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

Science

Volumn 312, Issue 5777, 2006, Pages 1215-1217

  De Gobbi, Marco ^a   Viprakasit, Vip ^b   Hughes, Jim R ^a   Fisher, Chris ^a   Buckle, Veronica J ^a   Ayyub, Helena ^a   Gibbons, Richard J ^a   Vernimmen, Douglas ^a   Yoshinaga, Yuko ^c   De Jong, Pieter ^c   Cheng, Jan Fang ^d   Rubin, Edward M ^d   Wood, William G ^a   Bowden, Don ^e   Higgs, Douglas R ^a  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^b MAHIDOL UNIVERSITY   (Thailand)

^c CHILDREN S HOSPITAL OAKLAND RESEARCH INSTITUTE   (United States)

^d LAWRENCE BERKELEY NATIONAL LABORATORY   (United States)

^e MONASH UNIVERSITY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD; GENES; GENETIC ENGINEERING; MOLECULAR BIOLOGY; NUCLEIC ACIDS; PATHOLOGY; REACTION KINETICS;

GENE CLUSTERS; GENETIC DISEASES; MOLECULAR DEFECTS; OLIGONUCLEOTIDE ARRAY;

DISEASE CONTROL;

CHROMOSOME; DISEASE; GENETIC ANALYSIS;

ALPHA GLOBIN GENE; ALPHA THALASSEMIA; ARTICLE; CHROMATIN IMMUNOPRECIPITATION; CHROMOSOME 16; CONTROLLED STUDY; GENE; GENE CLUSTER; GENE EXPRESSION; HUMAN; MELANESIA; PATHOGENESIS; PRIORITY JOURNAL; PROMOTER REGION; REGULATORY DNA SEQUENCE; SINGLE NUCLEOTIDE POLYMORPHISM; TELOMERE;

ALPHA-THALASSEMIA; BINDING SITES; CELLS, CULTURED; CHROMATIN IMMUNOPRECIPITATION; CHROMOSOMES, HUMAN, PAIR 16; ERYTHROBLASTS; GATA1 TRANSCRIPTION FACTOR; GENE EXPRESSION; GENE EXPRESSION PROFILING; GLOBINS; HAPLOTYPES; HUMANS; MELANESIA; MINISATELLITE REPEATS; MULTIGENE FAMILY; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS (GENETICS); REGULATORY ELEMENTS, TRANSCRIPTIONAL; TRANSCRIPTION, GENETIC;

EID: 33744475085     PISSN: 00368075     EISSN: 10959203     Source Type: Journal    
DOI: 10.1126/science.1126431     Document Type: Article

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18. M.D.G. is a Ph.D. student in Pharmacology and Experimental and Clinical Therapy at the University of Turin, Italy. We thank J. Sloane Stanley, J. Sharpe, J. Green, J. Brown, N. Ventress, K. Clark, and the Oxford Computational Biology Research Group for technical support. V.V. is supported by the Thailand Research Fund.