Article
Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles.
American journal of human genetics - 2 Aug 2018
Coban-Akdemir Zeynep, White Janson J, Song Xiaofei, Jhangiani Shalini N, Fatih Jawid M, Gambin Tomasz, Bayram Yavuz, Chinn Ivan K, Karaca Ender, Punetha Jaya, Poli Cecilia, Boerwinkle Eric, Shaw Chad A, Orange Jordan S, Gibbs Richard A, Lappalainen Tuuli, Lupski James R, Carvalho Claudia M B
Abstract excerpt
Premature termination codon (PTC)-bearing transcripts are often degraded by nonsense-mediated decay (NMD) resulting in loss-of-function (LoF) alleles. However, not all PTCs result in LoF mutations, i.e., some such transcripts escape NMD and are translated to truncated peptide products that result in disease due to gain-of-function (GoF) effects. Since the location of the PTC is a major factor determining...
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