McVicar DW, Johnston JA et al: Molecular cloning of L-JAK, a Janus family protein-tyrosine kinase expressed in natural killer cells and activated leukocytes. Proc Natl Acad Sci USA 1994; 91: 6374-6378.
4. Johnston JA, Kawamura M, Kirken RA et al: Phosphoylation and activation of the Jak-3 Janus kinase in response to interleukin-2. Nature 1994; 370: 151-153.
5. Witthuhn BA, Silvennoinen O, Miura O et al: Involvement of the Jak-3 Janus kinase in signalling by interleukins 2 and 4 in lymphoid and myeloid cells. Nature 1994; 378: 153-157.
6. Macchi P, Villa A, Giliani S et al: Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). Nature 1995; 377: 65-68.
7. Russell SM, Tayebi N, Nakajima H et al: Mutation of in a patient with SCID: essential role of Jak3 in lymphoid development. Science 1995; 270: 797-800.
8. Riedy MC, Dutra AS, Blake TB et al: Genomic sequence, organization, and chromosomal localization of human JAK3. Genomics 1996; 37: 57-61.
9. Villa A, Sironi M, Macchi P et al: Monocyte function in severe combined immunodeficient patient with a donor splice site mutation in the Jak3 gene. Blood 1996; 88: 817-823.
10. Kumar A, Toscani A, Rane S, Reddy EP: Structural organization and chromosomal mapping of JAK3 locus. Oncogene 1996; 13: 2009-2014.
11. Lai KS, Jin Y, Graham DK, Witthuhn BA, Ihle JN, Liu ET: A kinase-deficient splice variant of the human JAK3 is expressed in hematopoietic and epithelial cancer cells. J Biol Chem 1995; 270: 25028-25036.
12. Candotti F, Oakes SA, Johnston JA et al: Structural and functional basis for JAK3-deficient severe combined immunodeficiency. Blood 1997; 90: 3996-4003.