Evidence map›Paper›PMID 26897028›Full record

ArticleMolecular diagnosis & therapy2016

Structural and Functional Insights on an Uncharacterized Aγ-Globin-Gene Polymorphism Present in Four β0-Thalassemia Families with High Fetal Hemoglobin Levels.

Nicoletta Bianchi, Lucia Carmela Cosenza, Ilaria Lampronti, Alessia Finotti, Giulia Breveglieri, Cristina Zuccato, Enrica Fabbri, Giovanni Marzaro, Adriana Chilin, Gioia De Angelis and 12 more

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Article in Molecular diagnosis & therapy, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
2.0field-weighted citation impact, top 14% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

13 citing papers in PubMed, 21 citations in OpenAlex.

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  10. MicroRNAs and Long Non-coding RNAs in Genetic Diseases.Molecular diagnosis & therapy · 2019
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

22 authors at 2 institutions in 1 country.

Nicoletta BianchiDepartment of Life Sciences and Biotechnology, Ferrara University, Ferrara, Italy.
Lucia Carmela CosenzaDepartment of Life Sciences and Biotechnology, Ferrara University, Ferrara, Italy.
Ilaria LamprontiDepartment of Life Sciences and Biotechnology, Ferrara University, Ferrara, Italy.
Alessia FinottiDepartment of Life Sciences and Biotechnology, Ferrara University, Ferrara, Italy.
Giulia BreveglieriDepartment of Life Sciences and Biotechnology, Ferrara University, Ferrara, Italy.
Cristina ZuccatoDepartment of Life Sciences and Biotechnology, Ferrara University, Ferrara, Italy.
Enrica FabbriDepartment of Life Sciences and Biotechnology, Ferrara University, Ferrara, Italy.
Giovanni MarzaroDepartment of Pharmaceutical and Pharmacological Sciences, University of Padova, Padua, Italy.
Adriana ChilinDepartment of Pharmaceutical and Pharmacological Sciences, University of Padova, Padua, Italy.
Gioia De AngelisInternational Centre for Transplantation in Thalassemia and Sickle Cell Anaemia, Mediterranean Institute of Haematology, Policlinic of "Tor Vergata" University, Rome, Italy.
Monica BorgattiDepartment of Life Sciences and Biotechnology, Ferrara University, Ferrara, Italy.
Cristiano GallucciInternational Centre for Transplantation in Thalassemia and Sickle Cell Anaemia, Mediterranean Institute of Haematology, Policlinic of "Tor Vergata" University, Rome, Italy.
Cecilia AlfieriInternational Centre for Transplantation in Thalassemia and Sickle Cell Anaemia, Mediterranean Institute of Haematology, Policlinic of "Tor Vergata" University, Rome, Italy.
Michela RibersaniInternational Centre for Transplantation in Thalassemia and Sickle Cell Anaemia, Mediterranean Institute of Haematology, Policlinic of "Tor Vergata" University, Rome, Italy.
Antonella IsgròInternational Centre for Transplantation in Thalassemia and Sickle Cell Anaemia, Mediterranean Institute of Haematology, Policlinic of "Tor Vergata" University, Rome, Italy.
Marco MarzialiInternational Centre for Transplantation in Thalassemia and Sickle Cell Anaemia, Mediterranean Institute of Haematology, Policlinic of "Tor Vergata" University, Rome, Italy.
Javid GazievInternational Centre for Transplantation in Thalassemia and Sickle Cell Anaemia, Mediterranean Institute of Haematology, Policlinic of "Tor Vergata" University, Rome, Italy.
Aldo MorroneInternational Centre for Transplantation in Thalassemia and Sickle Cell Anaemia, Mediterranean Institute of Haematology, Policlinic of "Tor Vergata" University, Rome, Italy.
Pietro SodaniInternational Centre for Transplantation in Thalassemia and Sickle Cell Anaemia, Mediterranean Institute of Haematology, Policlinic of "Tor Vergata" University, Rome, Italy.
Guido LucarelliInternational Centre for Transplantation in Thalassemia and Sickle Cell Anaemia, Mediterranean Institute of Haematology, Policlinic of "Tor Vergata" University, Rome, Italy.
Roberto GambariDepartment of Life Sciences and Biotechnology, Ferrara University, Ferrara, Italy. gam@unife.it.
Katia PaciaroniInternational Centre for Transplantation in Thalassemia and Sickle Cell Anaemia, Mediterranean Institute of Haematology, Policlinic of "Tor Vergata" University, Rome, Italy.
University of Ferrara · ITUniversity of Padua · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionSeveral DNA polymorphisms have been associated with high production of fetal hemoglobin (HbF), although the molecular basis is not completely understood. In order to identify and characterize novel HbF-associated elements, we focused on five probands and their four families (from Egypt, Iraq and Iran) with thalassemia major (either β(0)-IVSII-1 or β(0)-IVSI-1) and unusual HbF elevation (>98 %), congenital or acquired after rejection of bone marrow transplantation, suggesting an anticipated favorable genetic background to high HbF expression.

methodsPatient recruitment, genomic DNA sequencing, western blotting, electrophoretic mobility shift assays, surface plasmon resonance (SPR) biospecific interaction analysis, bioinformatics analyses based on docking experiments.

resultsA polymorphism of the Aγ-globin gene is here studied in four families with β(0)-thalassemia (β(0)-IVSII-1 and β(0)-IVSI-1) and expressing unusual high HbF levels, congenital or acquired after rejection of bone marrow transplantation. This (G→A) polymorphism is present at position +25 of the Aγ-globin genes, corresponding to a 5'-UTR region of the Aγ-globin mRNA and, when present, is physically linked in chromosomes 11 of all the familiar members studied to the XmnI polymorphism and to the β(0)-thalassemia mutations. The region corresponding to the +25(G→A) polymorphism of the Aγ-globin gene belongs to a sequence recognized by DNA-binding protein complexes, including LYAR (Ly-1 antibody reactive clone), a zinc-finger transcription factor previously proposed to be involved in down-regulation of the expression of γ-globin genes in erythroid cells.

conclusionWe found a novel polymorphism of the Aγ-globin gene in four families with β(0)-thalassemia and high levels of HbF expression. Additionally, we report evidence suggesting that the Aγ-globin gene +25(G→A) polymorphism decreases the efficiency of the interaction between this sequence and specific DNA binding protein complexes.

Indexed as

Polymorphism, Single NucleotideAdolescentbeta-ThalassemiaChildChild, PreschoolChromosomes, Human, Pair 11DNA-Binding ProteinsFemaleFetal Hemoglobingamma-GlobinsHumansK562 CellsMalePedigreeDNA-Binding ProteinsFetal Hemoglobingamma-Globins

Identifiers

PMID26897028
OpenAlexW2276606954

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.