Hereditary fructose intolerance (HFI) is an autosomal recessive metabolic disorder caused by aldolase (fructosediphosphate aldolase, EC 4.1.2.13) B deficiency. The B isoform of aldolase is critical for the metabolism of exogenous fructose by the liver, kidney, and intestine, since it can use fructose-1-phosphate as substrate at physiological concentrations, unlike aldolases A and C. Affected su...

We previously cloned cDNAs for all the members (A, B and C) of Xenopus aldolase gene family, and using in vitro transcribed RNAs as references, performed quantitative studies of the expression of three aldolase mRNAs in embryos and adult tissues. A Xenopus egg contains ca. 60 pg aldolase A mRNA and ca. 45 pg aldolase C mRNA, but contains only ca. 1.5 pg aldolase B mRNA. The percent composition ...

This study characterizes regulatory elements of collagen 2 alpha 1 (col2a1) in Xenopus that enable transgene expression in cartilage-forming chondrocytes. The reporters described in this study drive strong cartilage-specific gene expression, which will be a valuable tool for further investigations of Xenopus skeletal development. While endogenous col2a1 mRNA is expressed in many embryonic tissu...

The intronic enhancer (E mu) of the immunoglobulin heavy chain (IgH) locus is critical for V region gene assembly. To determine E mu's subsequent functions, we created an Igh allele with assembled V(H) gene but with E mu removed. In mice homozygous for this E mu-deficient allele, B cell development was normal and indistinguishable from that of mice with the same V(H) knockin and E mu intact. In...

Hereditary fructose intolerance (HFI) is an autosomal recessive metabolic disorder caused by aldolase (fructosediphosphate aldolase, EC 4.1.2.13) B deficiency. The B isoform of aldolase is critical for the metabolism of exogenous fructose by the liver, kidney, and intestine, since it can use fructose-1-phosphate as substrate at physiological concentrations, unlike aldolases A and C. Affected su...

1. Yao DC, Tolan DR, Murray MF, et al. Hemolytic anemia and severe rhabdomyolysis caused by compound heterozygous mutations of the gene for the erythrocyte/muscle isozyme of aldolase, ALDOA (Arg303X/Cys338Tyr). Blood. 2004;103:2401-2403. 2. Kishi H, Mukai T, Hirono A, et al. Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation. Proc...