A serine/threonine kinase gene defective in Peutz-Jegheus syndrome
A serine/threonine kinase gene defective in Peutz-Jegheus syndrome
复制标题
DOI：
10.1038/34432
复制
发表时间：
1998-01-08
期刊：
影响因子：
64.8
通讯作者：
Aaltonen, LA
中科院分区：
文献类型：
--
作者：
Hemminki, A;Markie, D;Aaltonen, LA
Studies of hereditary cancer syndromes have contributed greatly to our understanding of molecular events involved in tumorigenesis. Here we investigate the molecular background of the Peutz-Jeghers syndrome(1,2) (PJS), a rare hereditary disease in which there is predisposition to benign and malignant tumours of many organ systems. A locus for this condition was recently assigned to chromosome 19p (ref. 3). We have identified truncating germline mutations in a gene residing on chromosome 19p in multiple individuals affected by PJS. This previously identified but unmapped gene, LKB1 (ref. 4), has strong homology to a cytoplasmic Xenopus serine/threonine protein kinase XEEK1 (ref. 5), and weaker similarity to many other protein kinases. Peutz-Jeghers syndrome is therefore the first cancer-susceptibility syndrome to be identified that is due to inactivating mutations in a protein kinase.
