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Structural and Functional Characterization of a New Double Variant Haemoglobin (HbG-PhiladelphiaDuarte α268Asn→Lysβ262Ala→Pro)
Joint Authors
Corda, Marcella
Ceccarelli, Matteo
Era, Benedetta
Sollaino, Maria Carla
Ruggerone, Paolo
Fais, Antonella
Porcu, Simona
Anedda, Roberto
Casu, Mariano
Galanello, Renzo
Source
Issue
Vol. 2011, Issue 2011 (31 Dec. 2011), pp.1-10, 10 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2010-11-29
Country of Publication
Egypt
No. of Pages
10
Main Subjects
Abstract EN
We report the first case of cosegregation of two haemoglobins (Hbs): HbG-Philadelphia [α68(E17)Asn→Lys] and HbDuarte [β62(E6)Ala→Pro].
The proband is a young patient heterozygous also for β∘-thalassaemia.
We detected exclusively two haemoglobin variants: HbDuarte and HbG-Philadelphia/Duarte.
Functional study of the new double variant HbG-Philadelphia/Duarte exhibited an increase in oxygen affinity, with a slight decrease of cooperativity and Bohr effect.
This functional behaviour is attributed to β62Ala→Pro instead of α68Asn→Lys substitution.
Indeed, HbG-Philadelphia isolated in our laboratory from blood cells donor carrier for this variant is not affected by any functional modification, whereas purified Hb Duarte showed functional properties very similar to the double variant.
NMR and MD simulation studies confirmed that the presence of Pro instead of Ala at the β62 position produces displacement of the E helix and modifications of the tertiary structure.
The substitution α68(E17)Asn→Lys does not cause significant structural and dynamical modifications of the protein.
A possible structure-based rational of substitution effects is suggested.
American Psychological Association (APA)
Fais, Antonella& Casu, Mariano& Ruggerone, Paolo& Ceccarelli, Matteo& Porcu, Simona& Era, Benedetta…[et al.]. 2010. Structural and Functional Characterization of a New Double Variant Haemoglobin (HbG-PhiladelphiaDuarte α268Asn→Lysβ262Ala→Pro). ISRN Hematology،Vol. 2011, no. 2011, pp.1-10.
https://search.emarefa.net/detail/BIM-494484
Modern Language Association (MLA)
Fais, Antonella…[et al.]. Structural and Functional Characterization of a New Double Variant Haemoglobin (HbG-PhiladelphiaDuarte α268Asn→Lysβ262Ala→Pro). ISRN Hematology No. 2011 (2011), pp.1-10.
https://search.emarefa.net/detail/BIM-494484
American Medical Association (AMA)
Fais, Antonella& Casu, Mariano& Ruggerone, Paolo& Ceccarelli, Matteo& Porcu, Simona& Era, Benedetta…[et al.]. Structural and Functional Characterization of a New Double Variant Haemoglobin (HbG-PhiladelphiaDuarte α268Asn→Lysβ262Ala→Pro). ISRN Hematology. 2010. Vol. 2011, no. 2011, pp.1-10.
https://search.emarefa.net/detail/BIM-494484
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-494484