title: Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure.
abstract: The X-lined gene for Norrie disease, which is characterized by blindness, deafness and mental retardation has been cloned recently. This gene has been thought to code for a putative extracellular factor; its predicted amino acid sequence is homologous to the C-terminal domain of diverse extracellular proteins. Sequence pattern searches and three-dimensional modelling now suggest that the Norrie disease protein (NDP) has a tertiary structure similar to that of transforming growth factor beta (TGF beta). Our model identifies NDP as a member of an emerging family of growth factors containing a cystine knot motif, with direct implications for the physiological role of NDP. The model also sheds light on sequence related domains such as the C-terminal domain of mucins and of von Willebrand factor.
authors.affiliation: Abteilung für Pädiatrische Genetik, Ludwig-Maximilians-Universität, München, Germany.
authors.forename: T
authors.initials: T
authors.lastname: Meitinger
authors.forename: A
authors.initials: A
authors.lastname: Meindl
authors.forename: P
authors.initials: P
authors.lastname: Bork
authors.forename: B
authors.initials: B
authors.lastname: Rost
authors.forename: C
authors.initials: C
authors.lastname: Sander
authors.forename: M
authors.initials: M
authors.lastname: Haasemann
authors.forename: J
authors.initials: J
authors.lastname: Murken
mesh_terms: D000595:Amino Acid Sequence; D001766:Blindness / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008958:Models, Molecular; D008969:Molecular Sequence Data; D017434:Protein Structure, Tertiary; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome; D014841:von Willebrand Factor
chemical_list: D014841:von Willebrand Factor