The rates of G:C[yields]T:A and G:C[yields]C:G transversions at CpG dinucleotides in the human factor IX gene
- Mayo Clinic/Foundation, Rochester, MN (United States)
The authors have identified eight independent transversions at CpG in 290 consecutive families with hemophilia B. These eight transversions account for 16.3% of all independent transversions in the sample, yet the expected frequency of CpG transversions at random in the factor IX gene is only 2.6% (P<0.1). The aggregate data suggest that the two types of CpG transversions (G:C[yields]T:A and G:C[yields]C:G) possess similar mutation rates (24.8 [times] 10[sup [minus]10] and 20.6 [times] 10[sup [minus]10], respectively), which are about fivefold greater than the comparable rates for transversions at non-CpG dinucleotides. The enhancement of transversions at CpG suggest that the model by which mutations occur at CpG may need to be reevaluated. The relationship, if any, between deamination of 5-methyl cytosine and enhancement of transversions at CpG remains to be defined. 28 refs., 2 tabs.
- OSTI ID:
- 6975354
- Journal Information:
- American Journal of Human Genetics; (United States), Vol. 54:5; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
Similar Records
Molecular analysis of triosephosphate isomerase mutants with reduced enzyme activity in humans and mice
Targeting specificity of APOBEC-based cytosine base editor in human iPSCs determined by whole genome sequencing