Beta+45 G --> C: a novel silent beta-thalassaemia mutation, the first in the Kozak sequence (Articolo in rivista)

Type

• Prodotto della ricerca (Classe)
• Articolo in rivista (Classe)

Label

• Beta+45 G --> C: a novel silent beta-thalassaemia mutation, the first in the Kozak sequence (Articolo in rivista) (literal)

Anno

• 2004-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

• 10.1046/j.1365-2141.2003.04754.x (literal)

Alternative label

• De Angioletti M.; Lacerra G.; Sabato V.; Carestia C. (2004)
  Beta+45 G --> C: a novel silent beta-thalassaemia mutation, the first in the Kozak sequence
  in British journal of haematology (Print)
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• De Angioletti M.; Lacerra G.; Sabato V.; Carestia C. (literal)

Pagina inizio

• 224 (literal)

Pagina fine

• 231 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 124 (literal)

Rivista

• British journal of haematology (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

• 2 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#descrizioneSinteticaDelProdotto

• PUBBLICAZIONE (literal)

Note

• ISI Web of Science (WOS) (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• Istituto di Genetica e Biofisica 'Adriano Buzzati Traverso', Napoli, Italy; Hospital 'Giovanni XXIII', Bari, Italy (literal)

Titolo

• Beta+45 G --> C: a novel silent beta-thalassaemia mutation, the first in the Kozak sequence (literal)

Abstract

• A family from the Southeast of Italy was found to have a novel beta-globin mutant, beta+45 G ->C, with the features of a silent beta-thalassaemia mutation. It was asymptomatic in two heterozygotes, but its interaction with the severe thalassaemia mutation beta-IVS-II-654 C->T worsened the haematological and biosynthetic phenotype in two compound heterozygotes; moreover, another compound heterozygote, who was also heterozygote for the aaa anti3.7, suffered from thalassaemia intermedia. The mutation was found associated in cis with the IVS-II-754 T->C substitution, which did not lead to abnormally spliced mRNA. Furthermore, the amount of beta+45 mRNA was the same as the beta A mRNA in the reticulocytes of the carriers. In vitro transcription/translation experiments demonstrated that the beta+45 G->C decreased the efficiency of translation of the beta-globin chain by about 30%: this slight impairment was consistent with the observed clinical phenotype. The beta+45 G->C is the first mutation found in the Kozak sequence (GACACCATGG) of the beta-globin gene and the first one at the position -6 upstream the ATG. The Kozak consensus sequence plays a major role in the initiation of translation process. The present finding supports the hypothesis that the G in position -6 is important in this process. (literal)

Prodotto di

• Variabilità del genoma ed alterazioni genetiche nell'uomo e loro impatto biologico - (SV.P13.004.001) (Modulo)
• Istituto di genetica e biofisica \"Adriano Buzzati Traverso\" (IGB) (Istituto)

Autore CNR

• CLEMENTINA CARESTIA (Persona)
• GIUSEPPINA LACERRA (Unità di personale interno)
• MARIA DE ANGIOLETTI (Unità di personale interno)

Insieme di parole chiave

• Keywords of "Beta+45 G --> C: a novel silent beta-thalassaemia mutation, the first in the Kozak sequence" (Insieme di parole chiave)

Incoming links:

Prodotto

• Istituto di genetica e biofisica \"Adriano Buzzati Traverso\" (IGB) (Istituto)
• Variabilità del genoma ed alterazioni genetiche nell'uomo e loro impatto biologico - (SV.P13.004.001) (Modulo)

Autore CNR di

• CLEMENTINA CARESTIA (Persona)
• MARIA DE ANGIOLETTI (Unità di personale interno)
• GIUSEPPINA LACERRA (Unità di personale interno)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• British journal of haematology (Rivista)

Insieme di parole chiave di

• Keywords of "Beta+45 G --> C: a novel silent beta-thalassaemia mutation, the first in the Kozak sequence" (Insieme di parole chiave)