Limited contribution of interchromosomal gene conversion toNF1 gene mutation

[...]the pseudogenes could act as reservoirs of mutations, which might be crossed into the functionalNF1 gene by interchromosomal gene conversion. 5 Gene conversion, the non-reciprocal transfer of genetic information between two related sequences, has been recognised as a mutational mechanism for several human genes. 15-17 In all these cases, the conversions occurred between gene and pseudogene on the same chromosome. About 32% of all single base pair substitutions causing human genetic disease occur in CpG dinucleotides. 21 As CpGs of theNF1 coding region are subject to methylation, 22 these six C to T transitions are probably the result of spontaneous deamination of 5-methylcytosine rather than of interchromosomal gene conversion.