Inhibition of Vitronectin-Mediated Haptotaxis and Haptoinvasion of MG-63 Cells by Domain 5 (D5H) of Human High-Molecular-Weight Kininogen and Identification of a Minimal Amino Acid Sequence

2001 ◽  
Vol 288 (4) ◽  
pp. 975-980 ◽  
Author(s):  
Fumiaki Kamiyama ◽  
Tosinaga Maeda ◽  
Takuya Yamane ◽  
Yao-Hua Li ◽  
Osamu Ogukubo ◽  
...  
Keyword(s):  
Molecular Weight ◽  
Amino Acid ◽  
Amino Acid Sequence ◽  
High Molecular Weight ◽  
High Molecular Weight Kininogen

Characterization of molecular defects of Fitzgerald trait and another novel high-molecular-weight kininogen-deficient patient: insights into structural requirements for kininogen expression

Blood ◽  
2003 ◽  
Vol 101 (11) ◽  
pp. 4430-4436 ◽  
Author(s):  
Yelena Krijanovski ◽  
Valerie Proulle ◽  
Fakhri Mahdi ◽  
Marie Dreyfus ◽  
Werner Müller-Esterl ◽  
...  
Keyword(s):  
Molecular Weight ◽  
Amino Acid ◽  
High Molecular Weight ◽  
Stop Codon ◽  
Premature Stop Codon ◽  
Amino Acid Residues ◽  
High Molecular Weight Kininogen ◽  
Basilar Artery Thrombosis ◽  
Domain 3 ◽  
Exon 10

Abstract A 6-year-old male with vertebral-basilar artery thrombosis was recognized to have high-molecular-weight kininogen (HK) deficiency. The propositus had no HK procoagulant activity and antigen (< 1%). Using monoclonal antibodies (Mabs) to kininogen domain 3, the propositus, family members, and Fitzgerald plasma were determined to have detectable low-molecular-weight kininogen. Mabs to HK domains 5 and 6 do not detect HK antigen in the propositus' plasma. The propositus has a single base pair (bp) deletion in cDNA position 1492 of exon 10 affecting amino acid 480 of the mature protein and resulting in a frameshift and a premature stop codon at position 1597 (amino acid 532). Unexpectedly, Mabs to the heavy chain and domain 5 of HK detect a 92-kDa form of HK in Fitzgerald plasma, the first HK-deficient plasma. The 92-kDa Fitzgerald HK has amino acid residues through 502, corresponding to domains 1 through 5, but lacks epitopes of domain 6 (positions 543 to 595). Fitzgerald DNA has a normal exon 10, but a 17-bp mutation in intron 9. These combined results indicate that mutations in the kininogen gene may differentially affect biosynthesis, processing, and/or secretion of HK.

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