PUBLICATION
A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects
- Authors
- de la Cruz, J.M., Bamford, R.N., Burdine, R.D., Roessler, E., Barkovich, A.J., Donnai, D., Schier, A.F., and Muenke, M.
- ID
- ZDB-PUB-020701-10
- Date
- 2002
- Source
- Human genetics 110(5): 422-428 (Journal)
- Registered Authors
- Burdine, Rebecca, Schier, Alexander
- Keywords
- none
- MeSH Terms
-
- Amino Acid Sequence
- Mutation/genetics*
- Transcription Factors*
- Intercellular Signaling Peptides and Proteins
- Neoplasm Proteins/chemistry*
- Neoplasm Proteins/genetics*
- Molecular Sequence Data
- Child, Preschool
- Zebrafish Proteins*
- Homeodomain Proteins*
- Animals
- Epidermal Growth Factor*
- Polymerase Chain Reaction
- Protein Structure, Tertiary
- Amino Acid Motifs
- Sequence Homology, Amino Acid
- Humans
- Prosencephalon/abnormalities*
- Zebrafish/embryology
- Zebrafish/genetics
- Holoprosencephaly/genetics*
- GPI-Linked Proteins
- Male
- Membrane Glycoproteins*
- Female
- PubMed
- 12073012 Full text @ Hum. Genet.
Citation
de la Cruz, J.M., Bamford, R.N., Burdine, R.D., Roessler, E., Barkovich, A.J., Donnai, D., Schier, A.F., and Muenke, M. (2002) A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects. Human genetics. 110(5):422-428.
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 midline 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.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping