MOLECULAR MODELING OF THE NORRIE DISEASE PROTEIN PREDICTS A CYSTINE KNOT GROWTH-FACTOR TERTIARY STRUCTURE

被引:149
作者
MEITINGER, T
MEINDL, A
BORK, P
ROST, B
SANDER, C
HAASEMANN, M
MURKEN, J
机构
[1] EUROPEAN MOLEC BIOL LAB,D-69012 HEIDELBERG,GERMANY
[2] MAX DELBRUCK CTR MOLEC MED,D-13122 BERLIN,GERMANY
[3] INST JACQUES MONOD,F-75251 PARIS,FRANCE
关键词
D O I
10.1038/ng1293-376
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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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页码:376 / 380
页数:5
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