A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects.
JournalArticle (Originalarbeit in einer wissenschaftlichen Zeitschrift)
ID 4519720
Author(s) de la Cruz, June M; Bamford, Richard N; Burdine, Rebecca D; Roessler, Erich; Barkovich, A James; Donnai, Dian; Schier, Alexander F; Muenke, Maximilian
Author(s) at UniBasel Schier, Alexander
Year 2002
Title A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects.
Journal Human genetics
Volume 110
Number 5
Pages / Article-Number 422-8
Mesh terms Amino Acid Motifs; Amino Acid Sequence; Animals; Child, Preschool; Epidermal Growth Factor; Female; GPI-Linked Proteins; Holoprosencephaly, genetics; Homeodomain Proteins; Humans; Intercellular Signaling Peptides and Proteins; Male; Membrane Glycoproteins; Molecular Sequence Data; Mutation, genetics; Neoplasm Proteins, chemistry, genetics; Polymerase Chain Reaction; Prosencephalon, abnormalities; Protein Structure, Tertiary; Sequence Homology, Amino Acid; Transcription Factors; Zebrafish, embryology, genetics; Zebrafish Proteins

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.

ISSN/ISBN 0340-6717
URL https://link.springer.com/article/10.1007%2Fs00439-002-0709-3
Full Text on edoc
Digital Object Identifier DOI 10.1007/s00439-002-0709-3
PubMed ID http://www.ncbi.nlm.nih.gov/pubmed/12073012

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