Subscribe to RSS
Please copy the URL and add it into your RSS Feed Reader.
https://www.thieme-connect.de/rss/thieme/en/10.1055-s-00035024.xml
Download PDF
Thromb Haemost 2002; 88(01): 3-4
DOI: 10.1055/s-0037-1613144
DOI: 10.1055/s-0037-1613144
Commentary
Is Alu-mediated Recombination an Important Cause of Hemophilia?
Authors
Further Information
Publication History
Publication Date:
09 December 2017 (online)
-
References
- 1 Houck CM, Rinehart FP, Schmid CW. A ubiquitous family of repeated DNA sequences in the human genome. J Mol Biol 1979; 132 (03) 289-306.
- 2 Batzer MA, Deininger PL. Alu repeats and human genomic diversity. Nat Rev Genet 2002; 03 (05) 370-9.
- 3 Rogers J. Retroposons defined. Nature 1983; 301 (5900): 460.
- 4 Ullu E, Weiner AM. Upstream sequences modulate the internal promoter of the human 7SL RNA gene. Nature 1985; 318 (6044): 371-4.
- 5 Deininger PL, Batzer MA, Hutchison CA, Edgell MH. Master genes in mammalian repetitive DNA amplification. Trends Genet 1992; 08 (09) 307-11.
- 6 Ullu E, Tschudi C. Alu sequences are processed 7SL RNA genes. Nature 1984; 312 (5990): 171-2.
- 7 Shen MR, Batzer MA, Deininger PL. Evolution of the master Alu gene(s). J Mol Evol 1991; 33: 311-20.
- 8 Kazazian HH. Jr. An estimated frequency of endogenous insertional mutations in humans. Nature Genet 1999; 22: 130.
- 9 Li X, Scaringe WA, Hill KA, Roberts S, Mengos A, Careri D, Pinto MT, Kasper CK, Sommer SS. Frequency of recent retrotransposition events in the human factor IX gene. Hum Mutat 2001; 17 (06) 511-9.
- 10 Deininger PL, Batzer MA. Alu repeats and human disease. Mol Genet Metab 1999; 67 (03) 183-93.
- 11 Marcus S, Hellgren D, Lambert B, Fallstrom SP, Wahlstrom J. Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch Nyhan syndrome. Hum Genet 1993; 90 (05) 477-82.
- 12 Brooks EM, Branda RF, Nicklas JA, O’Neill JP. Molecular description of three macro-deletions and an Alu-Alu recombination-mediated duplication in the HPRT gene in four patients with Lesch-Nyhan disease. Mutat Res 2001; 476 (1–2): 43-54.
- 13 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 Res 1995; 23 (02) 256-60.
- 14 Smith TM, Lee MK, Szabo CI, Jerome N, McEuen M, Taylor M, Hood L, King MC. Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1. Genome Res 1996; 06 (11) 1029-49.
- 15 Petrij-Bosch A, Peelen T, van Vliet M, van Eijk R, Olmer R, Drusedau M, Hogervorst FB, Hageman S, Arts PJ, Ligtenberg MJ, Meijers-Heijboer H, Klijn JG, Vasen HF, Cornelisse CJ, van’t Veer LJ, Bakker E, van Ommen GJ, Devilee P. BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet 1997; 17 (03) 341-5.
- 16 Swensen J, Hoffman M, Skolnick MH, Neuhausen SL. Identification of a 14 kb deletion involving the promoter region of BRCA1 in a breast cancer family. Hum Mol Genet 1997; 06 (09) 1513-7.
- 17 Puget N, Sinilnikova OM, Stoppa-Lyonnet D, Audoynaud C, Pages S, Lynch HT, Goldgar D, Lenoir GM, Mazoyer S. An Alu-mediated 6-kb duplication in the BRCA1 gene: a new founder mutation? [letter]. Am J Hum Genet 1999; 64 (01) 300-2.
- 18 Payne SR, Newman B, King MC. Complex germline rearrangement of BRCA1 associated with breast and ovarian cancer. Genes Chromosomes Cancer 2000; 29 (01) 58-62.
- 19 Rohlfs EM, Puget N, Graham ML, Weber BL, Garber JE, Skrzynia C, Halperin JL, Lenoir GM, Silverman LM, Mazoyer S. An Alu-mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10. Genes Chromosomes Cancer 2000; 28 (03) 300-7.
- 20 Nystrom-Lahti M, Kristo P, Nicolaides NC, Chang SY, Aaltonen LA, Moisio AL, Jarvinen HJ, Mecklin JP, Kinzler KW, Vogelstein B. Founding mutations and Alu-mediated recombination in hereditary colon cancer. Nat Med JID – 9502015 1995; 01 (11) 1203-6.
- 21 Mauillon JL, Michel P, Limacher JM, Latouche JB, Dechelotte P, Charbonnier F, Martin C, Moreau V, Metayer J, Paillot B, Frebourg T. Identification of novel germline hMLH1 mutations including a 22 kb Alu-mediated deletion in patients with familial colorectal cancer. Cancer Res 1996; 56 (24) 5728-33.
- 22 Charbonnier F, Raux G, Wang Q, Drouot N, Cordier F, Limacher JM, Saurin JC, Puisieux A, Olschwang S, Frebourg T. Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments. Cancer Res 2000; 60 (11) 2760-3.
- 23 Charbonnier FF, Olschwang SF, Wang QF, Boisson CF, Martin CF, Buisine MPF, Puisieux AF, Frebourg T. MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer. Cancer Res 2002; 62 (03) 848-53.
- 24 Tatusova TA, Madden TL. BLAST 2 Sequences, a new tool for comparing protein and nucleotide sequences. FEMS Microbiol Lett 1999; 174 (02) 247-50.
- 25 Batzer MA, Deininger PL, Hellmann-Blumberg U, Jurka J, Labuda D, Rubin CM, Schmid CW, Zietkiewicz E, Zuckerkandl E. Standardized nomenclature for Alu repeats. J Mol Evol 1996; 42 (01) 3-6.
- 26 Yoshitake S, Schach BG, Foster DC, Davie EW, Kurachi K. Nucleotide sequence of the gene for human factor IX (anti-hemophilic factor B). Biochemistry 1985; 24: 3736-50.