Splicing and missense mutations in the human FXIIIA gene causing FXIII deficiency: Effects of these mutations on FXIIIA RNA processing and protein structure

British Journal of Haematology

Volumn 103, Issue 2, 1998, Pages 425-428

  Anwar, Rashida ^a   Gallivan, Louise ^a   Miloszewski, Krzysztof J A ^a   Markham, Alexander F ^a  

^a UNIVERSITY OF LEEDS   (United Kingdom)

Author keywords

Factor XIII; FXIIIA structure; Missense mutation; Splicing mutation; Transglutaminase

Indexed keywords

PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE;

ADULT; ARTICLE; BLOOD CLOTTING FACTOR 13 DEFICIENCY; CASE REPORT; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC SCREENING; HUMAN; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN FOLDING; PROTEIN STABILITY; PROTEIN STRUCTURE; RNA PROCESSING; SPLICEOSOME; STRUCTURE ANALYSIS;

ADULT; FACTOR XIII DEFICIENCY; FEMALE; HUMANS; MUTATION, MISSENSE; POINT MUTATION; PROTEIN CONFORMATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; TRANSGLUTAMINASES;

EID: 0031753441     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.1998.01017.x     Document Type: Article

References (12)

1. Anwar, R., Miloszewski, K.J.A. & Markham, A.F. (1989a) Identification of a large deletion, spanning exons 4 to 11 of the human FXIIIA gene, in a factor XIII deficient family. Blood. 91, 149-153.
2. Anwar, R., Miloszewski, K.J.A. & Markham, A.F. (1998b) New splicing mutations in the human factor XIIIA gene, each producing multiple mutant transcripts of varying abundance. Thrombosis and Haemostasis, 79, 1151-1156.
3. Anwar, R., Stewart, A.D., Miloszewski, K.J.A., Losowsky, M.S. & Markham, A.E. (1995) Molecular basis of inherited factor XIII deliciency: identification of multiple mutations provides insights into protein function. British Journal of Haematology, 91, 728-735.
4. Aslam, S., Yee, V.C., Narayan, S., Duraisamy, G. & Standen, G.R. (1997) Structural analysis of a missense mutation (Val414Phe) in the catalytic core domain of the factor XIIIA subunit. British Journal of Haematology, 98, 346-352.
5. Baker, E.N. & Hubbard, R.E. (1984) Hydrogen bonding in globular proteins. Progress in Biophysics and Molecular Biology, 44, 97-179.
6. Collaborative Computational Project Number 4 (1994) The CCP4 suite: programs for protein crystallography. Acta Crystallographia D, 50, 760-763.
7. Kangsadalampai, S., Fargesberth, A., Caglayan, S.H. & Board, P.G. (1996) New mutations causing the premature termination of translation in the A subunit gene of coagulation factor XIII. Thrombosis and Haemostasis, 76, 139-142.
8. Kraulis, P.J. (1991) MOLSCRIPT: a program to produce both detailed and schematic plots of protein structures. Journal of Applied Crystallography, 24, 946-950.
9. Lorand, L., Losowsky, M.S. & Miloszewski, K.J.A. (1980) Human factor XIII fibrin stabilising factor. Progress in Haemostasis and Thrombosis, 5, 245-290.
10. Newton, C.R., Heptinstall, L.E., Summers, C., Super, M., Schwarz, M., Anwar, R., Graham, A., Smith, J.C. & Markham, A.F. (1989) Amplification refractory mutation system for prenatal diagnosis and carrier assessment in cystic fibrosis. Lancet, ii, 1481-1483.
11. Vreken, P., Niessen, R.W.L.M., Peters, M., Schaap, M.C.L., Zuithoff-Rijntjes, J.G.M. & Sturk, A. (1995) A point mutation in an invariant splice acceptor site results in a decreased mRNA level in a patient with severe coagulation factor XIII subunit A deficiency. Thrombosis and Haemostasis, 74, 584-589.
12. Yee, V.C., Pedersen, L.C., Trong, I.L., Bishop, P.D., Stenkamp, R.E. & Teller, D.C. (1994) Three-dimensional structure of a transglutaminase: human blood coagulation factor XIII. Proceedings of the National Academy of Sciences of the United States of America. 91, 7296-7300.