Abstract
Germline mutations in STK11 (also known as LKB1) are found in individuals with Peutz-Jeghers syndrome (PJS) manifesting with gastrointestinal polyps that contain a prominent stromal component. Epithelia in polyps of Stk11(+/-) mice can retain a functional copy of Stk11 (refs. 2,3), and loss of heterozygosity is not an obligate feature of human polyps, raising the possibility of non-epithelial origins in tumorigenesis. Here we show that either monoallelic or biallelic loss of murine Stk11 limited to Tagln-expressing mesenchymal cells results in premature postnatal death as a result of gastrointestinal polyps indistinguishable from those in PJS. Stk11-deficient mesenchymal cells produced less TGFbeta, and defective TGFbeta signaling to epithelial cells coincided with epithelial proliferation. We also noted TGFbeta signaling defects in polyps of individuals with PJS, suggesting that the identified stromal-derived mechanism of tumor suppression is also relevant in PJS.
MeSH Terms
AMP-Activated Protein Kinase Kinases
AMP-Activated Protein Kinases
Animals
Blotting, Western
Cell Proliferation
Cells, Cultured/drug effects,metabolism
Epithelial Cells/metabolism,pathology
Female
Fibroblasts/cytology,drug effects,metabolism
Gastrointestinal Tract/metabolism,pathology
Humans
Injections, Intraperitoneal
Integrases/metabolism
Intestinal Polyps/metabolism,pathology
Longevity
Male
Mesoderm/metabolism
Mice
Mice, Inbred C57BL
Mice, Knockout
Microfilament Proteins/genetics,physiology
Muscle Proteins/genetics,physiology
Muscle, Smooth/metabolism,pathology
Peutz-Jeghers Syndrome/metabolism,pathology,prevention & control
Polymerase Chain Reaction
Protein Kinases/metabolism
Protein Serine-Threonine Kinases/physiology
RNA, Messenger/genetics,metabolism
Selective Estrogen Receptor Modulators/administration & dosage
Smad2 Protein
Stromal Cells/metabolism,pathology
TOR Serine-Threonine Kinases
Tamoxifen/administration & dosage
Transforming Growth Factor beta/metabolism
Chemicals
Microfilament Proteins
Muscle Proteins
RNA, Messenger
SMAD2 protein, human
Selective Estrogen Receptor Modulators
Smad2 Protein
Tagln protein, mouse
Transforming Growth Factor beta
Tamoxifen
Protein Kinases
MTOR protein, human
mTOR protein, mouse
Protein Serine-Threonine Kinases
Stk11 protein, mouse
TOR Serine-Threonine Kinases
AMP-Activated Protein Kinase Kinases
AMP-Activated Protein Kinases
Cre recombinase
Integrases
Authors & Affiliations
9 authors, click to expand affiliations / ORCID
Katajisto Pekka
Genome-Scale Biology Program and Institute of Biomedicine, Biomedicum Helsinki, 00014 University of Helsinki, Finland.
Vaahtomeri Kari
Ekman Niklas
Ventelä Eeva
Ristimäki Ari
Bardeesy Nabeel
Feil Robert
DePinho Ronald A
Mäkelä Tomi P