Positional cloning of a novel Fanconi anemia gene, FANCD2.

Molecular cell ·Vol. 7 ·No. 2 ·2001-02-00 ·Pages 241-8

Timmers C, Taniguchi T, Hejna J, Reifsteck C, Lucas L, Bruun D, Thayer M, Cox B, Olson S, D'Andrea AD, Moses R, Grompe M

Abstract

Fanconi anemia (FA) is a genetic disease with birth defects, bone marrow failure, and cancer susceptibility. To date, genes for five of the seven known complementation groups have been cloned. Complementation group D is heterogeneous, consisting of two distinct genes, FANCD1 and FANCD2. Here we report the positional cloning of FANCD2. The gene consists of 44 exons, encodes a novel 1451 amino acid nuclear protein, and has two protein isoforms. Similar to other FA proteins, the FANCD2 protein has no known functional domains, but unlike other known FA genes, FANCD2 is highly conserved in A. thaliana, C. elegans, and Drosophila. Retroviral transduction of the cloned FANCD2 cDNA into FA-D2 cells resulted in functional complementation of MMC sensitivity.

MeSH Terms

Alleles Amino Acid Sequence Base Sequence Blotting, Western Cell Line Chromosome Breakage/genetics Cloning, Molecular DNA Mutational Analysis Drosophila Proteins Epoxy Compounds/pharmacology Fanconi Anemia/genetics Fanconi Anemia Complementation Group D2 Protein Female Gene Expression Profiling Genetic Complementation Test Humans Male Mitomycin/pharmacology Molecular Sequence Data Mutation/genetics Nuclear Proteins/chemistry,genetics Pedigree Phenotype Protein Isoforms/chemistry,genetics RNA, Messenger/analysis,genetics Sequence Alignment Transduction, Genetic

Chemicals

Drosophila Proteins Epoxy Compounds FANCD2 protein, human Fancd2 protein, Drosophila Fanconi Anemia Complementation Group D2 Protein Nuclear Proteins Protein Isoforms RNA, Messenger Mitomycin diepoxybutane

Authors & Affiliations

12 authors, click to expand affiliations / ORCID

Timmers C

Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, OR 97201, USA.

Taniguchi T

Hejna J

Reifsteck C

Lucas L

Bruun D

Thayer M

Cox B

Olson S

D'Andrea A D

Moses R

Grompe M

Article Info

Journal

Molecular cell

Abbr.

Mol Cell

ISSN

1097-2765

DOI

10.1016/s1097-2765(01)00172-1

Published

2001-02-00

Pages

241-8

Language

English

Region

United States

NLM ID

9802571

Subset

Databases

GENBANK

AA609512, AF273222, AF273223, AF273224, AF273225, AF273226, AF273227, AF273228, AF273229, AF273230, AF273231, AF273232, AF273233, AF273234, AF273235, AF273236, AF273237, AF273238, AF273239, AF273240, AF273241, AF273242, AF273243, AF273244, AF273245, AF273246, AF273247, AF273248, AF273249, AF273250, AF273251, AF340183

External Links

PubMed source DOI: 10.1016/s1097-2765(01)00172-1 View journal details

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Positional cloning of a novel Fanconi anemia gene, FANCD2.

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