Disruption of acvrl1 increases endothelial cell number in zebrafish cranial vessels

BL Roman, VN Pham, ND Lawson, M Kulik, S Childs… - 2002 - journals.biologists.com
2002journals.biologists.com
The zebrafish mutant violet beauregarde (vbg) can be identified at two days post-fertilization
by an abnormal circulation pattern in which most blood cells flow through a limited number
of dilated cranial vessels and fail to perfuse the trunk and tail. This phenotype cannot be
explained by caudal vessel abnormalities or by a defect in cranial vessel patterning, but
instead stems from an increase in endothelial cell number in specific cranial vessels. We
show that vbg encodes activin receptor-like kinase 1 (Acvrl1; also known as Alk1), a TGFβ …
The zebrafish mutant violet beauregarde (vbg) can be identified at two days post-fertilization by an abnormal circulation pattern in which most blood cells flow through a limited number of dilated cranial vessels and fail to perfuse the trunk and tail. This phenotype cannot be explained by caudal vessel abnormalities or by a defect in cranial vessel patterning, but instead stems from an increase in endothelial cell number in specific cranial vessels. We show that vbg encodes activin receptor-like kinase 1 (Acvrl1; also known as Alk1), a TGFβ type I receptor that is expressed predominantly in the endothelium of the vessels that become dilated in vbg mutants. Thus, vbg provides a model for the human autosomal dominant disorder, hereditary hemorrhagic telangiectasia type 2, in which disruption of ACVRL1 causes vessel malformations that may result in hemorrhage or stroke.
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