Functional analysis of patient-derived mutations in the Fanconi anemia gene, FANCG/XRCC9

Experimental Hematology

Volumn 29, Issue 7, 2001, Pages 842-849

  Nakanishi, Koji ^a   Moran, Anna ^a   Hays, Tobias ^a   Kuang, Yanan ^a   Fox, Edward ^a   Garneau, Danielle ^a   De Oca, Rocio Montes ^a   Grompe, Markus ^b   D'Andrea, Alan D ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MITOMYCIN C;

ALLELE; ALTERNATIVE RNA SPLICING; ANTIBIOTIC SENSITIVITY; CELL LINE; CLINICAL ARTICLE; CONFERENCE PAPER; CONTROLLED STUDY; FANCONI ANEMIA; GENE MUTATION; GENE TRANSFER; GENETIC ANALYSIS; GENOTYPE; HUMAN; HUMAN CELL; IMMUNOBLOTTING; MISSENSE MUTATION; MOLECULAR CLONING; NONSENSE MUTATION; PRIORITY JOURNAL; TECHNIQUE;

ADOLESCENT; ALLELES; CHILD; CHILD, PRESCHOOL; DNA, COMPLEMENTARY; DNA-BINDING PROTEINS; FANCONI ANEMIA; FANCONI ANEMIA COMPLEMENTATION GROUP G PROTEIN; FEMALE; HETEROZYGOTE; HUMANS; MALE; MUTATION;

EID: 0034948865     PISSN: 0301472X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0301-472X(01)00663-4     Document Type: Conference Paper

References (36)

1. Fanconi anemia
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3. Evidence for at least eight Fanconi Anemia genes
4. Complementation analysis in Fanconi anemia; assignment of the reference FA-H patient to group A
5. Cloning of cDNAs for Fanconi's anaemia by functional complementation
6. Expression cloning of a cDNA for the major Fanconi anemia gene, FAA.
7. The Fanconi anaemia group G gene is identical with human XRCC9
8. The Fanconi anemia complementation gene FANCF encodes a novel protein with homology to ROM
9. Positional cloning of a novel Fanconi Anemia gene, FANCD2
10. Isolation of a cDNA representing the Fanconi Anemia Complementation Group E gene
11. The human XRCC9 gene corrects chromosomal instability and mutagen sensitivities in CHO UV40 cells
12. Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway
13. The Fanconi anemia proteins, FAA and FAC, interact to form a nuclear complex
14. Fanconi anemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a functional nuclear complex
15. A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and FANCA
16. The Fanconi Anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG
17. A patient-derived mutant form of the Fanconi anemia protein, FANCA, is defective in nuclear accumulation
18. Spectrum of mutations in the Fanconi Anemia Group G gene, FANCG/XRCC9
19. Subtyping analysis of Fanconi anemia by immunoblotting and retroviral gene transfer
20. Fanconi anemia diagnosis and the diepoxybutane (DEB) test
21. Effects of retroviral vectors design on expression of human adenosine deaminase in murine bone marrow transplant recipients engrafted with genetically modified cells
22. A stable human-derived packaging cell line for production of high-titer retrovirus/vesicular stomatitis virus G pseudotypes
23. The Fanconi anemia polypeptide FACC is localized to the cytoplasm
24. Functional activity of the Fanconi anemia protein, FAA, requires FAC binding and nuclear localization
25. Complementation groups; one or more per gene
26. The Fanconi Anemia Proteins, FANCA and FANCG, stabilize each other and promote the nuclear accumulation of the FA complex
27. Carboxy terminal region of the Fanconi Anemia protein, FANCG/XRCC9, is required for functional activity
28. The carboxy terminal region of the Fanconi anemia protein, FANCG, is required for functional activity
29. Functional correction of Fanconi Anemia Group A hematopoietic cells by retroviral gene transfer
30. Engraftment of hematopoietic Progenitor cells transduced with the Fanconi Anemia Group C Gene (FANCC)
31. Phenotypic correction of Fanconi anemia group C knockout mice
32. Association of complementation group and mutation type with clinical outcome in Fanconi anemia
33. Phenotypic consequences of mutations in the Fanconi anemia FAC gene; an international Fanconi anemia registry study
34. The IVS4 + 4 A to T mutation of the Fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients
35. Spontaneous functional correction of homozygous Fanconi Anaemia alleles reveals novel mechanistic basis for reverse mosaicism