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. (19th July 2016)

• Record Type: Journal Article
• 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; Philipsen, Sjaak; Thein, Swee Lay
• Is Part Of: British journal of haematology. Volume 175:Number 3(2016)
• Page Start: 525
• Page End: 530
• Publication Date: 2016-07-19
• Subjects: ASH1L -- Trithorax protein -- beta‐thalassaemia; Hematology -- Periodicals; Blood -- Diseases -- Periodicals; 616.15
• DOI: 10.1111/bjh.14256
• Languages: English
• ISSNs: 0007-1048

Abstract

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.