Literature DB >> 17767159

A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15.

Stephan Menzel1, Chad Garner, Ivo Gut, Fumihiko Matsuda, Masao Yamaguchi, Simon Heath, Mario Foglio, Diana Zelenika, Anne Boland, Helen Rooks, Steve Best, Tim D Spector, Martin Farrall, Mark Lathrop, Swee Lay Thein.   

Abstract

F cells measure the presence of fetal hemoglobin, a heritable quantitative trait in adults that accounts for substantial phenotypic diversity of sickle cell disease and beta thalassemia. We applied a genome-wide association mapping strategy to individuals with contrasting extreme trait values and mapped a new F cell quantitative trait locus to BCL11A, which encodes a zinc-finger protein, on chromosome 2p15. The 2p15 BCL11A quantitative trait locus accounts for 15.1% of the trait variance.

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Year:  2007        PMID： 17767159     DOI： 10.1038/ng2108

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  211 in total

Review 1.  Vasculopathy and pulmonary hypertension in sickle cell disease.

Authors:  Karin P Potoka; Mark T Gladwin
Journal:  Am J Physiol Lung Cell Mol Physiol       Date:  2014-11-14       Impact factor: 5.464

2.  Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin.

Authors:  Stefania Satta; Lucia Perseu; Paolo Moi; Isadora Asunis; Annalisa Cabriolu; Liliana Maccioni; Franca Rosa Demartis; Laura Manunza; Antonio Cao; Renzo Galanello
Journal:  Haematologica       Date:  2011-01-27       Impact factor: 9.941

3.  Beta-thalassemia: from genotype to phenotype.

Authors:  Fabrice Danjou; Franco Anni; Renzo Galanello
Journal:  Haematologica       Date:  2011-11       Impact factor: 9.941

4.  Genetic modifiers of β-thalassemia and clinical severity as assessed by age at first transfusion.

Authors:  Fabrice Danjou; Franco Anni; Lucia Perseu; Stefania Satta; Carlo Dessì; Maria Eliana Lai; Paolo Fortina; Marcella Devoto; Renzo Galanello
Journal:  Haematologica       Date:  2012-01-22       Impact factor: 9.941

5.  Contribution of β-globin cluster polymorphisms to raise fetal hemoglobin levels in normal adults.

Authors:  Latifa Jouini; Amina Bibi; Faida Ouali; Sondess Hadj Fredj; Fekria Ouennich; Hajer Siala; Taieb Messaoud; Slaheddine Fattoum
Journal:  Mol Biol Rep       Date:  2011-09-27       Impact factor: 2.316

6.  Transcriptional silencing of {gamma}-globin by BCL11A involves long-range interactions and cooperation with SOX6.

Authors:  Jian Xu; Vijay G Sankaran; Min Ni; Tobias F Menne; Rishi V Puram; Woojin Kim; Stuart H Orkin
Journal:  Genes Dev       Date:  2010-04-15       Impact factor: 11.361

Review 7.  Genetic modifiers of sickle cell disease.

Authors:  Martin H Steinberg; Paola Sebastiani
Journal:  Am J Hematol       Date:  2012-05-28       Impact factor: 10.047

Review 8.  Cell signaling pathways involved in drug-mediated fetal hemoglobin induction: Strategies to treat sickle cell disease.

Authors:  Betty S Pace; Li Liu; Biaoru Li; Levi H Makala
Journal:  Exp Biol Med (Maywood)       Date:  2015-08

Review 9.  Genetic treatment of a molecular disorder: gene therapy approaches to sickle cell disease.

Authors:  Megan D Hoban; Stuart H Orkin; Daniel E Bauer
Journal:  Blood       Date:  2016-01-12       Impact factor: 22.113

10.  A genetic score for the prediction of beta-thalassemia severity.

Authors:  Fabrice Danjou; Marcella Francavilla; Franco Anni; Stefania Satta; Franca-Rosa Demartis; Lucia Perseu; Matteo Manca; Maria Carla Sollaino; Laura Manunza; Elisabetta Mereu; Giuseppe Marceddu; Serge Pissard; Philippe Joly; Isabelle Thuret; Raffaella Origa; Joseph Borg; Gian Luca Forni; Antonio Piga; Maria Eliana Lai; Catherine Badens; Paolo Moi; Renzo Galanello
Journal:  Haematologica       Date:  2014-12-05       Impact factor: 9.941
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