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

De Gobbi, M; Viprakasit, V; Hughes, JR; Fisher, C; Buckle, VJ; Ayyub, H; Gibbons, RJ; Vernimmen, D; Yoshinaga, Y; de Jong, P; Cheng, JF; Rubin, EM; Wood, WG; Bowden, D; Higgs, DR

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

Email

Email this record

Send the bibliographic details of this record to your email address.

Your Email
Please enter the email address that the record information will be sent to.

Your message (optional)
Please add any additional information to be included within the email.
Cite

Cite this record

APA Style

De Gobbi, M., Viprakasit, V., Hughes, J. R., Fisher, C., Buckle, V. J., Ayyub, H., Gibbons, R. J., Vernimmen, D., Yoshinaga, Y., de Jong, P., Cheng, J. F., Rubin, E. M., Wood, W. G., Bowden, D., & Higgs, D. R. (2006). A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter. Science (New York, N.Y.), 312(5777), 1215–1217.

MLA Style

De Gobbi, M., et al. “A Regulatory SNP Causes a Human Genetic Disease by Creating a New Transcriptional Promoter.” Science (New York, N.Y.), vol. 312, no. 5777, Science (New York, N.Y.), 2006, pp. 1215–17.

Chicago Style

De Gobbi, M, V Viprakasit, JR Hughes, C Fisher, VJ Buckle, H Ayyub, RJ Gibbons, et al. 2006. “A Regulatory SNP Causes a Human Genetic Disease by Creating a New Transcriptional Promoter.” Science (New York, N.Y.) 312 (5777): 1215–17.
Tweet
Print