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;
Philipsen, Sjaak;
Thein, Swee Lay
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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Medientyp:
E-Artikel
Titel:
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
Beteiligte:
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;
Philipsen, Sjaak;
Thein, Swee Lay
Beschreibung:
<jats:p>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, <jats:italic><jats:styled-content style="fixed-case">ASH</jats:styled-content>1L</jats:italic> was proposed as causative through functional <jats:styled-content style="fixed-case">mRNA</jats:styled-content> knock‐down and chromatin‐immunoprecipitation studies in human erythroid progenitor cells. Our data suggest a putative role for <jats:styled-content style="fixed-case">ASH</jats:styled-content>1L (Trithorax protein) in the regulation of globin genes.</jats:p>