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Full-Text Articles in Medicine and Health Sciences
A Common Human Beta Globin Splicing Mutation Modeled In Mice., J. Lewis, Baoli Yang, R. Kim, H. Sierakowska, R. Kole, O. Smithies, N. Maeda
A Common Human Beta Globin Splicing Mutation Modeled In Mice., J. Lewis, Baoli Yang, R. Kim, H. Sierakowska, R. Kole, O. Smithies, N. Maeda
Baoli Yang
The betaIVS-2-654 C-->T mutation accounts for approximately 20% of beta thalassemia mutations in southern China; it causes aberrant RNA splicing and leads to beta0 thalassemia. To provide an animal model for testing therapies for correcting splicing defects, we have used the "plug and socket" method of gene targeting in murine embryonic stem cells to replace the two (cis) murine adult beta globin genes with a single copy of the human betaIVS-2-654 gene. No homozygous mice survive postnatally. Heterozygous mice carrying this mutant gene produce reduced amounts of the mouse beta globin chains and no human beta globin, and have …
Identification Of A Tripartite Basal Promoter Which Regulates Human Terminal Deoxynucleotidyl Transferase Gene Expression., D. Bhaumik, Baoli Yang, T. Trangas, J. Bartlett, M. Coleman, D. Sorscher
Identification Of A Tripartite Basal Promoter Which Regulates Human Terminal Deoxynucleotidyl Transferase Gene Expression., D. Bhaumik, Baoli Yang, T. Trangas, J. Bartlett, M. Coleman, D. Sorscher
Baoli Yang
In order to locate the promoter region of the human terminal deoxynucleotidyl transferase gene, serially truncated segments of the 5'-flanking region of the gene were cloned into a chloramphenicol acetyltransferase reporter vector. Transient transfection analyses of the terminal transferase-reporter gene constructs identified the basal promoter region within -34 to +40 base pairs relative to the transcription start site. Three promoter elements were defined in this region. The primary element is within 34 base pairs upstream of the transcription start site. The CAP site is 62 base pairs upstream of the translation start site. The secondary element involves sequences around the …