Mammalian Genome 8,522-525 (1997). 9 Springer-Verlag New York Inc. 1997 Jasmine Ching Ying Wong, Noa Alon, Manuel Buchwald Department of Genetics, Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, and Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario M5S 1A8, Canada Received: 27 October 1996 / Accepted: 3 March 1997 Fanconi anemia (FA) is a rare autosomal recessive disorder char- five alignment score with the BLOSUM62 scoring matrix (Heni- acterized by a diverse array of symptoms including congenital koff and Henikoff 1992). malformations, progressive pancytopenia, predisposition to the de- The composite nucleotide sequence of the rat FAC cDNA re- velopment of malignancies, and cellular hypersensitivity to DNA- vealed the presence of a putative open reading frame (ORF) of crosslinking agents (Strathdee and Buchwald 1992). The clinical 1674 bp, while the putative ORF of the bovine FAC is 1701 bp heterogeneity of FA may be attributable to genetic heterogeneity in long. The sequences surrounding the ATG codon of both ho- the disease. Five genetic complementation groups, A, B, C, D, and mologs are consistent with the Kozak consensus sequence (Kozak E, have been identified to date (Strathdee et al. 1992a; Joenje
Mammalian Genome – Springer Journals
Published: Mar 24, 2009
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