A 20.7 kb deletion within the factor VIII gene associated with LINE-1 element insertion

Thrombosis and Haemostasis

Volumn 79, Issue 5, 1998, Pages 938-942

  Van De Water, Neil ^a   Williams, Ruth ^b   Ockelford, Paul ^b   Browett, Peter ^b  

^a UNIVERSITY OF AUCKLAND   (New Zealand)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8; DNA;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA FLANKING REGION; DNA SEQUENCE; DNA TEMPLATE; EXON; FEMALE; GENE DELETION; HEMOPHILIA A; HUMAN; INTRON; MALE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETROPOSON; SEQUENCE HOMOLOGY;

EID: 0031976478     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1615098     Document Type: Article

References (29)

1. Wacey AI, Kemball-Cook G, Kazazian HH, Antonarakis SE, Schwaab R, Lindley P, Tuddenham EGD. The haemophilia A mutation search test and resource site, home page of the factor VIII mutation database: HAMSTeRS. Nucl Acid Res 1996; 24: 100-2.
2. Van de Water NS, Williams R, Nelson J, Browett PJ. Factor VIII inversions in severe hemophilia A patients. Pathology 1995; 27: 83-5.
3. Kazazian HH, Wong C, Youssoufian H, Scott AF, Phillips DG, Antonarakis SE. Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man. Nature 1988; 332: 164-6.
4. Woods-Samuels P, Wong C, Mathias SL, Scott AF, Kazazian HH, Antonarakis SE. Characterization of a nondeleterious L1 insertion in an intron of the human factor VIII gene and further evidence of open reading frames in functional elements. Genomics 1989; 4 (3): 290-6.
5. Hutchison CA, Hardies SC, Loeb DD, Shehee WR, Edgell MH. LINEs and related transposons: Long interspersed repeated sequences in the eucaryotic genome. In: Mobile DNA. Berg DE, Howe MM, eds. American Society for Microbiology, Washington DC 1989; pp 593-617.
6. Narita N, Nishio H, Kitoh Y, Ishikawa Y, Minami R, Nakamura H, Matsuo M. Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy. J Clin Invest 1993; 91: 1862-7.
7. Miki Y, Nishisho I, Horii A, Miyoshi Y, Utsunomia J, Kinzler KW, Vogelstein B, Nakamura Y. Disruption of the APC gene by a retrotransposable insertion of L1 sequence in a colon cancer. Cancer Res 1992; 52: 643-5.
8. Muratani K, Hada T, Yamamoto Y, Kaneko T, Shigeto Y, Ohue T, Furuyama J, Higashino K. Inactivation of the cholinesterase gene by Alu insertion: possible mechanism for human gene transposition. Proc Natl Acad Sci USA 1991; 88: 11315-9.
9. Wallace MR, Anderson LB, Saulino AM, Gregory PE, Glover TW, Collins FS. A de novo Alu insertion results in neurofibromatosis type 1. Nature 1991; 353: 864-6.
10. Barnes WM. PCR amplification of up to 35 kb DNA with high fidelity and high yield from λ bacteriophage templates. Proc Natl Acad Sci USA 1994; 91: 2216-20.
11. Cheng S, Fockler C, Barnes WM, Higuchi R. Effective amplification of long targets from cloned inserts and human genomic DNA. Proc Natl Acad Sci USA 1994; 91: 5695-9.
12. Kunkel LM, Smith KD, Boyer SH, Borgaonkar DS, Wachtel SS, Miller OJ, Breg WR, Jones HW, Rary JM. Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci USA 1977; 74: 1245-9.
13. Bardoni B. Sampietro M, Romano M, Crapanzano M, Mannucci PM, Camerino G. Characterization of a partial deletion of the factor VIII gene in a haemophiliac with inhibitor. Hum Genet 1988; 79: 86-8.
14. Altschul SF, Gish W, Miller W, Myers EW, Lipman DJ. Basic local alignment search tool. J Mol Biol 1990; 215: 403-10.
15. Gitscheir J, Wood WI, Goralka TM, Wion KL, Chen EY, Eaton DH, Vehar GA, Capon DJ, Lawn RM. Characterization of the human factor VIII gene. Nature 1984; 312: 326-30.
16. Weiner AM, Deininger PL, Efatratiadis A. Nonviral retrotransposons: genes, pseudogenes, and transposable elements generated by the reverse flow of genetic information. Ann Rev Biochem 1986; 55: 631-61.
17. Hattori M, Kuhara S, Takenaka O, Sakaki Y. L1 family of repetitive DNA sequences in the primates may be derived from a sequence encoding a reverse transcriptase-related protein. Nature 1986; 321: 625-8.
18. Smit AFA, Toth G, Riggs AD, Jurka J. Ancestral, mammalian-wide subfamilies of LINE-1 repetitive sequences. J Mol Biol 1995; 246: 401-17.
19. Singer MF, Krek V, McMillan JP, Swergold GD, Thayer RE. LINE-1 a human transposable element. Gene 1993; 135: 183-8.
20. Dombroski BA, Scott AF, Kazazian HH. Two additional potential retrotransposons isolated from a human L1 subfamily that contains an active retrotransposable element. Proc Natl Acad Sci USA 1993; 90: 6513-7.
21. Sassaman DM, Dombroski BA, Moran JV, Kimberland ML, Naas TP, DeBerardinis RJ, Gabriel A, Swergold GD and Kazazian HH. Many human L1 elements are capable of retrotransposition. Nature Genetics 1997; 16: 37-43.
22. Holmes SE, Dombroski BA, Krebs CM, Boehm CD, Kazazian HH. A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimaeric insertion. Nature Genetics 1994; 7: 143-8.
23. Jurka J. Sequence patterns indicate an enzymatic involvement in integration of mammalian retroposons. Proc Natl Acad Sci 1997; 94: 1872-7.
24. Teng S-C, Kim B, Gabriel A. Retrotransposon reverse-transcriptase-mediated repair of chromosomal breaks. Nature 1996; 383: 641-4.
25. Moore JK, Haber JE. Capture of retrotransposon DNA at the sites of chromosomal double-stranded breaks. Nature 1996; 383: 644-6.
26. Lakich D, Kazazian HH, Antonarakis SE, Gitschier J. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nature Genetics 1993; 5: 236-41.
27. Naylor J, Brinke A, Hassock S, Green PM, Giannelli F. Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions. Hum Mol Genet 1993; 2: 1773-8.
28. Rudiger NS, Gregersen N, Kielland-Brandt MC. One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi. Nucleic Acids Research 1995; 23: 256-60.
29. Mager DL, Henthorn PS, Smithies O. A Chinese Gγ+(Aγδβ)° thalassemia deletion: comparison to other deletions in the human β-globin gene cluster and sequence analysis of the breakpoints, Nucl Acid Res 1985; 18: 6559-75.