Gene variants in noncoding regions and their possible consequences.
Human biodiversity or individual traits are not well explained by exonic mutations of all 20,000 known human genes. Accumulating evidence has demonstrated that not all noncoding regions are junk DNA sequences, and that some functionally important noncoding variants contribute significantly to altered gene expression, qualitatively or quantitatively. Thus, functional profiling or clinical relevance of noncoding variations should not be underestimated or ignored. To validate these concepts, some important examples are discussed further in this short review.
Wang
Guang-Ji
GJ
China Pharmaceutical University, Key Laboratory of Drug Metabolism and Pharmacokinetics, 1 Shennong Road, Nanjing, Jiangsu 210038, People's Republic of China.
Yang
Ping
P
Xie
Hong-Guang
HG
D020121:5' Untranslated Regions / Q000235:genetics; D000818:Animals; D001665:Binding Sites; D002986:Clinical Trials as Topic; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D016366:Open Reading Frames / Q000235:genetics; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics; D020506:Untranslated Regions / Q000235:genetics*
D020121:5' Untranslated Regions; D018160:Receptors, Cytoplasmic and Nuclear; D020506:Untranslated Regions