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Piotrowska, K. ; Pellegata, N.S. ; Rosemann, M. ; Fritz, A. ; Graw, J. ; Atkinson, M.J.

Mapping of a novel MEN-like syndrome locus to rat Chromosome 4.

Mamm. Genome 15, 135-141 (2004)
DOI
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
Multiple endocrine neoplasia-like syndrome (MENX) is a hereditary cancer syndrome in the rat characterized by inborn cataract and multiple tumors affecting the neuroendocrine system developed within the first year of life. The spectrum of affected organs is intermediate between MEN type 1 (MEN1) and MEN type 2 (MEN2) syndromes in human, but, in contrast to them, MENX is inherited in a recessive fashion. Here we report the mapping of the MENX locus to rat Chromosome (Chr) 4 by a genome-wide linkage analysis. This analysis was done in 41 animals obtained from a (Wistar/Nhg x SDwe) x SDwe interstrain backcross, where SDwe (Sprague-Dawley white eye) indicates the affected animals. The MENX disease locus was ultimately mapped to a similar to22-cM interval on Chr 4 that includes the rat homolog of the human RET proto-oncogene. As activating point mutations of RET are known to be responsible for MEN2 in human, we analyzed several markers located in the proximity of Ret for linkage to the disease phenotype. Our data exclude Ret involvement in MENX and establish that a second gene, playing a role in endocrine tumor formation, lies within the distal. part of rat Chr 4. Although heritable human endocrine tumors are quite rare, sporadic tumors of MEN-affected tissues occur at a much higher frequency, and their pathogenesis is poorly understood. The identification of the MENX gene should contribute to our understanding of the genetic mechanisms of neuroendocrine tissue tumorigenesis and may assist in developing new and more appropriate therapeutic strategies for these diseases.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter MULTIPLE ENDOCRINE NEOPLASIA; RET PROTOONCOGENE; FAMILIAL PHEOCHROMOCYTOMA; PITUITARY-TUMORS; MUTATIONS; CLONING; PARAGANGLIOMA; CADHERIN; SOFTWARE; DISEASE
Sprache englisch
Veröffentlichungsjahr 2004
HGF-Berichtsjahr 0
ISSN (print) / ISBN 0938-8990
e-ISSN 1432-1777
Zeitschrift Mammalian Genome
Quellenangaben Band: 15, Heft: 2, Seiten: 135-141 Artikelnummer: , Supplement: ,
Verlag Springer
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Pathology (PATH)
Institute of Developmental Genetics (IDG)
POF Topic(s) 30504 - Mechanisms of Genetic and Environmental Influences on Health and Disease
30204 - Cell Programming and Repair
Forschungsfeld(er) Enabling and Novel Technologies
Genetics and Epidemiology
PSP-Element(e) G-500300-001
G-500500-002
DOI 10.1007/s00335-003-3027-8
Scopus ID 0742324929
Erfassungsdatum 2004-03-22
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