Generation and Characterization of a Transgenic Mouse Carrying a Functional Humanβ-Globin Gene with the IVSI-6 Thalassemia Mutation Article Swipe
Giulia Breveglieri
,
Irene Mancini
,
Nicoletta Bianchi
,
Ilaria Lampronti
,
Francesca Salvatori
,
Enrica Fabbri
,
Cristina Zuccato
,
Lucia Carmela Cosenza
,
Giulia Montagner
,
Monica Borgatti
,
Fiorella Altruda
,
Sharmila Fagoonee
,
Gianni Carandina
,
Michele Rubini
,
Vincenzo Aiello
,
Laura Breda
,
Stefano Rivella
,
Roberto Gambari
,
Alessia Finotti
·
YOU?
·
· 2015
· Open Access
·
· DOI: https://doi.org/10.1155/2015/687635
YOU?
·
· 2015
· Open Access
·
· DOI: https://doi.org/10.1155/2015/687635
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-globin 2 /-globin 2 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.
Related Topics
Concepts
Transgene
Genetically modified mouse
Mutation
In vivo
Molecular biology
Globin
Hemoglobin
Thalassemia
Biology
Gene
Genetics
Biochemistry
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1155/2015/687635
- http://downloads.hindawi.com/journals/bmri/2015/687635.pdf
- OA Status
- hybrid
- Cited By
- 3
- References
- 52
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W1563519797
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W1563519797Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1155/2015/687635Digital Object Identifier
- Title
-
Generation and Characterization of a Transgenic Mouse Carrying a Functional Humanβ-Globin Gene with the IVSI-6 Thalassemia MutationWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2015Year of publication
- Publication date
-
2015-01-01Full publication date if available
- Authors
-
Giulia Breveglieri, Irene Mancini, Nicoletta Bianchi, Ilaria Lampronti, Francesca Salvatori, Enrica Fabbri, Cristina Zuccato, Lucia Carmela Cosenza, Giulia Montagner, Monica Borgatti, Fiorella Altruda, Sharmila Fagoonee, Gianni Carandina, Michele Rubini, Vincenzo Aiello, Laura Breda, Stefano Rivella, Roberto Gambari, Alessia FinottiList of authors in order
- Landing page
-
https://doi.org/10.1155/2015/687635Publisher landing page
- PDF URL
-
https://downloads.hindawi.com/journals/bmri/2015/687635.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
hybridOpen access status per OpenAlex
- OA URL
-
https://downloads.hindawi.com/journals/bmri/2015/687635.pdfDirect OA link when available
- Concepts
-
Transgene, Genetically modified mouse, Mutation, In vivo, Molecular biology, Globin, Hemoglobin, Thalassemia, Biology, Gene, Genetics, BiochemistryTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
3Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 1, 2023: 1, 2018: 1Per-year citation counts (last 5 years)
- References (count)
-
52Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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