Generation and Characterization of a Transgenic Mouse Carrying a Functional Human β -Globin Gene with the IVSI-6 Thalassemia Mutation.
Generation and Characterization of a Transgenic Mouse Carrying a Functional Human β -Globin Gene with the IVSI-6 Thalassemia Mutation.
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DOI：
10.1155/2015/687635
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发表时间：
2015
影响因子：
--
通讯作者：
Finotti A
中科院分区：
文献类型：
--
作者：
Breveglieri G;Mancini I;Bianchi N;Lampronti I;Salvatori F;Fabbri E;Zuccato C;Cosenza LC;Montagner G;Borgatti M;Altruda F;Fagoonee S;Carandina G;Rubini M;Aiello V;Breda L;Rivella S;Gambari R;Finotti A
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 mu α-globin2/hu β-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.
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影响因子：
2.4
作者：
Feriotto, Giordana;Salvatori, Francesca;Gambari, Roberto
通讯作者：
Gambari, Roberto
DOI：
10.1073/pnas.92.20.9259
发表时间：
1995-09-26
影响因子：
11.1
作者：
CIAVATTA, DJ;RYAN, TM;TOWNES, TM
通讯作者：
TOWNES, TM
影响因子：
3.1
作者：
Lampronti, I;Bianchi, N;Gambari, R
通讯作者：
Gambari, R
影响因子：
14.9
作者：
Lonkar, Pallavi;Kim, Ki-Hyun;Glazer, Peter M.
通讯作者：
Glazer, Peter M.
影响因子：
20.3
作者：
Danckwardt, S;Neu-Yilik, G;Kulozik, AE
通讯作者：
Kulozik, AE