Journal Article

Unbalanced overexpression of the mutant allele in murine <i>Patched</i> mutants

Julia Calzada-Wack, Roland Kappler, Udo Schnitzbauer, Thomas Richter, Michaela Nathrath, Michael Rosemann, Stephan N. Wagner, Rüdiger Hein and Heidi Hahn

in Carcinogenesis

Volume 23, issue 5, pages 727-734
Published in print May 2002 | ISSN: 0143-3334
Published online May 2002 | e-ISSN: 1460-2180 | DOI:
Unbalanced overexpression of the mutant allele in murine Patched mutants

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  • Clinical Cytogenetics and Molecular Genetics


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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.

Keywords: BCC, basal cell carcinoma; LOH, loss of heterozygosity; NBCCS, nevoid basal cell carcinoma syndrome; RMS, rhabdomyosarcoma.

Journal Article.  6196 words.  Illustrated.

Subjects: Clinical Cytogenetics and Molecular Genetics

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