Molecular biology of Fanconi anemia: Implications for diagnosis and therapy

Blood

Volumn 90, Issue 5, 1997, Pages 1725-1736

  D'Andrea, Alan D ^a   Grompe, Markus ^b  

^a DANA FARBER CANCER INSTITUTE   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ALKYLATING AGENT; ANDROGEN; CYTOKINE; GRANULOCYTE COLONY STIMULATING FACTOR; GRANULOCYTE MACROPHAGE COLONY STIMULATING FACTOR; MITOMYCIN C;

BLOOD TRANSFUSION; BONE MARROW DEPRESSION; BONE MARROW TRANSPLANTATION; CANCER RISK; CELL FUNCTION; CHORION VILLUS SAMPLING; CHROMOSOME BREAKAGE; CROSS LINKING; DISEASE COURSE; FANCONI ANEMIA; MOLECULAR BIOLOGY; MOLECULAR CLONING; MOSAICISM; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; REVIEW;

EID: 0030884238     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v90.5.1725     Document Type: Review

References (125)

1. Alter BP, Young NS: The bone marrow failure syndromes, in Nathan DG, Oski FA (eds): Hematology of Infancy and Childhood, vol 1 (ed 4). Philadelphia, PA Saunders, 1993, p 216
2. Alter BP: Fanconi's anaemia and its variability. Br J Haematol 85:9, 1993
3. Auerbach AD, Rogatko A, Schroeder-Kurth TM: International Fanconi anemia registry: Relation of clinical symptoms to diepoxybutane sensitivity. Blood 73:391, 1989
4. Liu J, Buchwald M, Walsh CE, Young NS: Fanconi anemia and novel strategies for therapy. Blood 84:3995, 1994
5. Giampietro PF, Adler-Brecher B, Verlander PC, Pavlakis SG, Davis JG, Auerbach AD: The need for more accurate and timely diagnosis in Fanconi anemia. A report from the international Fanconi Anemia Registry. Pediatrics 91:1116, 1993
6. Giampietro PF, Verlander PC, Davis JG, Auerbach AD: Diagnosis of Fanconi anemia in patients without congenital malformations: An International Fanconi Anemia Registry study. Am J Med Genet 68:58, 1997
7. Young NS, Alter BP: Clinical features of Fanconi's anemia, in Young NS, Alter BP (eds): Aplastic Anemia, Acquired and Inherited. Philadelphia, PA, Saunders, 1994
8. dos Santos CC, Gavish H, Buchwald M: Fanconi anemia revisited: Old ideas and new advances. Stem Cells 12:142, 1994
9. Auerbach AD: Fanconi anemia. Dermatol Clin 13:41, 1995
10. Alter BP, Knobloch ME, Weinberg RS: Erythropoiesis in Fanconi's anemia. Blood 78:602, 1991
11. Butturini A, Gale RP, Verlander PC, Adler-Brecher B, Gillio A, Auerbach AD: Hematologic abnormalities in Fanconi anemia. An International Fanconi Anemia Registry study. Blood 84:1650, 1994
12. Swift M, Zimmerman D, McDonough ER: Squamous cell carcinomas in Fanconi's anemia. JAMA 216:325, 1971
13. Somers GR, Tabrizi SN, Tiedemann K, Chow CW, Garland SM, Venter DJ: Squamous cell carcinoma of the tongue in a child with Fanconi anemia: A case report and review of the literature. Pediatr Pathol Lab Med 15:597, 1995
14. Nara N, Miyamoto T, et al: Two siblings with Fanconi's anemia developing squamous cell carcinomas. Rinsho Ketsueki 21:1944, 1980
15. Alter BP: Fanconi's anemia and malignancies. Am J Hematol 53:99, 1996
16. Hojo ET, van DP, Darroudi F, Natarajan AT: Spontaneous chromosomal aberrations in Fanconi anaemia, ataxia telangiectasia fibroblast and Bloom's syndrome lymphoblastoid cell lines as detected by conventional cytogenetic analysis and fluorescence in situ hybridisation (FISH) technique [published erratum appears in Mutat Res 334:268, 1995]. Mutat Res 334:59, 1995
17. Meyn MS: High spontaneous intrachromosomal recombination rates in ataxia-telangiectasia. Science 260:1327, 1993
18. Auerbach AD: Fanconi anemia diagnosis and the diepoxybutane (DEB) test. Exp Hematol 21:731, 1993
19. Dokal I, Chase A, Morgan NV, Coulthard S, Hall G, Mathew CG, Roberts I: Positive diepoxybutane test in only one of two brothers found to be compound heterozygotes for Fanconi's anaemia complementation group C mutations. Br J Haematol 93:813, 1996
20. Shipley J, Rodeck CH, Garrett C, Galbraith J, Giannelli F: Mitomycin C-induced chromsome damage in fetal blood cultures and prenatal diagnosis of Fanconi's anaemia. Prenat Diagn 4:217, 1984
21. Auerbach AD, Alter BP: Prenatal and postnatal diagnosis of aplastic anemia., in Alter BPe (ed): Methods in Hematology: Perinatal Hematology. Edinburgh, UK, Churchill Livingstone, 1989, p 225
22. Auerbach AD, Weiner MA, Warburton K, Yeboa LL, Broxmeyer HE: Acute myeloid leukemia as the first hematologic manifestation of Fanconi anemia. Am J Hematol 12:289, 1982
23. Guinan EC, Lopez KD, Huhn RD, Felser JM, Nathan DG: Evaluation of granulocyte-macrophage colony-stimulating factor for treatment of pancytopenia in children with Fanconi anemia. J Pediatr 124:144, 1994
24. Rackoff WR, Orazi A, Robinson CA, Cooper RJ, Alter BP, Freedman MH, Harris RE, Williams DA: Prolonged administration of granulocyte colony-stimulating factor (Filgrastim) to patients with Fanconi anemia: A pilot study. Blood 88:1588, 1996
25. Kohli-Kumar M, Morris C, Delaat C, Sambrano J, Masterson M, Mueller R, Shahidi NT, Yanik G, Desantes K, Friedman DJ, Auerbach AD, Harris RE: Bone marrow transplantation in Fanconi anemia using matched sibling donors. Blood 84:2050, 1994
26. Davies SM, Khan S, Wagner JE, Arthur DC, Auerbach AD, Ramsay NKC, Weisdorf DJ: Unrelated donor bone marrow transplantation for Fanconi anemia. Bone Marrow Transplant 17:43, 1996
27. Broxmeyer HE, Douglas GW, Hangoc G, Cooper S, Bard J, English D, Arny M, Thomas L, Boyse EA: Human umbilical cord blood as a potential source of transplantable hematopoietic stem/ progenitor cells. Proc Natl Acad Sci USA 86:3828, 1989
28. Broxmeyer HE, Kurtzberg J, Gluckman E, Auerbach AD, Douglas G, Coopers S, Fakenburg JH, Bard J, Boyse EA: Umbilical cord blood hematopoietic stem and repopulating cells in human clinical transplantation. Blood 17:313, 1991
29. Kurtzberg J: Umbilical cord blood: A novel alternative source of hematopoietic stem cells for bone marrow transplantation [editorial]. J Hematother 5:95, 1996
30. Kurtzberg J, Laughlin M, Graham ML, Smith C, Olson JF, Halperin E, Ciocci G, Carrier C, Stevens CE, Rubinstein P: Placental blood as a source of hematopoietic stem cells for transplantation into unrelated recipients. N Engl J Med 335:157, 1996
31. Wagner JE, Rosenthal J, Sweetman R, Shu XO, Davies SM, Ramsay NKC, McGlave PB, Sender L, Cairo MS: Successful transplantation of HLA-matched and HLA-mismatched umbilical cord blood from unrelated donors: Analysis of engraftment and acute graft-versus-host disease. Blood 88:795, 1996
32. Auerbach AD, Allen RG: Leukemia and preleukemia in Fanconi anemia patients. Cancer Genet Cytogenet 51:1, 1991
33. Maarek O, Jonveaux P, Le Coniat M, Derre J, Berger R: Fanconi anemia and bone marrow clonal chromosome abnormalities. Leukemia 10:1700, 1996
34. Stivrins TJ, Davis RB, Sanger W, Fritz J, Purtilo DT: Transformation of Fanconi's anemia to acute nonlymphocytic leukemia associated with emergence of monosomy 7. Blood 64:173, 1984
35. Venkatraj VS, Gaidano G, Auerbach AD: Clonality studies and N-ras and p53 mutation analysis of hematopoietic cells in Fanconi anemia. Leukemia 8:1354, 1994
36. Friedberg E: Cockayne syndrome - A primary defect in DNA repair, transcription, both, or neither. Bioessays 18:731, 1996
37. Friedberg E: Relationships between DNA repair and transcription. Annu Rev Biochem 65:15, 1996
38. Eshleman J, Markowitz S: Mismatch repair defects in human carcinogenesis. Hum Mol Genet 5:1489, 1996
39. Legerski R, Peterson C: Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C. Nature 359:70, 1992
40. van Vuuren AJ, Appeldoorn E, Odijk H, Yasui A, Jaspers NGJ, Bootsma D, Hoeijmakers JHJ: Evidence for a repair enzyme complex involving ERCC1 and complementing activities of ERCC4, ERCC11 and xeroderma pigmentosum group F. EMBO J 12:3693, 1993
41. Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, Tagle DA, Smith S, Uziel T, Sfez S, Ashkenazi M, Pecker I, Frydman M, Harnik R, Patanjali SR, Simmons A, Clines GA, Sartiel A, Gatti RA, Chessa L, Sanal O, Lavin MF, Jaspers NGJ, Taylor AMR, Arlett CF, Miki T, Weissman SM, Lovett M, Collins FS, Shiloh Y: A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 268:1749, 1995
42. Kastan MB, et al: A mammalian cell cycle checkpoint pathway utilizing p53 and GADD45 is defective in ataxia-telangiectasia. Cell 71:587, 1992
43. Hawley RS, Friend SH: Strange bedfellows in even stranger places: The role of ATM in meiotic cells, lymphocytes, tumors, and its functional links to p53. Genes Dev 10:2383, 1996
44. Keegan KS, Holtzman DA, Plug AW, Christenson ER, Brainerd EE, Flaggs G, Bently NJ, Taylor EM, Meyn MS, Moss SB, Carr AM, Ashley T, Hoekstra MF: The Atr and Atm protein kinases associate with different sites along meiotically pairing chromosomes. Genes Dev 10:2423, 1996
45. Ellis NA, Groden J, Ye T-Z, Straughen J, Lennon DJ, Ciocci S, Proytcheva M, German J: The Bloom's syndrome gene product is homologous to RecQ helicases. Cell 83:655, 1995
46. Ellis NA, Lennon DJ, Proytcheva M, Alhadeff B, Henderson EE, German J: Somatic intragenic recombination within the mutated locus BLM can correct the high sister-chromatid exchange phenotype of Bloom syndrome cells. Am J Hum Genet 57:1019, 1995
47. Schroeder T, Anschutz F, Knopp A: Spontane chromosome-naberrationen bei familiarer panmyelopathie. Humangenetik 1:194, 1964
48. German J, Puglatta C: Chromosomal breakage in diploid cell lines from Bloom's syndrome and Fanconi's anemia. Ann Genet 9:143, 1966
49. Kaiser TN, Lojewski A, Dougherty C, Juergens L, Sahar E, Latt SA: Flow cytometric characterization of the response of Fanconi's anemia cells to mitomycin C treatment. Cytometry 2:291, 1982
50. Korkina LG, Samochatova EV, Maschan AA, Suslova TB, Cheremisina ZP, Afanaslev IB: Release of active oxygen radicals by leukocytes of Fanconi Anemia patients. J Leukoc Biol 52:357, 1992
51. Kubbies M, Schindler D, Hoehn H, Schinzel A, Rabinovich PS: Endogenous blockage and delay of the chromosome cycle despite normal recruitment and growth phase explain poor proliferation and frequent edomitosis in Fanconi anemia cells. Am J Hum Genet 37:1022, 1985
52. Schlindler D, Hoehn H: Fanconi anemia mutation causes cellular susceptibility to ambient oxygen. Am J Hum Genet 43:429, 1988
53. Gille JJP, Wortelboer HM, Joenje H: Antioxidant status of Fanconi anemia fibroblasts. Hum Genet 77:28, 1987
54. Bigelow SB, Rary JM, Bender MA: G2 chromosomal radio-senitivity in Fanconi's anamia. Mutat Res 63:189, 1979
55. Rosselli F, Sanceau J, Wietzerbin J, Moustacchi E: Abnormal lymphokine production: A novel feature of the genetic disease Fanconi anemia. Hum Genet 89:42, 1992
56. Takeuchi T, Morimoto K: Increased formation of 8-hydroxy-deoxyguanosine in DNA damage, in lymphobasts from Fanconi's anemia patients due to possible catalase deficiency. Carcinogen 14:1115, 1993
57. Fujiwara Y, Tatsumi M, Sasaki MS: Cross-link repair in human cells and its possible defect in Fanconi's anaemia cells. Biochim Biophys Acta 113:635, 1977
58. Papadopoulo D, Guillouf C, Mohnrenweiser H, Moustacchi E: Hypomutability in Fanconi anemia cells is associated with increased deletion frequency at the HPRT locus. Proc Natl Acad Sci USA 87:8383, 1990
59. Willingale-Theune J, Schweiger M, Hirsch-Kauffmann M, Meek AE, Paulin-Levasseur M, Traub P: Ultrastructure of Fanconi anemia fibroblasts. J Cell Sci 93:651, 1989
60. Kupfer GM, D'Andrea AD: The effect of the Fanconi anemia polypeptide, FAC, upon p53 induction and G2 checkpoint regulation. Blood 88:1019, 1996
61. Rosselli F, Ridet A, Soussi T, Duchaud E, Alapetite C, Moustacchi E: p53-dependent pathway of radio-induced apoptosis is altered in Fanconi anemia. Oncogene 10:9, 1995
62. Daneshbod-Skibba G, Martin J, Shahidi NT: Myeloid and erythroid colony growth in non-anaemic patients with Fanconi's anaemia. Br J Haematol 44:33, 1980
63. Whitney MA, Royle G, Low MJ, Kelly MA, Axthelm MK, Reifsteck C, Olson S, Braun RE, Heinrich MC, Rathbun RK, Bagby GC, Grompe M: Germ cell defects and hematopoietic hypersensitivity to gamma-interferon in mice with a targeted disruption of the Fanconi anemia C gene. Blood 88:49, 1996
64. Wang J, Youssoufian H, Lo Ten Foe JR, Devetten M, Cumming RC, Buchwald M, Liu JM: Overexpression of the Fanconi anemia group C gene (FAC) protects hematopoietic progenitors from FAS-mediated apoptosis. Blood 88:548a. 1996 (abstr, suppl 1)
65. Cumming RC, Liu JM, Youssoufian H, Buchwald M: Suppression of apoptosis in hematopoietic factor-dependent progenitor cell lines by expression of the FAC gene. Blood 88:4558, 1996
66. Segal G, Magenis R, Brown M, Keeble W, Smith T, Heinrich M, Bagby G: Repression of Fanconi anemia gene (FACC) expression inhibits growth of hematopoietic progenitor cells. J Clin Invest 94:846, 1994
67. Joenje H, Frants RR, Arwert F, de Bruin GJ, Kostense PJ, van de Kamp JJ, de Koning J, Eriksson AW: Erythrocyte superoxide dismutase deficiency in Fanconi's anaemia established by two independent methods of assay. Scand J Clin Lab Invest 39:759, 1979
68. Mavelli I, Ciriolo MR, Rotilio G, De Sole P, Castorino M, Stabile A: Superoxide dismutase, glutathione peroxidase and catalase in oxidative hemolysis. A study of Fanconi's anemia erythrocytes. Biochem Biophys Res Commun 106:1982, 1982
69. Buchwald M: Complementation groups: One or more per gene? Nat Genet 11:228, 1995
70. Duckworth-Rysiecki G, Cornish K, Clarke CA, Buchwald M: Identification of two complementation groups in Fanconi anemia. Somat Cell Mol Genet 11:35, 1985
71. Joenje H: Fanconi anemia complementation groups in Germany and The Netherlands. Hum Genet 97:280, 1996
72. Joenje H, LoTen F, Oostra A, Berkel CV, Rooimans M, Schroeder S, Kurth T, Wegner R, Gille J, Buchwald M, Arwert F: Classification of Fanconi anemia patients by complementation analysis: Evidence for a fifth genetic subtype. Blood 86:2156, 1995
73. Strathdee CA, Duncan AMV, Buchwald M: Evidence for at least four Fanconi Anemia genes including FACC on chromosome 9. Nat Genet 1:196, 1992
74. Strathdee CA, Duncan AM, Buchwald M: Nat Genet 1:196, 1992
75. Pronk JC, Gibson RA, Savoia A, Wijker M, Morgan NS, Melchionda S, Ford D, Temtamy S, Ortega JJ, Jansen S, Harenga C, Cohn RJ, de Ravel TJ, Roberts I, Westerveld A, Easton DJ, Joenje H, Mathew CG, Arwert F: Localization of the Fanconi anemia complementation group A gene to chromosome 16q24.3. Nat Genet 11:338, 1995
76. Whitney M, Thayer M, Reifsteck C, Olson S, Smith L, Jakobs PM, Leach R, Naylor S, Joenje H, Grompe M: Microcell mediated chromosome transfer maps the Fanconi anemia group D gene to chromosome 3p. Nat Genet 11:341, 1995
77. Strathdee CA, Gavish H, Shannon WR, Buchwald M: Cloning of cDNAs for Fanconi's anaemia by functional complementation. Nature 356:763, 1992
78. Gibson RA, Buchwald M, Roberts RG, Mathew CG: Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR. Hum Mol Genet 2:35, 1993
79. Wevrick R, Clarke CA, Buchwald M: Cloning and analysis of the murine Fanconi anemia group C cDNA. Hum Mol Genet 2:655, 1993
80. Whitney MA, Saito H, Jakobs PM, Gibson RA, Moses RE, Grompe M: A common mutation in the FACC gene causes Fanconi anemia in Ashkenazi Jews. Nat Genet 4:202, 1993
81. Yamashita T, Wu N, Kupfer G, Corless C, Joenje H, Grompe M, D'Andrea AD: The clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated FAC polypeptide with partial activity. Blood 87:4424, 1996
82. Verlander PC, Lin JD, Udono MU, Zhang Q, Gibson RA, Mathew CG, Auerbach AD: Mutation analysis of the Fanconi anemia gene FACC. Am J Hum Genet 54:595, 1994
83. Gibson RA, Hajkanpour A, Murer-Orlando M, Buchwald M, Mathew CG: A nonsense mutation and exon skipping in the Fanconi Anemia group C gene. Hum Mol Genet 2:797, 1993
84. Gibson RA, Morgan NV, Goldstein LH, Pearson IC, Kesterton IP, Foot MJ, Jansen S, Havenga C, Pearson T, de Ravel TJ, Cohn RJ, Marques IM, Dokal I, Roberts I, Marsh J, Ball S, Milner RD, Llerena JC, Samochatova E, Mohan SP, Vasudevan P, Birjandi F, Hajianpour A, Murer-Orlando M, Mathew CG: Novel mutations and polymorphisms in the Fanconi anaemia group C gene. Hum Mutat 8:140, 1996
85. Gavish H, dos Santos CC, Buchwald M: A Leu554-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein. Hum Mol Genet 2:123, 1993
86. Lo Ten Foe J, Rooimans M, Joenje H, Arwert F: A novel frameshift mutation (1806insA) in exon 14 of the Fanconi anemia C gene, FAC. Hum Mutat 7:264, 1996
87. Krasnoshtein F, Buchwald M: Developmental expression of the Fac gene correlates with congenital defects in Fanconi anemia patients. Hum Mol Genet 5:85, 1996
88. Savoia A, Centra M, Ianzano L, de-Cillis GP, Zelante L, Buchwald M: Characterization of the 5′ region of the Fanconi anaemia group C (FACC) gene. Hum Mol Genet 4:1321, 1995
89. Kupfer G, Yamashita T, Asano, Suliman A, D'Andrea AD: The Fanconi anemia protein, FAC, binds to the cyclin-dependent kinase, cdc2. Blood 90:1047, 1997
90. Youssoufian H: Localization of Fanconi anemia C protein to the cytoplasm of mammalian cells. Proc Natl Acad Sci USA 91:7975, 1994
91. Yamashita T, Barber DL, Zhu Y, Wu N, D'Andrea AD: The Fanconi anemia polypeptide FACC is localized to the cytoplasm. Proc Natl Acad Sci USA 91:6712, 1994
92. Youssoufian H, Auerbach AD, Verlander PC, Steimle V, Mach B: Identification of cytosolic proteins that bind to the Fanconi Anemia complementation group C polypeptide in vitro. J Biol Chem 270:9876, 1995
93. Hoshino T, Youssoufian H, Wang J, Devetten MP, Iwata N, Kajigaya S, Liu JM: The molecular chaperone GRP94 binds to a central domain within the group C Fanconi anemia protein. Blood 88:1734a, 1996 (abstr, suppl 1)
94. Youssoufian H, Li Y, Martin ME, Buchwald M: Induction of Fanconi anemia cellular phenotype in human 293 cells by overexpression of a mutant FAC allele. J Clin Invest 97:957, 1996
95. Kruyt FAE, Dijkmans LM, van den Berg TK, Joenje H: Fanconi Anemia genes act to suppress a cross-linker-inducible p53-independent apoptosis pathway in lymphoblastoid cell lines. Blood 87:938, 1996
96. Germann UA, Pastan I, Gottesman MM: P-glycoproteins: Mediators of multidrug resistance. Semin Cell Biol 4:63, 1993
97. 1 Cancer Res 53:4907, 1993
98. Hu L-T, Stamberg J, Pan S-S: The NAD(P)H:quinone oxidoreductase locus is human colon carcinoma HCT 116 cells resistant to mitomycin C. Cancer Res 56:5253, 1996
99. Allen C, Meyn MS: Isolation and charactrization of 3 cDNAs that complement the mutagen-sensitivity of Fanconi anemia group A fibroblasts. Am J Hum Genet 55:58, 1994 (abstr).
100. Vogelstein B, Kinzler KW: p53 function and dysfunction. Cell 70:523, 1992
101. Chen M, Tomkins DJ, Auerbach W, McKerlie C, Youssoufian H, Liu L, Gan O, Carreau M, Auerbach A, Groves T, Guidos CJ, Freeman MH, Cross J, Percy DH, Dick JE, Joyner AL, Buchwald M: Inactivation of Fac in mice produces inducible chromosomal instability and reduced fertility reminiscent of Fanconi anaemia. Nat Genet 12:448, 1996
102. Heneveld M, Faulkner G, Royle G, Heinrich M, Keeble W, Kahn R, Grompe M, Rathbun K, Bagby GC: The pathogenesis of bone marrow failure in Fanconi anemia: The role of IFNγ-induced FAS expression. Blood 88:339a, 1996 (abstr, suppl 1)
103. Baker SM, Bronner CE, Zhang L, Plug AW, Robatzek M, Warren G, Elliott EA, Yu J, Ashley T, Arnheim N, Flavell RA, Liskay RM: Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis. Cell 82:309, 1995
104. Baker SM, Plug AW, Prolla TA, Bronner CE, Harris AC, Yao X, Christie DM, Monell C, Arnheim N, Bradley A, Ashley T, Liskay RM: Involvement of mouse MIh1 in DNA mismatch repair and meiotic crossing over. Nat Genet 13:336, 1996
105. Barlow C, Hirotsune S, Paylor R, Liyanage M, Eckhaus M, Collins F, Shiloh Y, Crawley JN, Ried T, Tagle D, Wynshaw-Boris A: Atm-deficient mice: A paradigm of ataxia telangiectasia. Cell 86:159, 1996
106. Matthews W, Jordan CT, Wiegand GW, Pardoll D, Lemischka IR: A receptor tyrosine kinase specific to hematopoietic stem and progenitor cell-enriched populations. Cell 65:1143, 1991
107. Zsebo KM, Williams DA, Geissler EN, Broudy VC, Martin FH, Atkins HL, Hsu RY, Birkett NC, Okino KH, Murdock DC, Jacobsen FW, Langely KE, Smith KA, Takeishi T, Cattanach BM, Galli SJ, Suggs SV: Stem cell factor is encoded at the S1 locus of the mouse and is the ligand for the c-kit tyrosine kinase receptor. Cell 63:213, 1990
108. Apostolou S, Whitmore SA, Crawford J, Alon N, Wijker M, Parker L, Lightfoot J, Carreau M, Callen DF, Savoia A, Cheng NC, van Berkel CGM, Strunk MHP, Gille JJP, Pals G, Kruyt FAE, Pronk JC, Arwert F, Buchwald M, Joenje H: Positional cloning of the Fanconi Anaemia Group A gene. Nat Genet 14:324, 1996
109. Lo Ten Foe JR, Rooimans MA, Bosnoyan-Collins L, Alan N, Wijker M, Parker L, Lightfoot J, Carreau M, Callen DF, Savoia A, Cheng NC, van Berkel CG, Strunk MH, Gille JJ, Pals G, Kruyt FA, Pronk JC, Arwert F, Buchwald M, Joenje H: Expression cloning of a cDNA for the major Fanconi anemia gene, FAA. Nature Genet 14:320, 1996
110. 109a. Ianzano L, D'Apolito M, Centra M, Savino M, Levran O, Auerbach AD, Cleton-Jansen A-M, Doggett NA, Pronk JC, Tipping AJ, Gibso RA, Mathew CG, Whitmore SA, Apostolou S, Callen DF, Zelante L, Savoia A: The genomic organization of the Fanconi Anemia Group A (FAA) gene. Genomics 41:309, 1997
111. Dorion-Bonnet F, Mautalen S, Hostein I, Longy M: Allelic imbalance study of 16q in human primary breast carcinomas using microsatellite markers. Genes Chromosom Cancer 14:171, 1995
112. Tsuda H, Callen DF, Fukutomi T, Nakamura Y, Hiroshashi S: Allele loss on chromosome 16q24.2-qter occurs frequently in breast cancers irrespectively of differences in phenotype and extent of spread. Cancer Res 54:513, 1994
113. Rosendorff J, Bernstein R, Macdougall L, Jenkins T: Fanconi anemia; another disease of unusually high prevalence in the Afrikaans population of South Africa. Am J Med Genet 2:793, 1987
114. Savoia A, Zatterale A, Del Principe D, Joenje H: Fanconi anaemia in Italy: High prevalence of complementation group A in two geographic clusters. Hum Genet 97:599, 1996
115. Hogervorst FB, Cornelis RS, Bout M, van-Vliet M, Oosterwijk JC, Olmer R, Bakker B, Klijn JG, Vasen HF, Meijers-Heijboer H, Menko FH, Cornelisse CJ, den Dunnen PD, van Ommen G-JB: Rapid detection of BRCA1 mutations by the protein truncation test. Nat Genet 10:208, 1995
116. Lo Ten Foe J, Barel M, Tuss P, Digweed M, Arwert F, Joenje H: Sequence variations in the Fanconi anaemia gene, FAC: Pathogenicity of 1806insA and R548X and recognition of D195V as a polymorphic variant. Hum Genet 98:522, 1996
117. Walsh CE, Grompe M, Vanin E, Buchwald M, Young NS, Nienhuis AW, Liu JM: A functionally active retrovirus vector for gene therapy in Fanconi anemia group C. Blood 84:453, 1994
118. Swift M: Fanconi's anaemia in the genetics of neoplasia. Nature 230:370, 1971
119. Swift MR, Hirschorn K: Fanconi's anemia: Inherited susceptibility to chromosome breakage in various tissues. Ann Intern Med 65:486, 1966
120. Welshimer K, Swift M: Congenital malformations and developmental disabilities in ataxia-telangiectasia. Fanconi anemia, and xeroderma pigmentosum families. Am J Hum Genet 34:781, 1982
121. Potter NU, Sarmousakis C, Li FP: Cancer in relatives of patients with aplastic anemia. Cancer Genet Cytogenet 9:61, 1983
122. Kwong YL, Ha SY, Liang RHS, Wan TSK, Chan LC: Interstitial Deletion of 9q in a case of acute myeloid leukemia (FAB M6). Cancer Genet Cytogenet 66:79, 1993
123. Mecucci C, Vermaelen K, Kulling G, Michaux JL, Noens L, Hove WV, Tricot G, Louwagie A, Berghe HVD: Interstitial 9q-deletions in hematologic malignancies. Cancer Genet Cytogenet 12:309, 1984
124. Kvittingen EA, Rootwelt H, Brandtzaeg P, Bergan A, Berger R: Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect. J Clin Invest 91:1816, 1993
125. Hirschhorn R, Yang DR, Puck JM, Huie ML, Jiang CK, Kurlandsky LE: Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency. Nat Genet 13:290, 1996