Mutations in the BMP pathway in mice support the existence of two molecular classes of holoprosencephaly |
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Authors: | Fernandes Marie Gutin Grigoriy Alcorn Heather McConnell Susan K Hébert Jean M |
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Institution: | Department of Neuroscience, Albert Einstein College of Medicine, Bronx, NY 10461, USA. |
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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. |
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