Identification of Alu-mediated deletions in the Fanconi anemia gene FAA

Human Mutation

Volumn 12, Issue 3, 1998, Pages 145-152

  Levran, Orna ^a   Doggett, Norman A ^b   Auerbach, Arleen D ^a  

^a ROCKEFELLER UNIVERSITY   (United States)

^b LOS ALAMOS NATIONAL LABORATORY   (United States)

Author keywords

Alu sequences; Bone marrow failure; Cancer genetics; Fanconi anemia; Mutation analysis

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; FANCONI ANEMIA; GENE DELETION; GENE INSERTION; GENE SEQUENCE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MOLECULAR CLONING; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

BASE SEQUENCE; CELL CYCLE PROTEINS; DNA; DNA-BINDING PROTEINS; FANCONI ANEMIA; FANCONI ANEMIA COMPLEMENTATION GROUP PROTEINS; FEMALE; HUMANS; INTRONS; MALE; MOLECULAR SEQUENCE DATA; NUCLEAR PROTEINS; PEDIGREE; PROTEINS; RECOMBINATION, GENETIC; REPETITIVE SEQUENCES, NUCLEIC ACID; SEQUENCE DELETION;

EID: 0031902327     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)12:3<145::AID-HUMU2>3.0.CO;2-G     Document Type: Article

References (28)

1. Ariga T, Carter PE, Davis AE (1990) Recombinations between Alu repeat sequences that result in partial deletions within the C1 inhibitor gene. Genomics 8.607-613
2. Auerbach AD (1993) Fanconi anemia diagnosis and the diepoxybutane (DEB) test. Exp Hematol 21:731-733.
3. Auerbach AD, Buchwald M, Joenje H (1997) Fanconi anemia. In Vogelstein B, Kinzler KW (eds): The Genetic Basis of Human Cancer. McGraw-Hill, New York, pp 317-332.
4. Buchwald M, Clarke C, Ng J, Duckworth-Rysiecki G, Weksberg R (1989) Complementation and gene transfer studies in Fanconi anemia. In Schroeder-Kurth TM, Auerbach AD, Obe G (eds). Fanconi Anemia, Clinical, Cytogenetic and Experimental Aspects. Springer-Verlag, Heidelberg, pp 225-235.
5. Butturini A, Gale RP, Verlander PC, Adler-Brecher B, Gillio AP, Auerbach AD (1994) Hematologic abnormalities in Fanconi anemia. An International Fanconi Anemia Registry study. Blood 84.1650-1655.
6. Giampietro PF, Adler-Brecher B, Verlander PC, Pavlakis SG, Davis JG, Auerbach AD (1993) The need for more accurate and timely diagnosis in Fanconi anemia: A report from the International Fanconi Anemia Registry. Pediatr 91.1116-1120.
7. Fanconi Anaemia/Breast Cancer Consortium (1996) Positional cloning of the Fanconi anaemia group A gene. Nature Genet 14.324-328.
8. Giampietro PF, Verlander PC, Davis JG, Auerbach AD (1997) Diagnosis of Fanconi anemia in patients without congenital malformations. An International Fanconi Anemia Registry study. Am J Med Genet 68:58-61.
9. Hobbs HH, Russell DW, Brown MS, Goldstein JL (1990) The LDL receptor locus in familial hypercholesterolemia: Mutational analysis of membrane protein. Annu Rev Genet 24:133-170.
10. Hwu HR, Roberts JW, Davidson EH, Britten RJ (1986) Insertion and/ or deletion of many repeated DNA sequences in human and higher ape evolution. Proc Natl Acad Sci USA 83 3875-3879.
11. Ianzano L, d'Apolitol M, Centra M, Savino M, Levran O, Auerbach AD, Clenton-Jansen A-M, et al. (1997) The genomic organization of the Fanconi anemia group A (FAA) gene. Genomics 41:309-314.
12. Joenje H, Oostra AB, Wijker M, di Summa FM, van Berkel CGM, Rooimans MA, Ebell W, et al. (1997) Evidence for at least eight Fanconi anemia genes. Am J Hum Genet 61:940-944.
13. Kinzler KW, Vogelstein B (1997) Gatekeepers and caretakers. Nature 386:761-763.
14. Lehrman MA, Russell DW, Goldstein JL, Brown MS (1987) Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia. J Biol Chem 262:3354-3361
15. Levran O, Erlich T, Magdelena N, Gregory JJ, Batish SD, Verlander PC, Auerbach AD (1997) Sequence variation in the Fanconi anemia gene FAA. Proc Natl Acad Sci USA 94.13051-13056.
16. Longmire JL, Brown NC, Meincke LJ, Campbell ML, Albright KL, Fawcett JJ, Campbell EW, et al. (1993) Construction and characterization of partial digest DNA libraries made from flow-sorted human chromosome 16. Genet Anal Tech Appl 10 69-76.
17. Lo Ten Foe JR, Rooimans MA, Bosnoyan-Collins L, Alon N, Wijker M, Parker L, Lightfoot J, et al. (1996) Expression cloning of a cDNA for the major Fanconi anemia gene, FAA. Nature Genet 14:320-323.
18. Maquat LE (1996) Defects in RNA splicing and the consequence of shortened translational reading frames. Am J Hum Genet 59:279-286.
19. Mauillon JL, Michel P, Limacher J-M, Latouche J-B, Dechelotte P, Charbonnier F, Martin C, et al. (1996) Identification of novel germline hMLH1 mutations including a 22 kb Alu-mediated deletion in patients with familial colorectal cancer. Cancer Res 56:5728-5733.
20. Nystrom-Lahti M, Kristo P, Nicolaides NC, Chang S-Y, Aaltonen LA, Moisio A-L, Järvinen HJ, et al. (1995) Founding mutations and Alu-mediated recombination in hereditary colon cancer. Nature Med 1:1203-1206.
21. Petrij-Bosch A, Peelen T, van Vliet M, van Eijk R, Olmer R, Drusedau M, Hogervorst FBL, et al. (1997) BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nature Genet 17:341-345.
22. Puget N, Torchard D, Serova-Sinilnikova OM, Lynch HT, Feunteun J, Lenoir GM, Mazoyer S (1997) A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17. Cancer Res 57:828-831.
23. Rüdiger NS, Gregersen N, Kielland-Brandt MC (1995) One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi. Nucleic Acids Res 23:256-260
24. Savino M, Ianzano L, Strippoli P, Ramenghi U, Arslanian A, Bagnara GP, Joenje H, et al. (1997) Mutations of the Fanconi anemia group A gene (FAA) in Italian patients. Am J Hum Genet 61.1246-1253.
25. Smith TM, Lee MK, Szabo CL, Jerome N, McEuen M, Taylor M, Hood L, et al. (1996) Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1. Genome Res 6.1029-1049.
26. Stoppa-Lyonnet D, Duponchel C, Meo T, Laurent J, Carter PE, Arala-Chaves M, Cohen JHM, et al. (1991) Recombination bias in the rearranged C1-inhibitor genes of angioedema patients. Am J Hum Genet 49:1055-1062.
27. Strathdee CA, Gavish H, Shannon WR, Buchwald M (1992) Cloning of cDNAs for Fanconi's anaemia by functional complementation. Nature 356:763-767.
28. Swensen J, Hoffman M, Skolnick MH, Neuhausen SL (1997) Identification of a 14 kb deletion involving the promoter region of BRCA1 in a breast cancer family. Hum Mol Genet 6:1513-1517.