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.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Amino Acid Motifs
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Amino Acid Sequence
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Animals
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Child, Preschool
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Epidermal Growth Factor*
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Female
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GPI-Linked Proteins
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Holoprosencephaly / genetics*
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Homeodomain Proteins*
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Humans
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Intercellular Signaling Peptides and Proteins
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Male
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Membrane Glycoproteins*
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Molecular Sequence Data
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Mutation / genetics*
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Neoplasm Proteins / chemistry*
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Neoplasm Proteins / genetics*
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Polymerase Chain Reaction
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Prosencephalon / abnormalities*
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Protein Structure, Tertiary
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Sequence Homology, Amino Acid
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Transcription Factors*
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Zebrafish / embryology
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Zebrafish / genetics
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Zebrafish Proteins*
Substances
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GPI-Linked Proteins
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Homeodomain Proteins
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Intercellular Signaling Peptides and Proteins
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Membrane Glycoproteins
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Neoplasm Proteins
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TDGF1 protein, human
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Transcription Factors
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Zebrafish Proteins
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tdgf1 protein, zebrafish
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Epidermal Growth Factor