Mutations in the BMP pathway in mice support the existence of two molecular classes of holoprosencephaly

Marie Fernandes, Grigoriy Gutin, Heather Alcorn, Susan K. McConnell, Jean M. Hébert

Research output: Contribution to journalArticle

74 Scopus citations

Abstract

Holoprosencephaly (HPE) is a devastating forebrain abnormality with a range of morphological defects characterized by loss of midline tissue. In the telencephalon, the embryonic precursor of the cerebral hemispheres, specialized cell types form a midline that separates the hemispheres. In the present study, deletion of the BMP receptor genes, Bmpr1b and Bmpr1a, in the mouse telencephalon results in a loss of all dorsal midline cell types without affecting the specification of cortical and ventral precursors. In the holoprosencephalic Shh-/- mutant, by contrast, ventral patterning is disrupted, whereas the dorsal midline initially forms. This suggests that two separate developmental mechanisms can underlie the ontogeny of HPE. The Bmpr1a;Bmpr1b mutant provides a model for a subclass of HPE in humans: midline inter-hemispheric HPE.

Original languageEnglish (US)
Pages (from-to)3789-3794
Number of pages6
JournalDevelopment
Volume134
Issue number21
DOIs
Publication statusPublished - Nov 1 2007

    Fingerprint

Keywords

  • BMP
  • Choroid plexus
  • Cortical hem
  • Dorsal midline
  • Holoprosencephaly
  • SHH
  • Telencephalon

ASJC Scopus subject areas

  • Molecular Biology
  • Developmental Biology

Cite this