Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA.

J. R. Lo Ten Foe, M. A. Rooimans, L. Bosnoyan-Collins, N. Alon, M. Wijker, L. Parker, J. Lightfoot, M. Carreau, D. F. Callen, A. Savoia, N. C. Cheng, C. G. van Berkel, M. H. Strunk, J. J. Gille, G. Pals, F. A. Kruyt, J. C. Pronk, F. Arwert, M. Buchwald, H. Joenje

Research output: Contribution to journalArticle

Abstract

Fanconi anaemia (FA) is an autosomal recessive disorder characterized by a diversity of clinical symptoms including skeletal abnormalities, progressive bone marrow failure and a marked predisposition to cancer. FA cells exhibit chromosomal instability and hyper-responsiveness to the clastogenic and cytotoxic effects of bifunctional alkylating (cross-linking) agents, such as diepoxybutane (DEB) and mitomycin C (MMC). Five complementation groups (A-E) have been distinguished on the basis of somatic cell hybridization experiments, with group FA-A accounting for over 65% of the cases analysed. A cDNA for the group C gene (FAC) was reported and localized to chromosome 9q22.3 (ref.8). Genetic map positions were recently reported for two more FA genes, FAA (16q24.3) and FAD (3p22-26). Here we report the isolation of a cDNA representing the FAA gene, following an expression cloning method similar to the one used to clone the FAC gene. The 5.5-kb cDNA has an open reading frame of 4,368 nucleotides. In contrast to the 63-kD cytosolic protein encoded by the FAC gene, the predicted FAA protein (M(r) 162, 752) contains two overlapping bipartite nuclear localization signals and a partial leucine zipper consensus, which are suggestive of a nuclear localization.

Original languageEnglish
Pages (from-to)320-323
Number of pages4
JournalNature Genetics
Volume14
Issue number3
Publication statusPublished - Nov 1996

Fingerprint

Fanconi Anemia
Organism Cloning
Complementary DNA
Genes
Leucine Zippers
Nuclear Localization Signals
Chromosomal Instability
Flavin-Adenine Dinucleotide
Mitomycin
Open Reading Frames
Proteins
Nucleotides
Clone Cells
Chromosomes
Bone Marrow
Gene Expression
Neoplasms

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Lo Ten Foe, J. R., Rooimans, M. A., Bosnoyan-Collins, L., Alon, N., Wijker, M., Parker, L., ... Joenje, H. (1996). Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. Nature Genetics, 14(3), 320-323.

Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. / Lo Ten Foe, J. R.; Rooimans, M. A.; Bosnoyan-Collins, L.; Alon, N.; Wijker, M.; Parker, L.; Lightfoot, J.; Carreau, M.; Callen, D. F.; Savoia, A.; Cheng, N. C.; van Berkel, C. G.; Strunk, M. H.; Gille, J. J.; Pals, G.; Kruyt, F. A.; Pronk, J. C.; Arwert, F.; Buchwald, M.; Joenje, H.

In: Nature Genetics, Vol. 14, No. 3, 11.1996, p. 320-323.

Research output: Contribution to journalArticle

Lo Ten Foe, JR, Rooimans, MA, Bosnoyan-Collins, L, Alon, 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 1996, 'Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA.', Nature Genetics, vol. 14, no. 3, pp. 320-323.
Lo Ten Foe JR, Rooimans MA, Bosnoyan-Collins L, Alon N, Wijker M, Parker L et al. Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. Nature Genetics. 1996 Nov;14(3):320-323.
Lo Ten Foe, J. R. ; Rooimans, M. A. ; Bosnoyan-Collins, L. ; Alon, N. ; Wijker, M. ; Parker, L. ; Lightfoot, J. ; Carreau, M. ; Callen, D. F. ; Savoia, A. ; Cheng, N. C. ; van Berkel, C. G. ; Strunk, M. H. ; Gille, J. J. ; Pals, G. ; Kruyt, F. A. ; Pronk, J. C. ; Arwert, F. ; Buchwald, M. ; Joenje, H. / Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. In: Nature Genetics. 1996 ; Vol. 14, No. 3. pp. 320-323.
@article{151c2f15e6934f9399f494de44910821,
title = "Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA.",
abstract = "Fanconi anaemia (FA) is an autosomal recessive disorder characterized by a diversity of clinical symptoms including skeletal abnormalities, progressive bone marrow failure and a marked predisposition to cancer. FA cells exhibit chromosomal instability and hyper-responsiveness to the clastogenic and cytotoxic effects of bifunctional alkylating (cross-linking) agents, such as diepoxybutane (DEB) and mitomycin C (MMC). Five complementation groups (A-E) have been distinguished on the basis of somatic cell hybridization experiments, with group FA-A accounting for over 65{\%} of the cases analysed. A cDNA for the group C gene (FAC) was reported and localized to chromosome 9q22.3 (ref.8). Genetic map positions were recently reported for two more FA genes, FAA (16q24.3) and FAD (3p22-26). Here we report the isolation of a cDNA representing the FAA gene, following an expression cloning method similar to the one used to clone the FAC gene. The 5.5-kb cDNA has an open reading frame of 4,368 nucleotides. In contrast to the 63-kD cytosolic protein encoded by the FAC gene, the predicted FAA protein (M(r) 162, 752) contains two overlapping bipartite nuclear localization signals and a partial leucine zipper consensus, which are suggestive of a nuclear localization.",
author = "{Lo Ten Foe}, {J. R.} and Rooimans, {M. A.} and L. Bosnoyan-Collins and N. Alon and M. Wijker and L. Parker and J. Lightfoot and M. Carreau and Callen, {D. F.} and A. Savoia and Cheng, {N. C.} and {van Berkel}, {C. G.} and Strunk, {M. H.} and Gille, {J. J.} and G. Pals and Kruyt, {F. A.} and Pronk, {J. C.} and F. Arwert and M. Buchwald and H. Joenje",
year = "1996",
month = "11",
language = "English",
volume = "14",
pages = "320--323",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "3",

}

TY - JOUR

T1 - Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA.

AU - Lo Ten Foe, J. R.

AU - Rooimans, M. A.

AU - Bosnoyan-Collins, L.

AU - Alon, N.

AU - Wijker, M.

AU - Parker, L.

AU - Lightfoot, J.

AU - Carreau, M.

AU - Callen, D. F.

AU - Savoia, A.

AU - Cheng, N. C.

AU - van Berkel, C. G.

AU - Strunk, M. H.

AU - Gille, J. J.

AU - Pals, G.

AU - Kruyt, F. A.

AU - Pronk, J. C.

AU - Arwert, F.

AU - Buchwald, M.

AU - Joenje, H.

PY - 1996/11

Y1 - 1996/11

N2 - Fanconi anaemia (FA) is an autosomal recessive disorder characterized by a diversity of clinical symptoms including skeletal abnormalities, progressive bone marrow failure and a marked predisposition to cancer. FA cells exhibit chromosomal instability and hyper-responsiveness to the clastogenic and cytotoxic effects of bifunctional alkylating (cross-linking) agents, such as diepoxybutane (DEB) and mitomycin C (MMC). Five complementation groups (A-E) have been distinguished on the basis of somatic cell hybridization experiments, with group FA-A accounting for over 65% of the cases analysed. A cDNA for the group C gene (FAC) was reported and localized to chromosome 9q22.3 (ref.8). Genetic map positions were recently reported for two more FA genes, FAA (16q24.3) and FAD (3p22-26). Here we report the isolation of a cDNA representing the FAA gene, following an expression cloning method similar to the one used to clone the FAC gene. The 5.5-kb cDNA has an open reading frame of 4,368 nucleotides. In contrast to the 63-kD cytosolic protein encoded by the FAC gene, the predicted FAA protein (M(r) 162, 752) contains two overlapping bipartite nuclear localization signals and a partial leucine zipper consensus, which are suggestive of a nuclear localization.

AB - Fanconi anaemia (FA) is an autosomal recessive disorder characterized by a diversity of clinical symptoms including skeletal abnormalities, progressive bone marrow failure and a marked predisposition to cancer. FA cells exhibit chromosomal instability and hyper-responsiveness to the clastogenic and cytotoxic effects of bifunctional alkylating (cross-linking) agents, such as diepoxybutane (DEB) and mitomycin C (MMC). Five complementation groups (A-E) have been distinguished on the basis of somatic cell hybridization experiments, with group FA-A accounting for over 65% of the cases analysed. A cDNA for the group C gene (FAC) was reported and localized to chromosome 9q22.3 (ref.8). Genetic map positions were recently reported for two more FA genes, FAA (16q24.3) and FAD (3p22-26). Here we report the isolation of a cDNA representing the FAA gene, following an expression cloning method similar to the one used to clone the FAC gene. The 5.5-kb cDNA has an open reading frame of 4,368 nucleotides. In contrast to the 63-kD cytosolic protein encoded by the FAC gene, the predicted FAA protein (M(r) 162, 752) contains two overlapping bipartite nuclear localization signals and a partial leucine zipper consensus, which are suggestive of a nuclear localization.

UR - http://www.scopus.com/inward/record.url?scp=1842337370&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=1842337370&partnerID=8YFLogxK

M3 - Article

C2 - 8896563

AN - SCOPUS:1842337370

VL - 14

SP - 320

EP - 323

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 3

ER -