Frequency of abnormal human haemoglobins caused by C----T transitions in CpG dinucleotides

Biophys Chem. 1990 Aug 31;37(1-3):25-9. doi: 10.1016/0301-4622(90)88004-c.

Abstract

A large part of human genetic disease apparently arises from deamination of cytosines in methylated CpG dinucleotides. Their mutation rate is known to be high when C is present as 5-methylcytosine, but is believed to be normal when it is unmethylated. The beta-globin gene contains five, the gamma-globin gene two, and each of the alpha-globin genes contain 35 CpGs. The CpGs in the beta- and gamma-globin genes are methylated, while those in the alpha-globin genes are undermethylated. One would therefore have expected the CpGs to be a frequent source of mutations in the beta- and gamma-globin genes, but not in the alpha-globin genes. In fact, the evidence points to CpGs being a frequent source of mutations in both the alpha- and beta-globin genes. This suggests either that the mutation rates of both methylated and unmethylated CpGs are abnormally high, which conflicts with published evidence, or that there is a finite chance of some CpGs in the alpha-globin genes of certain individuals being methylated and therefore subject to mutation.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Base Sequence
  • Codon / genetics
  • Cytosine*
  • Dinucleoside Phosphates / genetics*
  • Globins / genetics*
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Molecular Sequence Data
  • RNA, Messenger / genetics
  • Thymine*

Substances

  • Codon
  • Dinucleoside Phosphates
  • Hemoglobins, Abnormal
  • RNA, Messenger
  • cytidylyl-3'-5'-guanosine
  • Cytosine
  • Globins
  • Thymine