A novel Alu-mediated 61-kb deletion of the von Willebrand factor (VWF) gene whose breakpoints co-locate with putative matrix attachment regions

Blood Cells, Molecules, and Diseases

Volumn 36, Issue 3, 2006, Pages 385-391

  Xie, Fei ^a,b   Wang, Xuefeng ^a   Cooper, David N ^c   Chuzhanova, Nadia ^c   Fang, Yi ^a   Cai, Xiaohong ^a   Wang, Zhenyi ^a   Wang, Hongli ^a  

^a SHANGHAI JIAO TONG UNIVERSITY   (China)

^b FUZHOU GENERAL HOSPITAL   (China)

^c CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

Gene deletion; Matrix attachment region; Type 3 von Willebrand disease

Indexed keywords

GENOMIC DNA; VON WILLEBRAND FACTOR;

ADOLESCENT; ARTICLE; COMPUTER MODEL; GENE DELETION; GENE LOCATION; GENE MUTATION; HUMAN; INTRON; MALE; MATRIX ATTACHMENT REGION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; VON WILLEBRAND DISEASE;

ADOLESCENT; ALU ELEMENTS; BASE SEQUENCE; CLONING, MOLECULAR; DNA MUTATIONAL ANALYSIS; HUMANS; MALE; MATRIX ATTACHMENT REGIONS; SEQUENCE DELETION; VON WILLEBRAND DISEASE; VON WILLEBRAND FACTOR;

EID: 33646844472     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2006.03.003     Document Type: Article

References (29)

1. Mendolicchio G.L., and Ruggeri Z.M. New perspectives on von Willebrand factor functions in hemostasis and thrombosis. Semin. Hematol. 42 (2005) 5-14
2. Mancuso D.J., Tuley E.A., Westfield L.A., Worrall N.K., Shelton-Inloes B.B., Sorace J.M., Alevy Y.G., and Sadler J.E. Structure of the gene for human von Willebrand factor. J. Biol. Chem. 264 (1998) 19514-19527
3. Mannucci P.M., Bloom A.L., Larrieu M.J., Nilsson I.M., and West R.R. Atherosclerosis and von Willebrand factor: I. Prevalence of severe von Willebrand's disease in western Europe and Israel. Br. J. Haematol. 57 (1984) 163-169
4. Shelton-Inloes B.B., Chehab F.F., Mannucci P.M., Federici A.B., and Sadler J.E. Gene deletions correlate with the development of alloantibodies in von Willebrand disease. J. Clin. Invest. 79 (1987) 1459-1465
5. Ngo K.Y., Glotz V.T., Koziol J.A., Lynch D.C., Gitschier J., Ranieri P., Ciavarella N., Ruggeri Z.M., and Zimmerman T.S. Homozygous and heterozygous deletions of the von Willebrand factor gene in patients and carriers of severe von Willebrand disease. Proc. Natl. Acad. Sci. U. S. A. 85 (1988) 2753-2757
6. Peake I.R., Liddell M.B., Moodie P., Standen G., Mancuso D.J., Tuley E.A., Westfield L.A., Sorace J.M., Sadler J.E., Verweij C.L., and Bloom A.L. Severe type III von Willebrand's disease caused by deletion of exon 42 of the von Willebrand factor gene: family studies that identify carriers of the condition and a compound heterozygous individual. Blood 75 (1990) 654-661
7. Mancuso D.J., Tuley E.A., Castillo R., de Bosch N., Mannucci P.M., and Sadler J.E. Characterization of partial gene deletions in type III von Willebrand disease with alloantibody inhibitors. Thromb. Haemost. 72 (1994) 180-185
8. Schneppenheim R., Krey S., Bergmann F., Bock D., Budde U., Lange M., Linde R., Mittler U., Meili E., Mertes G., Olek K., Plendl H., and Simeoni E. Genetic heterogeneity of severe von Willebrand disease type III in the German population. Hum. Genet. 94 (1994) 640-652
9. Eikenboom J.C.J., Castaman G., Vos H.L., Bertina R.M., and Rodeghiero F. Characterization of the genetic defects in recessive type 1 and type 3 von Willebrand disease patients of Italian origin. Thromb. Haemost. 79 (1998) 709-717
10. Abuzenadah A.M., Gursel T., Ingerslev J., Nesbitt I.M., Peake I.R., and Goodeve A.C. Mutational analysis of the von Willebrand factor gene in 27 families from Turkey with von Willebrand disease. Thromb. Haemost. 82 (1999) 283 (Suppl)
11. Surdhar G.K., Enayat M.S., Lawson S., Williams M.D., and Hill F.G.H. Multiple mutations in vWF gene of boy with severe von Willebrand disease. Thromb. Haemost. 82 (1999) 583 (Suppl)
12. Baronciani L., Cozzi G., Canciani M.T., Peyvandi F., Srivastava A., Federici A.B., and Mannucci P.M. Molecular characterization of a multiethnic group of 21 patients with type 3 von Willebrand disease. Thromb. Haemost. 84 (2000) 536-540
13. Abeysinghe S.S., Chuzhanova N., Krawczak M., Ball E.V., and Cooper D.N. Translocation and gross deletion breakpoints in human inherited disease and cancer I: nucleotide composition and recombination-associated motifs. Hum. Mutat. 22 (2003) 229-244
14. Gusev V.D., Nemytikova L.A., and Chuzhanova N.A. On the complexity measures of genetic sequences. Bioinformatics 15 (1999) 994-999
15. Razin S.V. Matrix-associated regions (MARs) and scaffold attachment regions (SARs). In: Cooper D.N. (Ed). Nature Encyclopedia of the Human Genome vol. 3 (2003), Nature Publishing Group 850-852
16. Sperry A.O., Blasquez V.C., and Garrard W.T. Dysfunction of chromosomal loop attachment sites: illegitimate recombination linked to matrix association regions and topoisomerase II. Proc. Natl. Acad. Sci. U. S. A. 86 (1989) 5497-5501
17. Dong S., Geng J.P., Tong J.H., Wu Y., Cai J.R., Sun G.L., Chen S.R., Wang Z.Y., Larsen C.J., and Berger R. Breakpoint clusters of the PML gene in acute promyelocytic leukemia: primary structure of the reciprocal products of the PML-RARA gene in a patient with t(15;17). Genes Chromosom. Cancer 6 (1993) 133-139
18. Strissel P.L., Dann H.A., Pomykala H.M., Diaz M.O., Rowley J.D., and Olopade O.I. Scaffold-associated regions in the human type I interferon gene cluster on the short arm of chromosome 9. Genomics 47 (1998) 217-229
19. Iarovaia O.V., Shkumatov P., and Razin S.V. Breakpoint cluster regions of the AML-1 and ETO genes contain MAR elements and are preferentially associated with the nuclear matrix in proliferating HEL cells. J. Cell Sci. 117 (2004) 4583-4590
20. Singh G.B., Kramer J.A., and Krawetz S.A. Mathematical model to predict regions of chromatin attachment to the nuclear matrix. Nucleic Acids Res. 25 (1997) 1419-1425
21. Rodeghiero F., Castaman G., and Dini E. Epidemiological investigation of the prevalence of von Willebrand's disease. Blood 69 (1987) 454-459
22. Baronciani L., Cozzi G., Canciani M.T., Peyvandi F., Srivastava A., Federici A.B., and Mannucci P.M. Molecular defects in type 3 von Willebrand disease: updated results from 40 multiethnic patients. Blood Cells Mol. Dis. 30 (2003) 264-270
23. Deininger P.L., and Batzer M.A. Alu repeats and human disease. Mol. Genet. Metab. 67 (1999) 183-193
24. Bernardi F., Patracchini P., Gemmati D., Pinotti M., Schwienbacher C., Ballerini G., and Marchetti G. In-frame deletion of von Willebrand factor A domains in a dominant type of von Willebrand disease. Hum. Mol. Genet. 2 (1993) 545-548
25. Boulikas T. Chromatin domains and prediction of MAR sequences. Int. Rev. Cytol. 162A (1995) 279-388
26. Broeker P.L., Super H.G., Thirman M.J., Pomykala H., Yonebayashi Y., Tanabe S., Zeleznik-Le N., and Rowley J.D. Distribution of 11q23 breakpoints within the MLL breakpoint cluster region in de novo acute leukemia and in treatment-related acute myeloid leukemia: correlation with scaffold attachment regions and topoisomerase II consensus binding sites. Blood 87 (1996) 1912-1922
27. Strissel P.L., Strick R., Tomek R.J., Roe B.A., Rowley J.D., and Zeleznik-Le N.J. DNA structural properties of AF9 are similar to MLL and could act as recombination hot spots resulting in MLL/AF9 translocations and leukemogenesis. Hum. Mol. Genet. 9 (2000) 1671-1679
28. Hensel J.P., Gillert E., Fey G.H., and Marschalek R. Breakpoints of t(4;11) translocations in the human MLL and AF4 genes in ALL patients are preferentially clustered outside of high-affinity matrix attachment regions. J. Cell. Biochem. 82 (2001) 299-309
29. Glazko G.V., Koonin E.V., Rogozin I.B., and Shabalina S.A. A significant fraction of conserved noncoding DNA in human and mouse consists of predicted matrix attachment regions. Trends Genet. 19 (2003) 119-124