| First Author | Fernandes M | Year | 2007 |
| Journal | Development | Volume | 134 |
| Issue | 21 | Pages | 3789-94 |
| PubMed ID | 17913790 | Mgi Jnum | J:126436 |
| Mgi Id | MGI:3761246 | Doi | 10.1242/dev.004325 |
| Citation | Fernandes M, et al. (2007) Mutations in the BMP pathway in mice support the existence of two molecular classes of holoprosencephaly. Development 134(21):3789-94 |
| abstractText | 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. |
