title: Identification of a novel mRNA species of the LKB1/STK11 Peutz-Jeghers serine/threonine kinase.
abstract: Germline mutations in the LKB1/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 LKB1/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.
authors.affiliation: Nuffield Dept of Medicine, Wellcome Trust Centre for Human Genetics, Headington, Oxford, UK.
authors.forename: M
authors.initials: M
authors.lastname: Churchman
authors.forename: B
authors.initials: B
authors.lastname: Dowling
authors.forename: I P
authors.initials: IP
authors.lastname: Tomlinson
mesh_terms: D000091162:AMP-Activated Protein Kinase Kinases; D001483:Base Sequence; D008969:Molecular Sequence Data; D010580:Peutz-Jeghers Syndrome / Q000201:enzymology*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D012333:RNA, Messenger; D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases