Human Molecular Genetics, Vol 5, 85-93, Copyright © 1996 by Oxford University Press
F Krasnoshtein and M Buchwald
Fanconi anemia (FA) is a genetically heterogeneous, autosomal recessive
disorder characterized by a variety of congenital and skeletal
malformations, progressive pancytopaenia and predisposition to
malignancies. While the basic defect in this disease is not known, the
cloning of the gene defective in FA group C patients (FAC) allows analysis
of its expression pattern, which may provide clues about the functional
properties of the protein. This paper describes the distribution of Fac
transcripts during murine development (8-19.5 days p.c.), using RNA in situ
hybridization. Fac is initially expressed (8- 10 days p.c.) in the
mesenchyme and its derivatives with osteogenic potential. The transcript is
also apparent at later stages of bone development (13-19.5 days p.c.),
localized to cells of the inner perichondrium, periosteum and zone of
endochondral ossification. In the latter, Fac transcripts are seen in cells
from both osteogenic and hematopoietic lineages. Fac mRNA is also seen in
intramembranous cranial and facial bones. In addition, Fac signal is
detected in non- skeletal tissues: brain, whisker follicles, lung, kidney,
gut and stomach. Fac expression is high in progenitor cell populations but
is downregulated in differentiating cells that give rise to connective
tissue. The pattern of Fac expression is consistent with the skeletal and
non-skeletal congenital abnormalities in FA patients. As well, expression
in rapidly dividing progenitors is consistent with hypotheses regarding the
nature of the basic defect in FA: a role of the protein in DNA repair or
protection from oxygen toxicity.
ARTICLES
Developmental expression of the Fac gene correlates with congenital defects in Fanconi anemia patients
Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.
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