Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2000 Nov;67(5):1306-8.
doi: 10.1016/S0002-9297(07)62959-0. Epub 2000 Sep 19.

Isolation of a cDNA representing the Fanconi anemia complementation group E gene

J P de Winter  1 , F Léveillé, C G van Berkel, M A Rooimans, L van Der Weel, J Steltenpool, I Demuth, N V Morgan, N Alon, L Bosnoyan-Collins, J Lightfoot, P A Leegwater, Q Waisfisz, K Komatsu, F Arwert, J C Pronk, C G Mathew, M Digweed, M Buchwald, H Joenje
Affiliations

Isolation of a cDNA representing the Fanconi anemia complementation group E gene

J P de Winter et al. Am J Hum Genet. 2000 Nov.

Abstract

Fanconi anemia (FA) is an autosomal recessive chromosomal instability syndrome with at least seven different complementation groups. Four FA genes (FANCA, FANCC, FANCF, and FANCG) have been identified, and two other FA genes (FANCD and FANCE) have been mapped. Here we report the identification, by complementation cloning, of the gene mutated in FA complementation group E (FANCE). FANCE has 10 exons and encodes a novel 536-amino acid protein with two potential nuclear localization signals.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Complementation of MMC hypersensitivity in FA-E lymphoblastoid cell line EUFA410, and FANCE protein sequence. a, MMC hypersensitivity of FA-E cell line EUFA410 is corrected after transfection of FANCE cDNA clone 10. HSC93, wild type control. b, Amino acid sequence of the FANCE protein. Nuclear localization signals as predicted by PSORT II (Nakai and Horton, 1999) are shown in bold and underlined.
See this image and copyright information in PMC

References

Electronic-Database Information

    1. GenBank, http://www.ncbi.nlm.nih.gov/Genbank/GenbankOverview.html (for human FANCE cDNA sequence [accession number AF265210] and genomic DNA clone 109F14 [accession number AL022721])
    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/ (for FANCA [MIM 227650], FANCC [MIM 227645], FANCD [MIM 227646], FANCE [MIM 600901], FANCF [MIM 603467], and FANCG [MIM 602956])

References

    1. Auerbach AD, Buchwald M, Joenje H (1998) Fanconi anemia. In: Vogelstein B, Kinzler KW (eds) The genetic basis of human cancer. McGraw-Hill, New York, pp 317–332
    1. de Winter JP, Waisfisz Q, Rooimans MA, van Berkel CG, Bosnoyan-Collins L, Alon N, Carreau M, Bender O, Demuth I, Schindler D, Pronk JC, Arwert F, Hoehn H, Digweed M, Buchwald M, Joenje H (1998) The Fanconi anemia group G gene FANCG is identical with XRCC9. Nat Genet 20:281–283 - PubMed
    1. de Winter JP, Rooimans MA, van der Weel L, van Berkel CG, Alon N, Bosnoyan-Collins L, de Groot J, Zhi Y, Waisfisz Q, Pronk JC, Arwert F, Mathew CG, Scheper RJ, Hoatlin ME, Buchwald M, Joenje H (2000) The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. Nat Genet 24:15–16 - PubMed
    1. Fanconi Anemia/Breast Cancer Consortium (1996) Positional cloning of Fanconi anemia group A gene. Nat Genet 14:324–328 - PubMed
    1. Hejna JA, Timmers CD, Reifsteck C, Bruun DA, Lucas LW, Jakobs PM, Toth-Fejel S, Unsworth N, Clemens SL, Garcia DK, Naylor SL, Thayer MJ, Olson SB, Grompe M, Moses RE (2000) Localization of the Fanconi anemia complementation group D gene to a 200-kb region on chromosome 3p25.3. Am J Hum Genet 66:1540–1551 - PMC - PubMed

Publication types

Substances

Associated data