In:
British Journal of Haematology, Wiley, Vol. 175, No. 3 ( 2016-11), p. 525-530
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, ASH 1L 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 ASH 1L (Trithorax protein) in the regulation of globin genes.
Type of Medium:
Online Resource
ISSN:
0007-1048
,
1365-2141
DOI:
10.1111/bjh.2016.175.issue-3
Language:
English
Publisher:
Wiley
Publication Date:
2016
detail.hit.zdb_id:
80077-6
detail.hit.zdb_id:
1475751-5
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