Riedy M C, Dutra A S, Blake T B, Modi W, Lal B K, Davis J, Bosse A, O'Shea J J, Johnston J A
Lymphocyte Cell Biology Section, NIAMS, National Institutes of Health, Bethesda, Maryland 20892, USA.
Genomics. 1996 Oct 1;37(1):57-61. doi: 10.1006/geno.1996.0520.
Members of the Janus (JAK) protein tyrosine kinase family including JAK3 have recently emerged as important components in cytokine signal transduction. Mutations of JAK3 have been found in a number of patients who present with severe combined immunodeficiency. To facilitate the further identification of JAK3-SCID patients and to understand the structure of JAK3 better, we undertook the determination of the genomic sequence, organization, and chromosomal localization of the JAK3 gene. The JAK3 gene was found to consist of 19 exons and 18 introns. Interestingly, the organization of the kinase-(JH1) and pseudokinase-(JH2) domains were found to be dissimilar. In addition, the JAK3 gene was localized to human chromosome 19p13.1. These data should facilitate the identification of patients with this new form of immunodeficiency and will provide insight into the structure of this kinase.
包括JAK3在内的Janus（JAK）蛋白酪氨酸激酶家族成员最近已成为细胞因子信号转导中的重要组成部分。在许多患有严重联合免疫缺陷的患者中发现了JAK3突变。为了便于进一步鉴定JAK3-SCID患者并更好地了解JAK3的结构，我们对JAK3基因的基因组序列、结构和染色体定位进行了测定。发现JAK3基因由19个外显子和18个内含子组成。有趣的是，发现激酶结构域（JH1）和假激酶结构域（JH2）的结构不同。此外，JAK3基因定位于人类染色体19p13.1。这些数据应有助于鉴定这种新型免疫缺陷患者，并将为了解该激酶的结构提供线索。
