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Pellegata, N.S. ; Quintanilla-Martinez, L. ; Siggelkow, H.* ; Samson, E. ; Bink, K. ; Höfler, H. ; Fend, F.* ; Graw, J. ; Atkinson, M.J.*

Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans.

Proc. Natl. Acad. Sci. U.S.A. 103, 15558-15563 (2006)
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MENX is a recessive multiple endocrine neoplasia-like syndrome in the rat. The tumor spectrum in MENX overlaps those of human multiple endocrine neoplasia (MEN) types 1 and 2. We mapped the MenX locus to the distal part of rat chromosome 4, excluding the homologs of the genes responsible for the MEN syndromes (RET and MEN1) and syndromes with an endocrine tumor component (VHL and NF1). We report the fine mapping of the disease locus and the identification of a homozygous frameshift mutation in Cdkn1b, encoding the cyclin-dependent kinase inhibitor p27(Kip1). As a consequence of the mutation, MENX-affected rats show dramatic reduction in p27(Kip1) protein. We have identified a germ-line nonsense mutation in the human CDKN1B gene in a MEN1 mutation-negative patient presenting with pituitary and parathyroid tumors. Expanded pedigree analysis shows that the mutation is associated with the development of an MEN1-like phenotype in multiple generations. Our findings demonstrate that germ-line mutations in p27(Kip1) can predispose to the development of multiple endocrine tumors in both rats and humans.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter cancer; tumor suppression; cyclin-dependent kinase inhibitor; PITUITARY-TUMORS; MICE LACKING; GENE; GROWTH; EXPRESSION; FEATURES; TYPE-1; MALIGNANCIES; HYPERPLASIA; INHIBITORS
Sprache englisch
Veröffentlichungsjahr 2006
HGF-Berichtsjahr 2006
ISSN (print) / ISBN 0027-8424
e-ISSN 1091-6490
Zeitschrift Proceedings of the National Academy of Sciences of the United States of America
Quellenangaben Band: 103, Heft: 42, Seiten: 15558-15563 Artikelnummer: , Supplement: ,
Verlag National Academy of Sciences
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Pathology (PATH)
Institute of Developmental Genetics (IDG)
POF Topic(s)
30204 - Cell Programming and Repair
Forschungsfeld(er) Enabling and Novel Technologies
Genetics and Epidemiology
PSP-Element(e) FE 70332
G-500500-002
PubMed ID 17030811
DOI 10.1073/pnas.0603877103
WOS ID 000241476200052
Scopus ID 33750361636
Erfassungsdatum 2006-10-24
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