NDLI: Identification of the molecular defect in factor IX Chapel Hill: substitution of histidine for arginine at position 145.

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Identification of the molecular defect in factor IX Chapel Hill: substitution of histidine for arginine at position 145.

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Identification of the molecular defect in factor IX Chapel Hill: substitution of histidine for arginine at position 145.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Lundblad, R. L. Roberts, H. R. Noyes, C. M. Griffith, M. J.
Abstract	Hemophilia B Chapel Hill is a mild hereditary hemorrhagic disorder in which the factor IX antigen is present in normal amounts but factor IX biological activity is markedly reduced. Previous studies have demonstrated that purified factor IX Chapel Hill has 8% of the activity of normal human factor IX and that the activation of factor IX Chapel Hill is defective in that only one of the two peptide bonds hydrolyzed during activation of normal factor IX is cleaved. The tryptic peptides from normal human factor IX and factor IX Chapel Hill were subjected to analysis by high-performance liquid chromatography. Comparison of the elution profile of the peptides obtained from factor IX Chapel Hill and normal factor IX demonstrated that the tripeptide Leu-Thr-Arg, which is derived from the normal molecule (positions 143-145) immediately amino-terminal from the Arg-Ala peptide bond at 145-146 that is cleaved during the activation of factor IX with factor XIa, was absent in the digest obtained from factor factor IX Chapel Hill. The elongated 'activation peptide' from factor factor IX Chapel Hill was obtained by further high-performance liquid chromatographic fractionation and subjected to primary structure analysis. The following sequence, corresponding to positions 143-147, was obtained: Leu-Thr-His-Ala-Glu. Thus, the primary molecular defect in factor factor IX Chapel Hill is the substitution of histidine for arginine at position 145. This substitution precludes cleavage by factor XIa at this peptide bond, and the activation peptide region remains associated with the light chain of factor IXa Chapel Hill.
ISSN	00278424
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	14
Volume Number	80
Language	English
Publisher	National Academy of Sciences
Publisher Date	1983-09-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Arginine Factor IX Genetics Genetic Variation Histidine Amino Acid Sequence Animals Factor XI Metabolism Factor XIa Hemophilia B Species Specificity Comparative Study Research Support, U.S. Gov't, P.H.S. Multidisciplinary
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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