X-linked inheritance of Fanconi anemia complementation group B

Nature Genetics

Volumn 36, Issue 11, 2004, Pages 1219-1224

  Meetei, Amom Ruhikanta ^a   Levitus, Marieke ^b   Xue, Yutong ^a   Medhurst, Annette L ^b   Zwaan, Michel ^b   Ling, Chen ^a   Rooimans, Martin A ^b   Bier, Patrick ^b   Hoatlin, Maureen ^c   Pals, Gerard ^b   De Winter, Johan P ^b   Wang, Weidong ^a   Joenje, Hans ^b  

^a NATIONAL INSTITUTE ON AGING   (United States)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA2 PROTEIN; DNA; ANDROGEN RECEPTOR; FANCD2 PROTEIN, HUMAN; FANCONI ANEMIA GROUP D2 PROTEIN; NUCLEAR PROTEIN;

ARTICLE; CANCER SUSCEPTIBILITY; CHROMOSOMAL INSTABILITY; CROSS LINKING; DNA DAMAGE; DNA RESPONSIVE ELEMENT; FANCONI ANEMIA; GENE IDENTIFICATION; GENE MUTATION; GENETIC COMPLEMENTATION; GENETIC COUNSELING; HUMAN; PRIORITY JOURNAL; PROTEIN DEFECT; PROTEIN LOCALIZATION; SIGNAL TRANSDUCTION; UBIQUITINATION; DNA METHYLATION; FEMALE; GENE EXPRESSION REGULATION; GENETIC LINKAGE; GENETICS; MALE; METABOLISM; MUTATION; PEDIGREE; X CHROMOSOME;

CHROMOSOMES, HUMAN, X; DNA METHYLATION; DOSAGE COMPENSATION, GENETIC; FANCONI ANEMIA; FANCONI ANEMIA COMPLEMENTATION GROUP D2 PROTEIN; FEMALE; GENETIC COMPLEMENTATION TEST; HUMANS; LINKAGE (GENETICS); MALE; MUTATION; NUCLEAR PROTEINS; PEDIGREE; RECEPTORS, ANDROGEN;

EID: 10944239213     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1458     Document Type: Article

References (25)

1. Joenje, H. & Patel, K.J. The emerging genetic and molecular basis of Fanconi anemia. Nat. Genet. 2, 446-457 (2001).
2. D'Andrea, A.D. & Grompe, M. The Fanconi anaemia/BRCA pathway. Nat. Rev. Cancer 3, 23-34 (2003).
3. Meetei, A.R. et al. A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome. Mol. Cell. Biol. 23, 3417-3426 (2003).
4. Levitus, M. et al. Heterogeneity in Fanconi anemia: evidence for two new genetic subtypes. Blood 103, 2498-2503 (2004).
5. Hewlett, N.G. et al. Biallelic inactivation of BRCA2 in Fanconi anemia. Science 297, 606-609 (2002).
6. Garcia-Higuera, I. et al. Interaction of the Fanconi anemia protein and BRCA1 in a common pathway. Mol. Cell 7, 249-262 (2001).
7. Meetei, A.R. et al. A novel ubiquitin ligase is deficient in Fanconi anemia. Nat. Genet. 35, 165-170 (2003).
8. Bruun, D. et al. siRNA depletion of BRCA1, but not BRCA2, causes increased genome instability in Fanconi anemia cells. DNA Repair 2, 1007-1013 (2003).
9. Jegalian, K. & Page, D.C. A proposed path by which genes common to mammalian X and Y chromosomes evolve to become X inactivated. Nature 394, 776-780 (1998).
10. Monk, M. & Harper, M.I. Sequential X chromosome inactivation coupled with cellular differentiation in early mouse embryos. Nature 281, 311-313 (1979).
11. Lyon, M.F. Gene action in the X-chromosome of the mouse (Mus musculus L). Nature 190, 372-373 (1961).
12. Russell, L.B. Genetics of mammalian sex chromosomes. Science 133, 1795-1803 (1961).
13. Brown, C.J. & Greally, J.M. A stain upon the silence: genes escaping X inactivation. Trends Genet. 19, 432-438 (2003).
14. Carrel, L., Cottle, A.A., Goglin, K.C. & Willard, H.F. A first-generation X-inactivation profile of the human X chromosome. Proc. Natl. Acad. Sci. USA 96, 14440-14444 (1999).
15. Lee, J.T. Molecular links between X-inactivation and autosomal imprinting: X-inactivation as a driving force for the evolution of imprinting? Curr. Biol. 13, 242-254 (2003).
16. Allen, R.C., Zoghbi, H.Y., Moseley, A.B., Rosenblatt, H.M. & Belmont, J.W. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am. J. Hum. Genet. 51, 1229-1239 (1992).
17. Cumming, R.C. et al. Fanconi anemia group C protein prevents apoptosis in hematopoietic cells through redox regulation of GSTP1. Nat. Med. 7, 814-820 (2001).
18. Heine-Suner, D. et al. Fragile-X syndrome and skewed X-chromosome inactivation within a family: a female member with complete inactivation of the functional X chromosome. Am. J. Med. Genet. 122A, 108-114 (2003).
19. Andreu, N. et al. Wiskott-Aldrich syndrome in a female with skewed X-chromosome inactivation. Blood Cells Mol. Dis. 31, 332-337 (2003).
20. Taniguchi, T. et al. Disruption of the Fanconi anemia-BRCA pathway in cisplatin-sensitive ovarian tumors. Nat. Med. 9, 568-574 (2003).
21. Tischkowitz, M. et al. Bi-allelic silencing of the Fanconi anaemia gene FANCF in acute myeloid leukaemia. Br. J. Haematol. 123, 469-471 (2003).
22. Strathdee, C.A., Duncan, A.M. & Buchwald, M. Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9. Nat. Genet. 1, 196-198 (1992).
23. de Winter, J.P. et al. The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG. Hum. Mol. Genet. 9, 2665-2674 (2000).
24. Tanaka, M. et al. Evidence of the monoclonal composition of human endometrial epithelial glands and mosaic pattern of clonal distribution in luminal epithelium. Am. J. Pathol. 163, 295-301 (2003).
25. Fanconi Anaemia/Breast Cancer Consortium. Positional cloning of the Fanconi anemia group A gene. Nat. Genet. 14, 324-328 (1996).