Identification of a novel mRNA species of the LKB1/STK11 Peutz-Jeghers serine/threonine kinase

被引:4
作者
Churchman, M
Dowling, B
Tomlinson, IPM
机构
[1] Wellcome Trust Ctr Human Genet, Nuffield Dept Med, Tumour Genet Grp, Oxford OX3 7BN, England
[2] Imperial Canc Res Fund, Mol & Populat Genet Lab, London WC2A 3PX, England
来源
DNA SEQUENCE | 1999年 / 10卷 / 4-5期
关键词
LKB1/STK11; Peutz-Jeghers; novel mRNA species;
D O I
10.3109/10425179909033954
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
Germline mutations in the LKB/STK11 serine/threonine kinase cause Peutz-Jeghers syndrome and this gene is also mutated at a moderate frequency in a wide variety of sporadic tumours. The translated region of LKBZ1/STK11 (1302bp) codes for a serine/threonine kinase of otherwise unknown function. We report a novel LKB1/STK11 mRNA species which is found at variable levels in all tissues examined. The novel mRNA, which we believe may be an unusual splice variant, consists of a 444bp in-frame deletion of exons 5-7 and part of exon 8. This deletion removes a large part of the kinase domain and comparison with other LKB1/STK11 mutations shows that kinase function is undoubtedly abolished. The role of the novel mRNA species remains unclear, but it retains a putative cAMP-dependent kinase phosphorylation site and may play some regulatory role.
引用
收藏
页码:255 / +
页数:8
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