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Structural highlights
Disease
[FA8_HUMAN] Defects in F8 are the cause of hemophilia A (HEMA) [MIM:306700]. A disorder of blood coagulation characterized by a permanent tendency to hemorrhage. About 50% of patients have severe hemophilia resulting in frequent spontaneous bleeding into joints, muscles and internal organs. Less severe forms are characterized by bleeding after trauma or surgery. Note=Of particular interest for the understanding of the function of F8 is the category of CRM (cross-reacting material) positive patients (approximately 5%) that have considerable amount of F8 in their plasma (at least 30% of normal), but the protein is non-functional; i.e. the F8 activity is much less than the plasma protein level. CRM-reduced is another category of patients in which the F8C antigen and activity are reduced to approximately the same level. Most mutations are CRM negative, and probably affect the folding and stability of the protein.[1] [2] [3] [4] [5] [6] [7] [8] [9] [10] [11] [12] [13] [14] [15] [16] [17] [18] [19] [20] [21] [22] [23] [24] [25] [26] [27] [28] [29] [30] [31] [32] [33] [34] [35] [36] [37] [38] [39] [40] [41] [42] [43] [44] [45] [46] [47] [48] [49] [50] [51] [52] [53] [54] [55] [56] [57] [58] [59] [60] [61] [62] [63] [64] [65] [66] [67] [68] [69] [70] [71] [72] [73] [74] [75] [76] [77] [78]
Function
[FA8_HUMAN] Factor VIII, along with calcium and phospholipid, acts as a cofactor for factor IXa when it converts factor X to the activated form, factor Xa.
Publication Abstract from PubMed
Factor VIII (FVIII) is the blood coagulation protein which when defective or deficient causes for hemophilia A, a severe hereditary bleeding disorder. Activated FVIII (FVIIIa) is the cofactor to the serine protease factor IXa (FIXa) within the membrane-bound Tenase complex, responsible for amplifying its proteolytic activity more than 100,000 times, necessary for normal clot formation. FVIII is composed of two noncovalently linked peptide chains: a light chain (LC) holding the membrane interaction sites and a heavy chain (HC) holding the main FIXa interaction sites. The interplay between the light and heavy chains (HCs) in the membrane-bound state is critical for the biological efficiency of FVIII. Here, we present our cryo-electron microscopy (EM) and structure analysis studies of human FVIII-LC, when helically assembled onto negatively charged single lipid bilayer nanotubes. The resolved FVIII-LC membrane-bound structure supports aspects of our previously proposed FVIII structure from membrane-bound two-dimensional (2D) crystals, such as only the C2 domain interacts directly with the membrane. The LC is oriented differently in the FVIII membrane-bound helical and 2D crystal structures based on EM data, and the existing X-ray structures. This flexibility of the FVIII-LC domain organization in different states is discussed in the light of the FVIIIa-FIXa complex assembly and function. (c) 2013 Wiley Periodicals, Inc. Biopolymers 99: 448-459, 2013.
Domain organization of membrane-bound factor VIII.,Stoilova-McPhie S, Lynch GC, Ludtke S, Pettitt BM Biopolymers. 2013 Jul;99(7):448-59. doi: 10.1002/bip.22199. PMID:23616213[79]
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.
See Also
References
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- ↑ Levinson B, Janco R, Phillips J 3rd, Gitschier J. A novel missense mutation in the factor VIII gene identified by analysis of amplified hemophilia DNA sequences. Nucleic Acids Res. 1987 Dec 10;15(23):9797-805. PMID:3122181
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- ↑ Pieneman WC, Reitsma PH, Briet E. Double strand conformation polymorphism (DSCP) detects two point mutations at codon 280 (AAC-->ATC) and at codon 431 (TAC-->AAC) of the blood coagulation factor VIII gene. Thromb Haemost. 1993 May 3;69(5):473-5. PMID:8322269
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- ↑ Pieneman WC, Deutz-Terlouw PP, Reitsma PH, Briet E. Screening for mutations in haemophilia A patients by multiplex PCR-SSCP, Southern blotting and RNA analysis: the detection of a genetic abnormality in the factor VIII gene in 30 out of 35 patients. Br J Haematol. 1995 Jun;90(2):442-9. PMID:7794769
- ↑ Bidichandani SI, Lanyon WG, Shiach CR, Lowe GD, Connor JM. Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype. Hum Genet. 1995 May;95(5):531-8. PMID:7759074
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- ↑ Chan V, Pang A, Chan TP, Chan VW, Chan TK. Molecular characterization of haemophilia A in southern Chinese. Br J Haematol. 1996 May;93(2):451-6. PMID:8639447
- ↑ Rudzki Z, Duncan EM, Casey GJ, Neumann M, Favaloro EJ, Lloyd JV. Mutations in a subgroup of patients with mild haemophilia A and a familial discrepancy between the one-stage and two-stage factor VIII:C methods. Br J Haematol. 1996 Aug;94(2):400-6. PMID:8759905
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- ↑ Tavassoli K, Eigel A, Pollmann H, Horst J. Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations. Hum Genet. 1997 Oct;100(5-6):508-11. PMID:9341862
- ↑ Liu M, Murphy ME, Thompson AR. A domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins. Br J Haematol. 1998 Dec;103(4):1051-60. PMID:9886318
- ↑ Maugard C, Tuffery S, Aguilar-Martinez P, Schved JF, Gris JC, Demaille J, Claustres M. Protein truncation test: detection of severe haemophilia a mutation and analysis of factor VIII transcripts. Hum Mutat. 1998;11(1):18-22. PMID:9450898 doi:<18::AID-HUMU3>3.0.CO;2-H 10.1002/(SICI)1098-1004(1998)11:1<18::AID-HUMU3>3.0.CO;2-H
- ↑ Theophilus BD, Enayat MS, Higuchi M, Kazazian HH, Antonarakis SE, Hill FG. Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophila A with different phenotypes. Mutations in brief no. 126. Online. Hum Mutat. 1998;11(4):334. PMID:10215414 doi:<334::AID-HUMU20>3.0.CO;2-# 10.1002/(SICI)1098-1004(1998)11:4<334::AID-HUMU20>3.0.CO;2-#
- ↑ Freson K, Peerlinck K, Aguirre T, Arnout J, Vermylen J, Cassiman JJ, Matthijs G. Fluorescent chemical cleavage of mismatches for efficient screening of the factor VIII gene. Hum Mutat. 1998;11(6):470-9. PMID:9603440 doi:<470::AID-HUMU8>3.0.CO;2-A 10.1002/(SICI)1098-1004(1998)11:6<470::AID-HUMU8>3.0.CO;2-A
- ↑ Tavassoli K, Eigel A, Dworniczak B, Valtseva E, Horst J. Identification of four novel mutations in the factor VIII gene: three missense mutations (E1875G, G2088S, I2185T) and a 2-bp deletion (1780delTC). Hum Mutat. 1998;Suppl 1:S260-2. PMID:9452104
- ↑ Tavassoli K, Eigel A, Wilke K, Pollmann H, Horst J. Molecular diagnostics of 15 hemophilia A patients: characterization of eight novel mutations in the factor VIII gene, two of which result in exon skipping. Hum Mutat. 1998;12(5):301-3. PMID:9792405 doi:<301::AID-HUMU2>3.0.CO;2-G 10.1002/(SICI)1098-1004(1998)12:5<301::AID-HUMU2>3.0.CO;2-G
- ↑ Laprise SL, Mak EK, Killoran KA, Layman LC, Gray MR. Use of denaturing gradient gel blots to screen for point mutations in the factor VIII gene. Hum Mutat. 1998;12(6):393-402. PMID:9829908 doi:<393::AID-HUMU5>3.0.CO;2-A 10.1002/(SICI)1098-1004(1998)12:6<393::AID-HUMU5>3.0.CO;2-A
- ↑ Williams IJ, Abuzenadah A, Winship PR, Preston FE, Dolan G, Wright J, Peake IR, Goodeve AC. Precise carrier diagnosis in families with haemophilia A: use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis. Thromb Haemost. 1998 Apr;79(4):723-6. PMID:9569180
- ↑ Hay CR, Ludlam CA, Colvin BT, Hill FG, Preston FE, Wasseem N, Bagnall R, Peake IR, Berntorp E, Mauser Bunschoten EP, Fijnvandraat K, Kasper CK, White G, Santagostino E. Factor VIII inhibitors in mild and moderate-severity haemophilia A. UK Haemophilia Centre Directors Organisation. Thromb Haemost. 1998 Apr;79(4):762-6. PMID:9569189
- ↑ Keeling DM, Sukhu K, Kemball-Cook G, Waseem N, Bagnall R, Lloyd JV. Diagnostic importance of the two-stage factor VIII:C assay demonstrated by a case of mild haemophilia associated with His1954-->Leu substitution in the factor VIII A3 domain. Br J Haematol. 1999 Jun;105(4):1123-6. PMID:10554831
- ↑ Strmecki L, Benedik-Dolnicar M, Vouk K, Komel R. Screen of 55 Slovenian haemophilia A patients: identification of 2 novel mutations (S-1R and IVS23+1G-->A) and discussion of mutation spectrum. Mutation in brief no. 241. Online. Hum Mutat. 1999;13(5):413. PMID:10338101 doi:<413::AID-HUMU14>3.0.CO;2-H 10.1002/(SICI)1098-1004(1999)13:5<413::AID-HUMU14>3.0.CO;2-H
- ↑ Moller-Morlang K, Tavassoli K, Eigel A, Pollmann H, Horst J. Mutational-screening in the factor VIII gene resulting in the identification of three novel mutations, one of which is a donor splice mutation. Mutations in brief no. 245. Online. Hum Mutat. 1999;13(6):504. PMID:10408784 doi:<504::AID-HUMU14>3.0.CO;2-9 10.1002/(SICI)1098-1004(1999)13:6<504::AID-HUMU14>3.0.CO;2-9
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- ↑ Jacquemin M, Lavend'homme R, Benhida A, Vanzieleghem B, d'Oiron R, Lavergne JM, Brackmann HH, Schwaab R, VandenDriessche T, Chuah MK, Hoylaerts M, Gilles JG, Peerlinck K, Vermylen J, Saint-Remy JM. A novel cause of mild/moderate hemophilia A: mutations scattered in the factor VIII C1 domain reduce factor VIII binding to von Willebrand factor. Blood. 2000 Aug 1;96(3):958-65. PMID:10910910
- ↑ Liu ML, Shen BW, Nakaya S, Pratt KP, Fujikawa K, Davie EW, Stoddard BL, Thompson AR. Hemophilic factor VIII C1- and C2-domain missense mutations and their modeling to the 1.5-angstrom human C2-domain crystal structure. Blood. 2000 Aug 1;96(3):979-87. PMID:10910913
- ↑ Roelse JC, De Laaf RT, Timmermans SM, Peters M, Van Mourik JA, Voorberg J. Intracellular accumulation of factor VIII induced by missense mutations Arg593-->Cys and Asn618-->Ser explains cross-reacting material-reduced haemophilia A. Br J Haematol. 2000 Feb;108(2):241-6. PMID:10691849
- ↑ Schwaab R, Oldenburg J, Kemball-Cook G, Albert T, Juhler C, Hanfland P, Ingerslev J. Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family. Br J Haematol. 2000 Jun;109(3):523-8. PMID:10886198
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- ↑ Leuer M, Oldenburg J, Lavergne JM, Ludwig M, Fregin A, Eigel A, Ljung R, Goodeve A, Peake I, Olek K. Somatic mosaicism in hemophilia A: a fairly common event. Am J Hum Genet. 2001 Jul;69(1):75-87. Epub 2001 Jun 14. PMID:11410838 doi:S0002-9297(07)61447-5
- ↑ Ivaskevicius V, Jurgutis R, Rost S, Muller A, Schmitt C, Wulff K, Herrmann FH, Muller CR, Schwaab R, Oldenburg J. Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data. Br J Haematol. 2001 Mar;112(4):1062-70. PMID:11298607
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- ↑ Bogdanova N, Lemcke B, Markoff A, Pollmann H, Dworniczak B, Eigel A, Horst J. Seven novel and four recurrent point mutations in the factor VIII (F8C) gene. Hum Mutat. 2001 Dec;18(6):546. PMID:11748850 doi:10.1002/humu.1234
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- ↑ Valleix S, Vinciguerra C, Lavergne JM, Leuer M, Delpech M, Negrier C. Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A. Blood. 2002 Oct 15;100(8):3034-6. PMID:12351418 doi:10.1182/blood-2002-01-0277
- ↑ Mazurier C, Parquet-Gernez A, Gaucher C, Lavergne JM, Goudemand J. Factor VIII deficiency not induced by FVIII gene mutation in a female first cousin of two brothers with haemophilia A. Br J Haematol. 2002 Nov;119(2):390-2. PMID:12406074
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- ↑ Frusconi S, Passerini I, Girolami F, Masieri M, Linari S, Longo G, Morfini M, Torricelli F. Identification of seven novel mutations of F8C by DHPLC. Hum Mutat. 2002 Sep;20(3):231-2. PMID:12203998 doi:10.1002/humu.9052
- ↑ Citron M, Godmilow L, Ganguly T, Ganguly A. High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation. Hum Mutat. 2002 Oct;20(4):267-74. PMID:12325022 doi:10.1002/humu.10119
- ↑ Liu ML, Nakaya S, Thompson AR. Non-inversion factor VIII mutations in 80 hemophilia A families including 24 with alloimmune responses. Thromb Haemost. 2002 Feb;87(2):273-6. PMID:11858487
- ↑ Klopp N, Oldenburg J, Uen C, Schneppenheim R, Graw J. 11 hemophilia A patients without mutations in the factor VIII encoding gene. Thromb Haemost. 2002 Aug;88(2):357-60. PMID:12195713
- ↑ Bicocchi MP, Pasino M, Lanza T, Bottini F, Boeri E, Mori PG, Molinari AC, Rosano C, Acquila M. Analysis of 18 novel mutations in the factor VIII gene. Br J Haematol. 2003 Sep;122(5):810-7. PMID:12930394
- ↑ Habart D, Kalabova D, Novotny M, Vorlova Z. Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE: modeling of 13 novel amino acid substitutions. J Thromb Haemost. 2003 Apr;1(4):773-81. PMID:12871415
- ↑ Yenchitsomanus P, Akkarapatumwong V, Pung-Amritt P, Intorasoot S, Thanootarakul P, Oranwiroon S, Veerakul G, Mahasandana C. Genotype and phenotype of haemophilia A in Thai patients. Haemophilia. 2003 Mar;9(2):179-86. PMID:12614369
- ↑ Bicocchi MP, Pasino M, Lanza T, Bottini F, Molinari AC, Caprino D, Rosano C, Acquila M. Small FVIII gene rearrangements in 18 hemophilia A patients: five novel mutations. Am J Hematol. 2005 Feb;78(2):117-22. PMID:15682412 doi:10.1002/ajh.20234
- ↑ Hill M, Deam S, Gordon B, Dolan G. Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype. Haemophilia. 2005 Mar;11(2):133-41. PMID:15810915 doi:10.1111/j.1365-2516.2005.01069.x
- ↑ Cai XH, Wang XF, Dai J, Fang Y, Ding QL, Xie F, Wang HL. Female hemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII. J Thromb Haemost. 2006 Sep;4(9):1969-74. Epub 2006 Jun 27. PMID:16805874 doi:JTH2105
- ↑ Vencesla A, Corral-Rodriguez MA, Baena M, Cornet M, Domenech M, Baiget M, Fuentes-Prior P, Tizzano EF. Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites. Blood. 2008 Apr 1;111(7):3468-78. doi: 10.1182/blood-2007-08-108068. Epub 2008, Jan 9. PMID:18184865 doi:10.1182/blood-2007-08-108068
- ↑ Albanez S, Ruiz-Saez A, Boadas A, de Bosch N, Porco A. Identification of factor VIII gene mutations in patients with severe haemophilia A in Venezuela: identification of seven novel mutations. Haemophilia. 2011 Sep;17(5):e913-8. doi: 10.1111/j.1365-2516.2011.02500.x. Epub, 2011 Mar 4. PMID:21371196 doi:10.1111/j.1365-2516.2011.02500.x
- ↑ Stoilova-McPhie S, Lynch GC, Ludtke S, Pettitt BM. Domain organization of membrane-bound factor VIII. Biopolymers. 2013 Jul;99(7):448-59. doi: 10.1002/bip.22199. PMID:23616213 doi:10.1002/bip.22199
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