Abstract:
:To date, all of the chromosomal deletions that cause alpha-thalassemia remove the structural alpha genes and/or their regulatory element (HS -40). A unique deletion occurs in a single family that juxtaposes a region that normally lies approximately 18-kilobase downstream of the human alpha cluster, next to a structurally normal alpha-globin gene, and silences its expression. During development, the CpG island associated with the alpha-globin promoter in the rearranged chromosome becomes densely methylated and insensitive to endonucleases, demonstrating that the normal chromatin structure around the alpha-globin gene is perturbed by this mutation and that the gene is inactivated by a negative chromosomal position effect. These findings highlight the importance of the chromosomal environment in regulating globin gene expression.
journal_name
Bloodjournal_title
Bloodauthors
Barbour VM,Tufarelli C,Sharpe JA,Smith ZE,Ayyub H,Heinlein CA,Sloane-Stanley J,Indrak K,Wood WG,Higgs DRsubject
Has Abstractpub_date
2000-08-01 00:00:00pages
800-7issue
3eissn
0006-4971issn
1528-0020journal_volume
96pub_type
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