Splicing mutations account for approximately 10% of lesions causing genetic diseases, but few branchpoint sequence (BPS) lesions have been reported. In 3 families with autosomal recessive congenital erythropoietic porphyria (CEP) resulting from uroporphyrinogen III synthase (URO-synthase) deficiency, sequencing the promoter, all 10 exons and the intron/exon boundaries did not detect a mutation....

objective: polymorphism of the size of heterochromatin region of chromosomes has been well documented in human genome and it consists of dna sequences that are not transcribed. the prime aim of the present study was to evaluate the heterochromatin polymorphism associated with chromosomes in leukemic patients. materials and methods: the study was conducted on 35 consecutive leukemic patients and...

Deoxycytidine (dCyd) kinase is required for the phosphorylation of several deoxyribonucleosides and certain nucleoside analogs widely employed as antiviral and chemotherapeutic agents. Detailed analysis of this enzyme has been limited, however, by its low abundance and instability. Using oligonucleotides based on primary amino acid sequence derived from purified dCyd kinase, we have screened T-...

characteristics of uridineand methyl-labeled low molecular weight RNA (4S and. 5S) of human lymphoblasts from Burkitt lymphoma, infectious mononucleosis, and EB-virus transformed lymphocytes were compared with lymphoblasts from normal donors (cell line) and phytohernagglutinin (PHA)-transformed peripheral blood lymphocytes. No significant differences in these RNA profiles were found between the...

characteristics of uridineand methyl-labeled low molecular weight RNA (4S and. 5S) of human lymphoblasts from Burkitt lymphoma, infectious mononucleosis, and EB-virus transformed lymphocytes were compared with lymphoblasts from normal donors (cell line) and phytohernagglutinin (PHA)-transformed peripheral blood lymphocytes. No significant differences in these RNA profiles were found between the...

Three 6-thioguanine-resistant mutants of the human diploid lymphoblast line MGL-8 were studied. The inactivation by heat of both HGPRT activity and antigenicity of the HGPRT immunologically cross-reacting material of the A30 mutant cells were not protected by PRPP, indicating that the HGPRT in A30 cells has an altered PRPP binding site, leading to lack of stabilization and rapid degradation of ...

Steroid auto-regulation of the human glucocorticoid receptor (hGR) 1A promoter in lymphoblast cells resides largely in two DNA elements (footprints 11 and 12). We show here that c-Myb and c-Ets family members (Ets-1/2, PU.1, and Spi-B) control hGR 1A promoter regulation in T- and B-lymphoblast cells. Two T-lymphoblast lines, CEM-C7 and Jurkat, contain high levels of c-Myb and low levels of PU.1...