Microcell mediated chromosome transfer maps the Fanconi anaemia group D gene to chromosome 3p

Nature Genetics
M A WhitneyM Grompe

Abstract

Fanconi anaemia (FA) is an autosomal recessive disorder characterized by progressive pancytopenia, short stature, radial ray defects, skin hyperpigmentation and a predisposition to cancer. Cells from FA patients are hypersensitive to cell killing and chromosome breakage induced by DNA cross-linking agents such as mitomycin C (MMC) and diepoxybutane (DEB). Consequently, the defect in FA is thought to be in DNA crosslink repair. Additional cellular phenotypes of FA include oxygen sensitivity, poor cell growth and a G2 cell cycle delay. At least 5 complementation groups for Fanconi anaemia exist, termed A through E. One of the five FA genes, FA(C), has been identified by cDNA complementation, but no other FA genes have been mapped or cloned until now. The strategy of cDNA complementation, which was successful for identifying the FA(C) gene has not yet been successful for cloning additional FA genes. The alternative approach of linkage analysis, followed by positional cloning, is hindered in FA by genetic heterogeneity and the lack of a simple assay for determining complementation groups. In contrast to genetic linkage studies, microcell mediated chromosome transfer utilizes functional complementation to identify the disease bearin...Continue Reading

References

May 1, 1979·Experimental Cell Research·W E Mercer, R A Schlegel
Nov 1, 1979·Journal of Cellular Physiology·R WeksbergL Siminovitch
Jun 1, 1992·Nature Genetics·C A StrathdeeM Buchwald
Jun 4, 1992·Nature·R H Mole
Feb 11, 1988·Nucleic Acids Research·S A MillerH F Polesky
Jan 1, 1982·Cytogenetics and Cell Genetics·M M CohenA O Martin
Oct 1, 1981·Proceedings of the National Academy of Sciences of the United States of America·R E Fournier
Aug 1, 1993·Cancer Genetics and Cytogenetics·R BergerM C Gendron

❮ Previous
Next ❯

Citations

Jul 1, 1996·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·M Digweed, K Sperling
Jan 1, 1997·Somatic Cell and Molecular Genetics·P M JakobsM Grompe
Sep 4, 2001·International Journal of Hematology·T Yamashita, T Nakahata
Mar 10, 2001·Molecular Cell·C TimmersM Grompe
Jun 5, 1998·Molecular Medicine Today·M Carreau, M Buchwald
Nov 1, 1995·Nature Genetics·M Buchwald
Nov 1, 1996·Nature Genetics·A D D'Andrea
Nov 1, 1996·Nature Genetics·J R Lo Ten FoeH Joenje
Dec 17, 1997·Nature Genetics·G M KupferA D D'Andrea
Nov 11, 1999·British Journal of Haematology·F LeteurtreE Gluckman
Sep 1, 1999·Proceedings of the National Academy of Sciences of the United States of America·Q WaisfiszH Joenje
Feb 1, 1997·Human Molecular Genetics·W LiebetrauH Hoehn
Mar 24, 1999·Current Opinion in Hematology·I Garcia-HigueraA D D'Andrea
Sep 16, 2004·Molecular and Cellular Biology·Jun MiGary M Kupfer
Feb 12, 1998·The Journal of Clinical Investigation·Y Li, H Youssoufian
Nov 24, 2012·Cell Division·Natalia CanelDaniel Salamone
Oct 28, 1998·Proceedings of the National Academy of Sciences of the United States of America·T YamashitaA D D'Andrea
Jul 22, 1997·Proceedings of the National Academy of Sciences of the United States of America·J P RadicellaS Boiteux
Dec 16, 1997·Proceedings of the National Academy of Sciences of the United States of America·O LevranA D Auerbach
Dec 9, 2008·Mutation Research·Johan P de Winter, Hans Joenje
Apr 17, 1999·American Journal of Human Genetics·Q WaisfiszM Digweed
Dec 9, 2014·Cell Cycle·Rebecca A Boisvert, Niall G Howlett
Oct 24, 2000·Growth Hormone & IGF Research : Official Journal of the Growth Hormone Research Society and the International IGF Research Society·E SchoofH G Doerr
Oct 16, 1999·American Journal of Human Genetics·N V MorganC G Mathew
Oct 13, 2000·Baillière's Best Practice & Research. Clinical Haematology·I Dokal
Jun 27, 1998·Journal of Molecular Biology·M EscarcellerD Papadopoulo
Aug 28, 1998·Journal of Molecular Biology·J SmithD Papadopoulo
May 31, 2017·Genetics and Molecular Biology·Anna GueiderikhJanuario B C Neto
Mar 10, 2001·Molecular Cell·I Garcia-HigueraA D D'Andrea
Dec 30, 1999·Nature Genetics·J P de WinterH Joenje
Apr 15, 2004·The Journal of Biological Chemistry·Andrei ThomashevskiGary M Kupfer
Jun 5, 2001·Nature Reviews. Genetics·H Joenje, K J Patel
Nov 7, 1998·Nature Genetics·J P de WinterH Joenje
Nov 25, 2003·Blood·Marieke LevitusHans Joenje
Sep 20, 2002·Blood·Toshiyasu Taniguchi, Alan D D'Andrea
Jun 11, 1999·Journal of Pediatric Hematology/oncology·R E GoldsbyC S Bruggers
Jun 27, 2003·Journal of Human Genetics·Chiraz BouchlakaUNKNOWN Tunisian Fanconi Anemia Study Group

❮ Previous
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