التفاصيل البيبلوغرافية
| العنوان: |
Generation and Characterization of a Transgenic Mouse Carrying a Functional Human β -Globin Gene with the IVSI-6 Thalassemia Mutation. |
| المؤلفون: |
Breveglieri, Giulia1,2 giulia.breveglieri@unife.it, Mancini, Irene1 irene.mancini@unife.it, Bianchi, Nicoletta1 nicoletta.bianchi@unife.it, Lampronti, Ilaria1 ilaria.lampronti@unife.it, Salvatori, Francesca1,2 francesca.salvatori@unife.it, Fabbri, Enrica1 enrica.fabbri@unife.it, Zuccato, Cristina1 cristina.zuccato@unife.it, Cosenza, Lucia C.1,2 luciacarmela.cosenza@unife.it, Montagner, Giulia1 giulia.montagner@unife.it, Borgatti, Monica1 monica.borgatti@unife.it, Altruda, Fiorella3 fiorella.altruda@unito.it, Fagoonee, Sharmila3 sharmila.fagoonee@unito.it, Carandina, Gianni4 elba01@libero.it, Rubini, Michele5 michele.rubini@unife.it, Aiello, Vincenzo5 vincenzo.aiello@unife.it, Breda, Laura6 lab2002@med.cornell.edu, Rivella, Stefano6 str2010@med.cornell.edu, Gambari, Roberto1,2 roberto.gambari@unife.it, Finotti, Alessia1,2 alessia.finotti@unife.it |
| المصدر: |
BioMed Research International. 5/4/2015, Vol. 2015, p1-20. 20p. |
| مصطلحات موضوعية: |
*GENETICS of thalassemia, *ANIMAL experimentation, *BIOLOGICAL models, *ELECTROPHORESIS, *GENES, *RESEARCH methodology, *MICE, *GENETIC mutation, *POLYMERASE chain reaction, *RESEARCH funding, *TISSUE culture, *WESTERN immunoblotting, *FLUORESCENCE in situ hybridization |
| مستخلص: |
Mouse models that carry mutations causing thalassemia represent a suitable tool to test in vivo new mutation-specific therapeutic approaches. Transgenic mice carrying the β-globin IVSI-6 mutation (the most frequent in Middle-Eastern regions and recurrent in Italy and Greece) are, at present, not available. We report the production and characterization of a transgenic mouse line (TG-β-IVSI-6) carrying the IVSI-6 thalassemia point mutation within the human β-globin gene. In the TG-β-IVSI-6 mouse (a) the transgenic integration region is located in mouse chromosome 7; (b) the expression of the transgene is tissue specific; (c) as expected, normally spliced human β-globin mRNA is produced, giving rise to β-globin production and formation of a human-mouse tetrameric chimeric hemoglobin αmu-globin2/βhu-globin2 and, more importantly, (d) the aberrant β-globin-IVSI-6 RNAs are present in blood cells. The TG-β-IVSI-6 mouse reproduces the molecular features of IVSI-6 β-thalassemia and might be used as an in vivo model to characterize the effects of antisense oligodeoxynucleotides targeting the cryptic sites responsible for the generation of aberrantly spliced β-globin RNA sequences, caused by the IVSI-6 mutation. These experiments are expected to be crucial for the development of a personalized therapy for β-thalassemia. [ABSTRACT FROM AUTHOR] |
| قاعدة البيانات: |
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