Journal article icon

Journal article

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 alpha thalassemia. Association studies of affected individuals from Melanesia localized the disease trait to the telomeric region of human chromosome 16, which includes the alpha-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, w...

Expand abstract
Publication status:
Published

Actions


Access Document


Publisher copy:
10.1126/science.1126431

Authors


De Gobbi, M More by this author
Viprakasit, V More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, RDM, Molecular Medicine
Buckle, VJ More by this author
Expand authors...
Journal:
Science (New York, N.Y.)
Volume:
312
Issue:
5777
Pages:
1215-1217
Publication date:
2006-05-05
DOI:
EISSN:
1095-9203
ISSN:
0036-8075
URN:
uuid:8d9dda62-8f17-4d34-8c77-8bf28fc37ae5
Source identifiers:
124747
Local pid:
pubs:124747

Terms of use


Metrics



If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP