Mapping of the murine and rat Facc genes and assessment of flexed-tail as a candidate mouse homolog of Fanconi anemia group C.
Fanconi anemia is a rare, autosomal recessive disorder characterized at the cellular level by a combination of hypersensitivity to DNA-damaging agents and chromosomal instability. Clinical features include pancytopenia, often associated with specific congenital malformations, and a predisposition to leukemia. We previously cloned the gene defective in Fanconi anemia group C by complementation of the intrinsic sensitivity of Fanconi anemia cells to DNA cross-linking agents, and we recently cloned its mouse homolog (Facc). In this report, we localized Facc to mouse Chromosome (Chr) 13 and its rat homolog to rat Chr 17. A previously described anemic mouse mutant, flexed-tail, maps to the same chromosomal region. Differences were detected between DNA of the flexed-tail and congenic mice, indicating the proximity of the Facc probe to the disease mutation. Analysis of flexed-tail RNA did not reveal detectable difference in Facc message level or size between flexed-tail and congenic mice. On this basis, we conclude that, although flexed-tail remains a candidate for Fanconi anemia in the mouse, there is no evidence currently that Facc is mutated in flexed-tail mice.
Wevrick
R
R
Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
Barker
J E
JE
Nadeau
J H
JH
Szpirer
C
C
Buchwald
M
M
D000818:Animals; D015139:Blotting, Southern; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D004195:Disease Models, Animal; D005199:Fanconi Anemia / Q000235:genetics*; D006801:Humans; D006822:Hybrid Cells; D051379:Mice / Q000235:genetics*; D011061:Poly A / Q000032:analysis; D012313:RNA / Q000032:analysis; D012333:RNA, Messenger; D051381:Rats / Q000235:genetics*; D012689:Sequence Homology, Nucleic Acid; D013623:Tail / Q000002:abnormalities*
D012333:RNA, Messenger; D011061:Poly A; D012313:RNA