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The 5′ regulatory region of the human fetal globin genes is a gene conversion hotspot

dc.creatorKalamaras, A.en
dc.creatorChassanidis, C.en
dc.creatorSamara, M.en
dc.creatorChiotoglou, I.en
dc.creatorVamvakopoulos, N. K.en
dc.creatorPapadakis, M. N.en
dc.creatorKollia, P.en
dc.creatorPatrinos, G. P.en
dc.date.accessioned2015-11-23T10:30:59Z
dc.date.available2015-11-23T10:30:59Z
dc.date.issued2008
dc.identifier10.1080/03630260802507824
dc.identifier.issn3630269
dc.identifier.urihttp://hdl.handle.net/11615/28751
dc.description.abstractThe human fetal globin genes consist of the first mammalian genomic loci for which gene conversion was reported. To date, 14 gene conversions have been described in the human Gγ- and Aγ-globin genes, the vast majority of which are restricted to the coding sequences. Here, we provide evidence for three new gene conversion events in the 5′ regulatory region of the human fetal globin genes, identified during a large genetic screening effort in adult individuals with high fetal hemoglobin (Hb) levels. The sequence variations, resulting from these conversion events, are transcriptionally silent polymorphisms that do not contribute to increased fetal Hb levels. Our results suggest that the 5′ regulatory region of the human fetal globin genes is a gene conversion hotspot that prevent globin gene promoter sequence diversification, further underlining the need for two functional fetal globin genes in fetal erythropoiesis. Copyright © Informa Healthcare USA, Inc.en
dc.source.urihttp://www.scopus.com/inward/record.url?eid=2-s2.0-57449085988&partnerID=40&md5=5bc98cf61f2803c9b6dbbe4faaf728f1
dc.subjectAγ-Globin geneen
dc.subjectGγ-Globin geneen
dc.subjectFetal globin genesen
dc.subjectFetal hemoglobin (Hb)en
dc.subjectGene conversionen
dc.subjectSequence homogenizationen
dc.subjectSequence variationsen
dc.subjectgamma globinen
dc.subjecthemoglobin Fen
dc.subjectadulten
dc.subjectarticleen
dc.subjectcontrolled studyen
dc.subjectgene sequenceen
dc.subjectgenetic polymorphismen
dc.subjectgenetic screeningen
dc.subjectgenetic transcriptionen
dc.subjectgenotypeen
dc.subjectglobin geneen
dc.subjecthemoglobin blood levelen
dc.subjecthumanen
dc.subjectnucleotide sequenceen
dc.subjectgene expression regulationen
dc.subjectgeneticsen
dc.subjectGreeceen
dc.subjectmolecular geneticsen
dc.subjectmutationen
dc.subjectregulatory sequenceen
dc.subjectMammaliaen
dc.subjectBase Sequenceen
dc.subjectFetal Hemoglobinen
dc.subjectGene Expression Regulation, Developmentalen
dc.subjectHumansen
dc.subjectMolecular Sequence Dataen
dc.subjectRegulatory Sequences, Nucleic Aciden
dc.titleThe 5′ regulatory region of the human fetal globin genes is a gene conversion hotspoten
dc.typejournalArticleen


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