The rates of G:C--T:A and G:C--C:G transversions at CpG dinucleotides in the human factor IX gene

T:A and G:C-->C:G) possess similar mutation rates (24.8 x 10(-10) and 20.6 x 10(-10), respectively), which are about fivefold greater than the comparable rates for transversions at non-CpG dinucleotides. The enhancement of transversions at CpG suggests 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. -->
ISSN: 0002-9297
Přístupová URL adresa: https://explore.openaire.eu/search/publication?articleId=pmid________::a8faae88d8a8196583b1d0628f1a1dfb
https://pubmed.ncbi.nlm.nih.gov/8178822
Rights: OPEN
Přírůstkové číslo: edsair.pmid..........a8faae88d8a8196583b1d0628f1a1dfb
Autor: R P, Ketterling, E, Vielhaber, S S, Sommer
Rok vydání: 1994
Předmět:
Zdroj: American journal of human genetics. 54(5)
ISSN: 0002-9297
Popis: We 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 our sample, yet the expected frequency of CpG transversions at random in the factor IX gene is only 2.6% (P < .01). The aggregate data suggest that the two types of CpG transversions (G:C-->T:A and G:C-->C:G) possess similar mutation rates (24.8 x 10(-10) and 20.6 x 10(-10), respectively), which are about fivefold greater than the comparable rates for transversions at non-CpG dinucleotides. The enhancement of transversions at CpG suggests 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.
Databáze: OpenAIRE
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