Mammalian Genome

, Volume 11, Issue 4, pp 326–331

Cloning and characterization of murine Fanconi anemia group A gene: Fanca protein is expressed in lymphoid tissues, testis, and ovary

  • Henri J.  van de Vrugt
  • Ngan Ching  Cheng
  • Yne  de Vries
  • Martin A.  Rooimans
  • Jan  de Groot
  • Rik J.  Scheper
  • Yu  Zhi
  • Maureen E.  Hoatlin
  • Hans  Joenje
  • Fré Arwert

DOI: 10.1007/s003350010060

Cite this article as:
van de Vrugt, H., Cheng, N., de Vries, Y. et al. (2000) 11: 326. doi:10.1007/s003350010060

Abstract.

Fanconi anemia (FA) is an autosomal recessive disorder in humans characterized by bone marrow failure, cancer predisposition, and cellular hypersensitivity to cross-linking agents such as mitomycin C and diepoxybutane. FA genes display a caretaker function essential for maintenance of genomic integrity. We have cloned the murine homolog of FANCA, the gene mutated in the major FA complementation group (FA-A). The full-length mouse Fanca cDNA consists of 4503 bp and encodes a protein with a predicted molecular weight of 161 kDa. The deduced Fanca mouse protein shares 81% amino acid sequence similarity and 66% identity with the human protein. The nuclear localization signal and partial leucine zipper consensus motifs found in the human FANCA protein were also present in the murine homolog. In spite of the species difference, the murine Fanca cDNA was capable of correcting the cross-linker sensitive phenotype of human FA-A cells, suggesting functional conservation. Based on Northern as well as Western blots, Fanca was mainly expressed in lymphoid tissues, testis, and ovary. This expression pattern correlates with some of the clinical symptoms observed in FA patients. The availability of the murine Fanca cDNA now allows the gene to be studied in experimental mouse models.

Copyright information

© Springer-Verlag New York Inc. 2000

Authors and Affiliations

  • Henri J.  van de Vrugt
    • 1
  • Ngan Ching  Cheng
    • 1
  • Yne  de Vries
    • 1
  • Martin A.  Rooimans
    • 1
  • Jan  de Groot
    • 2
  • Rik J.  Scheper
    • 2
  • Yu  Zhi
    • 3
  • Maureen E.  Hoatlin
    • 3
  • Hans  Joenje
    • 1
  • Fré Arwert
    • 1
  1. 1.Department of Clinical Genetics and Human Genetics, Free University Medical Centre, Amsterdam, The NetherlandsNL
  2. 2.Department of Pathology, Free University Medical Centre, Van de Boechorststraat 7, NL-1081 BT, Amsterdam, The NetherlandsNL
  3. 3.Division of Hematology and Medical Oncology, Oregon Health Sciences University, Portland, Oregon 97201, USAUS