. ASH1L (a histone methyltransferase protein) is a novel candidate globin gene regulator revealed by genetic study of an English family with beta-thalassaemia unlinked to the beta-globin locus
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Authors
Breton, Amandine
Theodorou, Andria
Aktuna, Suleyman
Sonzogni, Laura
Darling, David
Chan, Lucas
Menzel, Stephan
van der Spek, Peter J.
Swagemakers, Sigrid M.A.
Grosveld, Frank
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Issue Date
2016
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Article
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Abstract
In 1993, we described an English family with beta-thalassaemia that was not linked to the beta-globin locus. Whole genome sequence analyses revealed potential causative mutations in 15 different genes, of which 4 were consistently and uniquely associated with the phenotype in all 7 affected family members, also confirmed by genetic linkage analysis. Of the 4 genes, which are present in a centromeric region of chromosome 1, ASH1L was proposed as causative through functional mRNA knock-down and chromatin-immunoprecipitation studies in human erythroid progenitor cells. Our data suggest a putative role for ASH1L (Trithorax protein) in the regulation of globin genes.
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British Journal of Haematology
Volume
175
Issue
3