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A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects

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Cruz García, Jesús Manuel de la and Bamford, Richard N. and Burdine, Rebecca D. and Roessler, Erich and Barkovich, A. James and Donnai, Dian and Schier, Alexander F. and Muenke, Maximiliam (2002) A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects. Human Genetics, 110 (5). pp. 422-428. ISSN 0340-6717

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Official URL: http://dx.doi.org/10.1007/s00439-002-0709-3


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Abstract

TDGF1 (CRIPTO) is an EGF-CFC family member and an obligate co-receptor involved in NODAL signaling, a developmental program implicated in midline, forebrain, and left-right axis development in model organisms. Previous studies of CFC1 (CRYPTIC), another member of the EGF-CFC family, demonstrated that normal function of this protein is required for proper laterality development in humans. Here we identify a mutation in the conserved CFC domain of TDGF1 in a patient with midtine anomalies of the forebrain. The mutant protein is inactive in a zebrafish rescue assay, indicating a role for TDGF1 in human midline and forebrain development.


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© Springer-Verlag 2002.
We sincerely thank j.D. Karkera for assistence with protein prediction algorithms, W.B. Dobyns for reading the brain scans of the patients. R.D.B. is supported by a Cancer Research Fund Fellowship of the Damon Runyon-Walter Winchell Foundation. A.F.S. is a Scholar of the McKnight Endowment Fund for Neuroscience and the Irma T. Hirschl Trust. This work is supported by grants from the NIH (A.F.S.) and by the Division of Intramural Research, NHGRI, NIH (M.M.).

Uncontrolled Keywords:One-Eyed Pinhead, Right Axis Formation, Vertebrate Development, Zebrafish Organizer, Laterality Defects, Gene, Mouse, Gastrulation, Cripto, Requirement
Subjects:Sciences > Computer science
ID Code:26302
Deposited On:18 Jul 2014 07:27
Last Modified:18 Jul 2014 07:27

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