Source/description: Fructose-1, 6-bisphosphate aldolase is a glycolytic enzyme which plays a critical role in the reversible conversion of fructose-1, 6-bisphosphate to glyceraldehydes 3-phosphate and dihydroxyacetone phosphate. It is reported that in vertebrates fructose-1, 6-bisphosphate aldolase has three isozymes: aldolase A, fructose-bisphosphate (ALDOA); aldolase B, fructose-bisphosphate ...

Previous reports of GATA2 mutations have focused on the coding region of the gene or full gene deletions. We recently identified 2 patients with novel insertion/deletion mutations predicted to result in mRNA nonsense-mediated decay, suggesting haploinsufficiency as the mechanism of GATA2 deficient disease. We therefore screened patients without identified exonic lesions for mutations within con...

Enhancers regulate lineage choice and the developmental timing of antigen receptor gene rearrangements. The transcription factor NF-kappaB has been implicated as a key component of the recombination and transcription activation potential of the immunoglobulin kappa chain gene intronic enhancer. Here, I discuss the implications of the new observation that an NF-kappaB binding site-mutated enhanc...

Hereditary fructose intolerance (HFI, OMIM 22960), caused by catalytic deficiency of aldolase B (fructose-1,6-bisphosphate aldolase, EC 4.1.2.13), is a recessively inherited condition in which affected homozygotes develop hypoglycaemic and severe abdominal symptoms after taking foods containing fructose and cognate sugars. Continued ingestion of noxious sugars leads to hepatic and renal injury ...

Aldolase C is regarded as the brain-specific form of fructose-1, 6-bisphosphate aldolase whereas aldolase A is regarded as muscle-specific. In situ hybridization of mouse central nervous system using isozyme-specific probes revealed that aldolase A and C are expressed in complementary cell types. With the exception of cerebellar Purkinje cells, aldolase A mRNA is found in neurons; aldolase C me...

Abbreviat ions : adrenocorticotrophic hormone, (ACTH); casein kinase I, (CKI); Cdc2-like kinase, (Clk); Concanavalin A, (ConA); cystic fibrosis transmembrane conductance regulator, (CFTR); epidermal growth factor, (EGF); exonic splicing enhancer, (ESE); exonic splicing silencer, (ESS); fibroblast growth factor, (FGF); heterogeneous nuclear protein, (hnRNP); interferon, (IFN); interleukin, (IL);...

in the TCR␤ locus abolished both germline transcription of the D␤-J␤ gene segments and ␤ gene rearrangement (Mathieu et al., 2000). Deletion of either the Ig␬ intronic Summary enhancer or the 3Ј enhancer had modest effects on rearrangement, whereas expression was largely normal Many mammalian genes, including those encoding an-in both cases (Xu et al., 1996; Gorman et al., 1996). In the tigen r...