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Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
Unbalanced overexpression of the mutant allele in murine Patched mutants.
Carcinogenesis 23, 727-733 (2002)
Inherited mutations of Patched (PTCH) in the nevoid basal cell carcinoma syndrome (NBCCS) lead to several developmental defects and contribute to tumor formation in a variety of tissues. PTCH mutations have been also identified in sporadic tumors associated with NBCCS including basal cell carcinoma (BCC) and medulloblastoma. Mice heterozygous for Ptch recapitulate the typical developmental symptoms of NBCCS and develop rhabdomyosarcoma (RMS) and medulloblastoma. PTCH is assumed to act as a tumor suppressor gene although inactivation of both alleles has been demonstrated only in a fraction of tumors. We have investigated the status of Ptch in RMS of heterozygous Ptch(neo67/+) mice. Although the wild-type Ptch allele was retained in tumor tissue, the high levels of Ptch mRNA in these tumors result from overexpression of the mutant Ptch transcript. Our results suggest that the wild-type Ptch allele might be selectively silenced in RMS tissue or, alternatively, that haploinsufficiency of Ptch is sufficient to promote RMS formation in mice.
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Publikationstyp
Artikel: Journalartikel
Dokumenttyp
Wissenschaftlicher Artikel
Schlagwörter
basal cell caricinoma; RMS; LOH; BCC
ISSN (print) / ISBN
0143-3334
e-ISSN
1460-2180
Zeitschrift
Carcinogenesis
Quellenangaben
Band: 23,
Heft: 5,
Seiten: 727-733
Verlag
Oxford University Press
Begutachtungsstatus
Peer reviewed
Institut(e)
Institute of Pathology (PATH)