Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure

Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure

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 extracellula...

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Bibliographic Details
Published in:Nature genetics Vol. 5; no. 4; pp. 376 - 380
Main Authors: Meitinger, Thomas, Meindl, Alfons, Bork, Peer, Rost, Burkhart, Sander, Chris, Haasemann, Martina, Murken, Jan
Format: Journal Article
Language:English
Published: United States 01-12-1993
Subjects:
Amino Acid Sequence
Blindness - genetics
Deafness - genetics
homology
Humans
Intellectual Disability - genetics
man
Models, Molecular
Molecular Sequence Data
Norrie's disease
Norrie's disease protein
Protein Structure, Tertiary
Sex Chromosome Aberrations - genetics
tertiary structure
transforming growth factor- beta
von Willebrand Factor
X Chromosome
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Summary: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.
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ISSN:1061-4036
1546-1718
DOI:10.1038/ng1293-376