Analysis of sequence variation underlying tissue-specific transcription factor binding and gene expression.

Journal article

Although mutations causing monogenic disorders most frequently lie within the affected gene, sequence variation in complex disorders is more commonly found in noncoding regions. Furthermore, recent genome- wide studies have shown that common DNA sequence variants in noncoding regions are associated with "normal" variation in gene expression resulting in cell-specific and/or allele-specific differences. The mechanism by which such sequence variation causes changes in gene expression is largely...

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Authors: Lower, K; De Gobbi, M; Hughes, J; Derry, C; Ayyub, H

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: Wiley Publisher's website
• Journal: Human mutation Journal website
• Volume: 34
• Issue: 8
• Pages: 1140-1148
• Publication date: 2013-08-01
• DOI: 10.1002/humu.22343
• EISSN: 1098-1004
• ISSN: 1059-7794
• Language: English
• Keywords: Binding Sites; Humans; Erythroid Cells; Nucleoside Diphosphate Kinase D; Genetic Variation; Protein Binding; Base Sequence; Molecular Sequence Data; Polymorphism, Single Nucleotide; Regulatory Sequences, Nucleic Acid; Genome-Wide Association Study; Gene Expression; Transcription Factors; Intracellular Signaling Peptides and Proteins