About 80% of all cases of Fanconi anemia (FA) can be accounted for by compl
ementation groups A and C. To understand the relationship between these gro
ups, we analyzed the expression pattern of the mouse FA group-A gene (Fanca
) during embryogenesis and compared it with the known pattern of the group-
C gene (Fanca). Northern analysis of RNA from mouse embryos at embryonic da
ys 7, 11, 15, and 17 showed a predominant 4.5 kb band in all stages. By in
situ hybridization, Fanca transcripts were found in the whisker follicles,
teeth, brain, retina, kidney, liver, and limbs. There was also stage-specif
ic variation in Fanca expression, particularly within the developing whiske
rs and the brain. Some tissues known to express Fancc (eg, gut) failed to s
how Fanca expression. These observations show that (1) Fanca is under both
tissue- and stage-specific regulation in several tissues; (2) the expressio
n pattern of Fanca is consistent with the phenotype of the human disease; a
nd (3) Fanca expression is not necessarily coupled to that of Fancc. The pr
esence of distinct tissue targets for FA genes suggests that some of the va
riability in the clinical phenotype can be attributed to the complementatio
n group assignment. (C) 1999 by The American Society of Hematology.