Revised exon-intron structure of human JAK3 locus

被引：5

作者：

Brooimans, RA ^{[1
]}

van der Slot, AJ ^{[1
]}

van den Berg, AJAM ^{[1
]}

Zegers, BJM ^{[1
]}

机构：

[1] Univ Utrecht, Wilhelmina Childrens Hosp, Med Ctr, Dept Pediat Immunol, NL-3508 AB Utrecht, Netherlands

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 1999年 / 7卷 / 07期

关键词：

JAK3; gene structure; gene organisation; SCID; immunodeficiency;

D O I：

10.1038/sj.ejhg.5200375

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Jak3, a member of the Jams tyrosine kinase family is an intracellular kinase functionally coupled to cytokine receptors that share a common gamma chain (gamma(c)). Defects in the gamma(c) or Jak3 result in T-B+ severe combined immunodeficiency (SCID). In order to clarify discrepancies between earlier reported genomic organisations of human JAK3, the present study was undertaken to redefine its whole exon-intron structure. The genomic structure of human JAK3 consists of 23 exons and 22 introns, and shows strong homology with the organisation of the murine JAK3 locus. The exon-intron sequences provided in this report can be used to facilitate the identification of new Jak3-deficient SCID patients, including prenatal diagnosis.

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收藏

页码：837 / 840

页数：4

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