CoChat
Sign Up
Cited by 173

The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.

Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism

Waisfisz, Quinten, Morgan, Neil V., Savino, Maria, de Winter, Johan P., van Berkel, Carola G.M., Hoatlin, Maureen E., Ianzano, Leonarda, Gibson, Rachel A., Arwert, Fre, Savoia, Anna, Mathew, Christopher G., Pronk, Jan C., Joenje, Hans·1999·Nature Genetics
DOI 10.1038/11956
Open this paper in CoChat — free account

Abstract

Somatic mosaicism due to reversion of a pathogenic allele to wild type has been described in several autosomal recessive disorders. The best known mechanism involves intragenic mitotic recombination or gene conversion in compound heterozygous patients, whereby one allele serves to restore the wild-type sequence in the other. Here we document for the first time functional correction of a pathogenic microdeletion, microinsertion and missense mutation in homozygous Fanconi anaemia (FA) patients resulting from compensatory secondary sequence alterations in cis. The frameshift mutation 1615delG in FANCA was compensated by two additional single base-pair deletions (1637delA and 1641delT); another FANCA frameshift mutation, 3559insG, was compensated by 3580insCGCTG; and a missense mutation in FANCC(1749T-->G, Leu496Arg) was altered by 1748C-->T, creating a cysteine codon. Although in all three cases the predicted proteins were different from wild type, their cDNAs complemented the characteristic hypersensitivity of FA cells to crosslinking agents, thus establishing a functional correction to wild type.

Overview

Integrity signals

Registry

Crossref · 10.1038/11956

Cites

1 of 1 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Verification

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Citations

Cites

Show all 1 references

Research works printed but not linked: 23

  1. Ellis, N.A. et al. 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, 1019–1027 (1995).
  2. Hirschhorn, et al. Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency. Nature Genet. 13, 290–295 (1996). · DOI
  3. Stephan, V. et al. Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells. N. Engl. J. Med. 335, 1563–1567 (1996). · DOI
  4. Jonkman, M.F. et al. Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion. Cell 88, 543–551 (1997). · DOI
  5. Lo Ten Foe, J.R. et al. Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance. Eur. J. Hum. Genet. 5, 137–148 (1997). · DOI · Paper page
  6. Auerbach, A.D., Buchwald, M. & Joenje, H. Fanconi anemia. in The Genetic Basis of Human Cancer (eds Vogelstein, B. & Kinzler, K.W.) 317–332 (McGraw-Hill, New York, 1998).
  7. Wijker M. et al. Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene. Eur. J. Hum. Genet. 7, 52–59 (1999). · DOI
  8. Savino, M. et al. Mutations of the Fanconi anemia group A gene (FAA) in Italian patients. Am. J. Hum. Genet. 61, 1246–1253 (1997). · DOI
  9. Gibson, R.A. et al. Novel mutations and polymorphisms in the Fanconi anemia group C gene. Hum. Mutat. 8, 140–148 (1996). · DOI
  10. O'Hara, S.M. & Marnett, L.J. DNA sequence analysis of spontaneous and β-methoxy-acrolein-induced mutations in Salmonella typhimurium hisD3052. Mutat. Res. 247, 45–56 (1991). · DOI
  11. von Borstel, R.C. et al. Topical reversion at the HIS1 locus of Saccharomyces cerevisiae. A tale of three mutants. Genetics 148, 1647–1654 (1998). · DOI
  12. Ariga, T. et al. A case of Wiskott-Aldrich syndrome with dual mutations in exon 10 of the WASP gene: an additional de novo one-base insertion, which restores frame shift due to an inherent one-base deletion, detected in the major population of the patient's peripheral blood lymphocytes. Blood 92, 699–701 (1998). · DOI
  13. DeMarini, D.M., Shelton, M.L., Abu-Shakra, A., Szakmary, A. & Levine, J.G. Spectra of spontaneous frameshift mutations at the hisD3052 allele of Salmonella typhimurium in four DNA repair backgrounds. Genetics 149, 17–36 (1998). · DOI
  14. Kwee, M.L. et al. Unusual response to bifunctional alkylating agents in a case of Fanconi anaemia. Hum. Genet. 64, 384–387 (1983). · DOI
  15. Joenje, H. et al. Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype. Blood 86, 2156–2160 (1995). · DOI
  16. Savoia, A. et al. Fanconi anaemia in Italy: high prevalence of complementation group A in two geographic clusters. Hum. Genet. 97, 599–603 (1996). · DOI
  17. Strathdee, C.A., Duncan, A.M. & Buchwald, M. Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9. Nature Genet. 1, 196–198 (1992). · DOI
  18. Kruyt, F.A.E., Dijkmans, L.M., Van den Berg, T. & Joenje, H. Fanconi anemia genes act to suppress a cross-linker-inducible p53-independent apoptosis pathway in lymphoblastoid cell lines. Blood 87, 938–949 (1996). · DOI
  19. Ishida, R. & Buchwald, M. Susceptibility of Fanconi's anemia lymphoblasts to DNA-crosslinking and alkylating agents. Cancer Res. 42, 4000–4006 (1982).
  20. Kruyt, F.A.E. et al. Cytoplasmic localization of a functionally active Fanconi anemia group A-green fluorescent protein chimera in human 293 cells. Blood 90, 3288–3295 (1997). · DOI
  21. Guan, K.L. & Dixon, J.E. Eukaryotic proteins expressed in Escherichia coli: an improved thrombin cleavage and purification procedure of fusion proteins with glutathione S-transferase. Anal. Biochem. 192, 262–267 (1991). · DOI
  22. Zaman, G.J. et al. The human multidrug resistance-associated protein MRP is a plasma membrane drug-efflux pump. Proc. Natl Acad. Sci. USA 91, 8822–8826 (1994). · DOI
  23. Hoatlin, M.E., Kew, O.M. & Renz, M.E. Regions of poliovirus protein VP1 produced in Escherichia coli induce neutralizing antibodies. J. Virol. 61, 144–1447 (1987). · DOI

Cited by

Metadata

Authors
Waisfisz, Q., Morgan, N. V., Savino, M., de Winter, J. P., van Berkel, C. G. M., Hoatlin, M. E., Ianzano, L., Gibson, R. A., Arwert, F., Savoia, A., Mathew, C. G., Pronk, J. C., & Joenje, H.
Venue
Nature Genetics
Publisher
Springer Science and Business Media LLC
Published
1999-08
Volume
22
Issue
4
Pages
379-383
ISSN
  • 1061-4036
  • 1546-1718
DOI
10.1038/11956
Cited by
173
References
1
Language
en
Licence
www.springer.com/tdm (tdm)

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review