Mutations in the BMP pathway in mice support the existence of two molecular classes of holoprosencephaly Journal Article
| Authors: | Fernandes, M.; Gutin, G.; Alcorn, H.; McConnell, S. K.; Hébert, J. M. |
| Article Title: | Mutations in the BMP pathway in mice support the existence of two molecular classes of holoprosencephaly |
| 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. |
| Keywords: | signal transduction; controlled study; gene mutation; gene deletion; mutation; nonhuman; animal cell; mouse; phenotype; animals; mice; animal tissue; mus; bone morphogenetic protein; embryo; animal experiment; animal model; brain cortex; hedgehog proteins; embryo pattern formation; mutational analysis; mice, transgenic; gene expression regulation, developmental; brain; gene disruption; brain development; gene identification; embryo, mammalian; bone morphogenetic proteins; ontogeny; hemisphere; bmp; telencephalon; choroid plexus; cortical hem; dorsal midline; holoprosencephaly; shh; bone morphogenetic protein receptor 1; protein nodal; cell loss; bone morphogenetic protein receptors, type i |
| Journal Title: | Development |
| Volume: | 134 |
| Issue: | 21 |
| ISSN: | 0950-1991 |
| Publisher: | Company of Biologists |
| Date Published: | 2007-11-01 |
| Start Page: | 3789 |
| End Page: | 3794 |
| Language: | English |
| DOI: | 10.1242/dev.004325 |
| PUBMED: | 17913790 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | --- - "Cited By (since 1996): 29" - "Export Date: 17 November 2011" - "CODEN: DEVPE" - "Source: Scopus" |
