Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

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.

Type

Journal article

Journal

DNA Seq

Publication Date

1999

Volume

10

Pages

255 - 261

Keywords

Base Sequence, Molecular Sequence Data, Peutz-Jeghers Syndrome, Protein-Serine-Threonine Kinases, RNA, Messenger, Reverse Transcriptase Polymerase Chain Reaction