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DC Field | Value | Language |
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dc.contributor.author | Borg, Joseph J. | - |
dc.contributor.author | Papadopoulos, Petros | - |
dc.contributor.author | Georgitsi, Marianthi | - |
dc.contributor.author | Gutierrez, Laura | - |
dc.contributor.author | Grech, Godfrey | - |
dc.contributor.author | Fanis, Pavlos | - |
dc.contributor.author | Phylactides, Marios | - |
dc.contributor.author | Verkerk, Annemieke J.M.H. | - |
dc.contributor.author | van der Spek, Peter J. | - |
dc.contributor.author | Scerri, Christian A. | - |
dc.contributor.author | Cassar, Wilhelmina | - |
dc.contributor.author | Galdies, Ruth | - |
dc.contributor.author | van IJcken, Wilfred | - |
dc.contributor.author | Ozgur, Zeliha | - |
dc.contributor.author | Gillemans, Nynke | - |
dc.contributor.author | Hou, Jun | - |
dc.contributor.author | Bugeja, Marisa | - |
dc.contributor.author | Grosveld, Frank G. | - |
dc.contributor.author | von Lindern, Marieke | - |
dc.contributor.author | Felice, Alex | - |
dc.contributor.author | Patrinos, George P. | - |
dc.contributor.author | Philipsen, Sjaak | - |
dc.date.accessioned | 2017-06-19T08:17:55Z | - |
dc.date.available | 2017-06-19T08:17:55Z | - |
dc.date.issued | 2010 | - |
dc.identifier.citation | Borg, J., Papadopoulos, P.,Georgitsi, M.,Guitierrez, L., Grech, G., Fanis, P.,...Philipsen, S. (2010). Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin. Nature Genetics, 42(9), 801-807. | en_GB |
dc.identifier.uri | https://www.um.edu.mt/library/oar//handle/123456789/19966 | - |
dc.description.abstract | Hereditary persistence of fetal hemoglobin (HPFH) is characterized by persistent high levels of fetal hemoglobin (HbF) in adults. Several contributory factors, both genetic and environmental, have been identified but others remain elusive. HPFH was found in 10 of 27 members from a Maltese family. We used a genome-wide SNP scan followed by linkage analysis to identify a candidate region on chromosome 19p13.12–13. Sequencing revealed a nonsense mutation in the KLF1 gene, p.K288X, which ablated the DNA-binding domain of this key erythroid transcriptional regulator2. Only family members with HPFH were heterozygous carriers of this mutation. Expression profiling on primary erythroid progenitors showed that KLF1 target genes were downregulated in samples from individuals with HPFH. Functional assays suggested that, in addition to its established role in regulating adult globin expression, KLF1 is a key activator of the BCL11A gene, which encodes a suppressor of HbF expression3. These observations provide a rationale for the effects of KLF1 haploinsufficiency on HbF levels. | en_GB |
dc.language.iso | en | en_GB |
dc.rights | info:eu-repo/semantics/openAccess | en_GB |
dc.subject | Genetics -- Malta -- Case studies | en_GB |
dc.subject | Hemoglobins, Abnormal -- Genetics | en_GB |
dc.title | Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin | en_GB |
dc.type | article | en_GB |
dc.rights.holder | The copyright of this work belongs to the author(s)/publisher. The rights of this work are as defined by the appropriate Copyright Legislation or as modified by any successive legislation. Users may access this work and can make use of the information contained in accordance with the Copyright Legislation provided that the author must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the prior permission of the copyright holder. | en_GB |
dc.description.reviewed | peer-reviewed | en_GB |
dc.identifier.doi | 10.1038/ng.630 | - |
Appears in Collections: | Melitensia Works - ERCSciNHB Scholarly Works - FacHScABS |
Files in This Item:
File | Description | Size | Format | |
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Haploinsufficiency for the erythroid transcription factor KLF1.pdf | 919.01 kB | Adobe PDF | View/Open |
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