• Register
X
Forgot Password

If you have forgotten your password you can enter your email here and get a temporary password sent to your email.

X

Leaving Community

Are you sure you want to leave this community? Leaving the community will revoke any permissions you have been granted in this community.

No
Yes

Altered neural cell fates and medulloblastoma in mouse patched mutants.

The PATCHED (PTC) gene encodes a Sonic hedgehog (Shh) receptor and a tumor suppressor protein that is defective in basal cell nevus syndrome (BCNS). Functions of PTC were investigated by inactivating the mouse gene. Mice homozygous for the ptc mutation died during embryogenesis and were found to have open and overgrown neural tubes. Two Shh target genes, ptc itself and Gli, were derepressed in the ectoderm and mesoderm but not in the endoderm. Shh targets that are, under normal conditions, transcribed ventrally were aberrantly expressed in dorsal and lateral neural tube cells. Thus Ptc appears to be essential for repression of genes that are locally activated by Shh. Mice heterozygous for the ptc mutation were larger than normal, and a subset of them developed hindlimb defects or cerebellar medulloblastomas, abnormalities also seen in BCNS patients.

Pubmed ID: 9262482

Authors

  • Goodrich LV
  • Milenković L
  • Higgins KM
  • Scott MP

Journal

Science (New York, N.Y.)

Publication Data

August 22, 1997

Associated Grants

None

Mesh Terms

  • Abnormalities, Multiple
  • Animals
  • Body Patterning
  • Cell Lineage
  • Central Nervous System
  • Cerebellar Neoplasms
  • Ectoderm
  • Endoderm
  • Gene Expression Regulation, Developmental
  • Genes, Tumor Suppressor
  • Heterozygote
  • Homozygote
  • Intracellular Signaling Peptides and Proteins
  • Medulloblastoma
  • Membrane Proteins
  • Mesoderm
  • Mice
  • Mice, Inbred C57BL
  • Mutation
  • Oncogene Proteins
  • Receptors, Cell Surface
  • Trans-Activators
  • Transcription Factors