The CpG dinucleotide and human genetic disease

By David N. Cooper, H. Youssoufian. 1988

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Citations in the corpus

DNA methylation: a historical perspective. (2022, unknown): “Given that the cost of 5mC in the genome is a slow erosion of CpGs with potentially deleterious consequences for germline mutation, tolerance of these negative effects further supported the likely functional importance of 5mC in the genomes of vertebrates [282,285].”
DNA replication stress as a hallmark of cancer. (2015, background): “Because cytosines are often methylated in the context of CpGs, the mutations probably arise by spontaneous deamination of a methylated cytosine to a thymine (143).”
Mechanisms of DNA damage, repair and mutagenesis (2017, unknown): “Consequently, the GC $ AT transition at the CpG sequences accounts for one-third of the single site mutations responsible for hereditary diseases in humans [Cooper and Youssoufian, 1988; De Bont and van Larebeke, 2004].”
Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. (2004, background): “Genetically modifiedtion of CpG to TpG, the most common mechanism for mice harboring G406R may address mechanistic ques-mutations (Cooper and Youssoufian, 1988; Vitkup et al., tions raised by these findings.2003).”
The amino-acid mutational spectrum of human genetic disease (2003, background): “fo rm atio n 5'-CpG dinucleotides in Arg codons) [16,17], the relatively high frequency of Arg in human proteins (<4%), and the fact that Arg mutates to residues with very different chemical properties (cysteine (Cys), glycine (Gly), histidine (His), lysine (Lys), leucine (Leu), methionine (Met), pr”
Functionality or transcriptional noise? Evidence for selection within long noncoding RNAs. (2007, background): “We considered whether these departures of dRNA/dAR from unity might be causally related to the known high rate of substitutions in CpG dinucleotides (Cooper and Youssoufian 1988; Sved and Bird 1990) if, for example, CpG dinucleotides are, on average, more frequent in ARs than they are in macroRNAs.”