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

Amandine Breton, Andria Theodorou, Suleyman Aktuna, Laura Sonzogni, David Darling, Lucas Chan, Stephan Menzel, Peter J. van der Spek, Sigrid M A Swagemakers, Frank Grosveld, Sjaak Philipsen, Swee Lay Thein*

*Corresponding author for this work

    Research output: Contribution to journalArticlepeer-review

    7 Citations (Scopus)

    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.

    Original languageEnglish
    JournalBritish Journal of Haematology
    Early online date19 Jul 2016
    DOIs
    Publication statusE-pub ahead of print - 19 Jul 2016

    Keywords

    • ASH1L
    • Beta-thalassaemia
    • Trithorax protein

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