The molecular biology of fanconi anemia

Israel Medical Association Journal

Volumn 4, Issue 10, 2002, Pages 819-823

  Tamary, Hannah ^a   Bar Yam, Raanan ^a   Zemach, Michal ^a   Dgany, Orly ^a   Shalmon, Lea ^a   Yaniv, Isaac ^a  

^a SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

Author keywords

Aplastic anemia; DNA repair proteins; Fanconi anemia; Genes; Mutations

Indexed keywords

BONE; CELLS; CROSSLINKING; DNA; GENETIC ENGINEERING; PATIENT TREATMENT; PROTEINS;

GENOMIC SURVEILLANCE COMPLEX;

MOLECULAR BIOLOGY;

BRCA1 PROTEIN; FANCONI ANEMIA A PROTEIN; FANCONI ANEMIA B PROTEIN; FANCONI ANEMIA C PROTEIN; FANCONI ANEMIA D1 PROTEIN; FANCONI ANEMIA D2 L ISOPROTEIN; FANCONI ANEMIA D2 PROTEIN; FANCONI ANEMIA E PROTEIN; FANCONI ANEMIA F PROTEIN; FANCONI ANEMIA G PROTEIN; GAMMA INTERFERON; ISOPROTEIN; PROTEIN; UNCLASSIFIED DRUG;

APOPTOSIS; AUTOSOMAL RECESSIVE DISORDER; BONE MARROW DEPRESSION; CELL NUCLEUS; CLONE; CYTOPLASM; DNA CROSS LINKING; DNA REPAIR; ETHNIC GROUP; FAMILIAL DISEASE; FANCONI ANEMIA; GENE MUTATION; GENETIC DISORDER; GENETIC HETEROGENEITY; GENOMICS; GENOTYPE; HYPERSENSITIVITY; ISRAEL; KNOCKOUT MOUSE; MALIGNANT NEOPLASTIC DISEASE; MOLECULAR BIOLOGY; NONHUMAN; PATHOGENESIS; PHENOTYPE; PRECURSOR; PRENATAL DIAGNOSIS; PROTEIN BINDING; PROTEIN INTERACTION; REVIEW; SOMATIC CELL;

ADOLESCENT; ADULT; ANEMIA, APLASTIC; ANIMALS; APOPTOSIS; CELL FUSION; CELL LINE; CLONING, MOLECULAR; DISEASE MODELS, ANIMAL; DNA REPAIR; ETHNIC GROUPS; FANCONI ANEMIA; FORECASTING; GENES, BRCA1; GENETIC COMPLEMENTATION TEST; GENETIC RESEARCH; GENOTYPE; HUMANS; ISRAEL; JEWS; LEUKEMIA, LYMPHOCYTIC, ACUTE; MICE; MICE, KNOCKOUT; MUTATION; PHENOTYPE; PRENATAL DIAGNOSIS;

EID: 0036790261     PISSN: 15651088     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (39)

1. Liu JM. Fanconi's anemia. In: Young N, ed. Bone Marrow Failure Syndromes. Philadelphia: WB Saunders Co., 2000:47-88.
2. Joenje H, Patel KJ. The emerging genetic and molecular basis of Fanconi anemia [Review]. Nat Rev Genet 2001;2:446-57.
3. Lo Ten Foe JR, Rooimans MA, Bosnoyan-Collins L, et al. Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. Nat Genet 1996;14:320-3.
4. Strathdee CA, Gavish H, Shannon WR, Buchwald M. Cloning of cDNAs for Fanconi anaemia by functional complementation. Nature 1992;356:763-7.
5. Timmers C, Taniguchi T, Hejna J, et al. Positional cloning of a novel Fanconi anemia gene, FANCD2. Mol Cell 2001;7:241-8.
6. de Winter JP, Leveille F, van Berkel CG, et al. Isolation of a cDNA representing the Fanconi anemia complementation group E gene. Am J Hum Genet 2000;67:1306-8.
7. de Winter JP, Rooimans MA, van der Weel L, et al. The Fanconi anemia gene FANCF encodes a novel protein with homology to ROM. Nat Genet 2000; 24:15-16.
8. de Winter JP, Waisfisz Q, Rooimans MA, et al. The Fanconi anaemia group G gene (FANCG) is identical with XRCC9. Nat Genet 1998;20:281-283.
9. Joenje H, Oostra AB, Wijker M, et al. Evidence for at least eight Fanconi anemia genes. Am J Hum Genet 1997;61:940-4.
10. Joenje H, Levitus M, Waisfisz Q, et al. Complementation analysis in Fanconi anemia: assignment of the reference FA-H patient to group A. Am J Hum Genet 2000;67:759-62.
11. Gibson RA, Buchwald M, Roberts RG, Mathew CG. Characterisation of the exon structure of the Fanconi anemia group C gene by vectorette PCR. Hum Mol Genet 1993;2:35-8.
12. Whitney MA, Saito H, Jakobs PM, Gibson RA, Moses RE, Grompe M. A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews. Nat Genet 1993;4:202-5.
13. Verlander PC, Kaporis A, Liu Q, Zhand Q, Seligsohn U, Auerbach AD. Carrier frequency of the IVS4 + 4 A>T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population. Blood 1995;86:4034-8.
14. Garcia-Higuera I, Kuang Y, D'Andrea AD. The molecular and cellular biology of Fanconi anemia. Curr Opin Hematol 1999;6:83-8.
15. Futaki M, Yamashita T, Yagasaki H, et al. The IVS4+4 A to T mutation of the Fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients. Blood 2000;95:1493-8.
16. Yamashita T, Wu N, Kupfer G, et al. Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity. Blood 1996;87:4424-32.
17. The Falconi Anemia and Breast Cancer Consortium. Positional cloning of the Fanconi anemia group A gene. Nat Genet 1996;14:324-8.
18. Levran O, Erlich T, Magdalena N, et al. Sequence variations in the Fanconi anemia gene FAA. Proc Nat Acad Sci USA 1997;94:13051-6.
19. Wijker M, Morgan NV, Herterich S, et al. Heterogeneous spectrum of mutations in the Fanconi anemia group A gene. Eur J Hum Genet 1999;7:52-9.
20. Savino M, Ianzano L, Strippoli P, et al. Mutation of the Fanconi anemia group A gene (FAA) in Italian patients. Am J Hum Genet 1997;61:1246-53.
21. Nakamura A, Matsuura S, Tauchi H, et al. Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients. J Hum Genet 1999;44:48-51.
22. Tachibana A, Kato T, Ejima Y, et al. The FANCA gene in Japanese Fanconi anemia: reports of eight novel mutations and analysis of sequence variability. Hum Mutation 1999;13:237-44.
23. Centra M, Memeo E, d'Apolito M, et al. Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions. Genomics 1998; 51:463-7.
24. Levran O, Doggett NA, Auerbach AD. Identification of Alu-mediated deletions in the Fanconi anemia gene FAA. Hum Mutat 1998;12:145-52.
25. Morgan NV, Tipping AJ, Joenje H, Mathew CG. High frequency of large intragenic deletions in the Fanconi anemia group A gene. Am J Hum Genet 1999;65:1330-41.
26. Waisfesz Q, Morgan NV, Savio M, et al. Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism. Nat Genet 1999;2:379-83.
27. Faivre L, Guardiola P, Lewis C, et al. Association of complementation group and mutation type with clinical outcome in Fanconi anaemia. European Fanconi Anaemia Research Group. Blood 2000;96:4064-70.
28. Demuth I. Wlodarski M, Tipping AJ, et al. Spectrum of mutations in the Fanconi anaemia group C gene, FANCG/XRCC9. Eur J Hum Genet 2000;8:861-8.
29. Tamary H, Bar-Yam R, Shalmon L, et al. Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients. Br J Haematol 2000;111:338-43.
30. Whitney MA, Royle G, Low MJ, et al. Germ cell defects and hematopoietic hypersensitivity to gamma-interferon in mice with a targeted disruption of the Fanconi anemia C gene. Blood 1996;88:49-58.
31. Haneline LS, Broxmeyer HE, Cooper S, et al. Multiple inhibitory cytokines induce deregulated progenitor growth and apoptosis in hematopoietic cells from Fac-/- mice. Blood 1998;91:4092-8.
32. Fagerlie SR, Diaz J, Christianson TA, et al. Functional correction of FA-C cells with FANCC suppresses the expression of interferon gamma-inducible genes. Blood 2001;97:3017-24.
33. Garcia-Higuera I, Kuang Y, Naf D, Wasik J, D'Andrea AD. Fanconi anemia proteins FANCA< FANCC, and FANCG/XRCC9 interact in a functional nuclear complex. Mol Cell Biol 1999;19:4866-73.
34. Christianson TA, Bagby CG. FANCA protein binds FANCG proteins in an intracellular complex. Blood 2000;95:725-6.
35. Garcia-Higuera I, Taniguchi T, Ganesan S, et al. Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway. Mol Cell 2001;7:249-62.
36. Gluckman E, Auerbach AD, Horowitz et al. Bone marrow transplantation for Fanconi anemia. Blood 1995;86:2856-62.
37. Socie G, Devergie A, Girinski T, et al. Transplantation for Fanconi's anaemia: long-term follow-up of fifty patients transplanted from a sibling donor after low-dose cyclophosphamide and thoraco-abdominal irradiation for conditioning. Br J Haematol 1998;103:249-55.
38. Gaurdiola P, Pasquini R, Dokal I, et al. Outcome of 69 allogenic stem cell transplantations for Fanconi anemia using HLA-matched donors: a study on behalf of the European Group for Blood and Marrow Transplantation. Blood 2000;95:422-9.
39. Kapelushnik J, Or R, Slavin S, Nagler A. A fludarabine-based protocol for bone marrow transplantation in Fanconi's anemia. Bone Marrow Transplant 1997;20:1109-10.