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A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter

Abstract:

We describe a pathogenetic mechanism underlying a variant form of the inherited blood disorder α thalassemia. Association studies of affected individuals from Melanesia localized the disease trait to the telomeric region of human chromosome 16, which includes the α-globin gene cluster, but no molecular defects were detected by conventional approaches. After resequencing and using a combination of chromatin immunoprecipitation and expression analysis on a tiled oligonucleotide array, we identi...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1126/science.1126431

Authors


De Gobbi, M More by this author
Viprakasit, V More by this author
Hughes, JR More by this author
More by this author
Institution:
University of Oxford
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Publisher:
American Association for the Advancement of Science Publisher's website
Journal:
Science Journal website
Volume:
312
Issue:
5777
Pages:
1215-1217
Publication date:
2006
DOI:
EISSN:
1095-9203
ISSN:
0036-8075
URN:
uuid:7521207c-4dd6-4045-acb1-1fb7bdffd1aa
Source identifiers:
344434
Local pid:
pubs:344434

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