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Article

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

Journal of molecular biology - 20 May 1990

Perutz M F

Abstract excerpt

A large part of human genetic disease apparently arises from deamination of cytosine residues in methylated CpG dinucleotides. Their mutation rate is known to be high when C is present as 5-methyl-cytosine, 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 contains 35 CpG dinucleotides. The CpG dinucleotides in...

Topics

Base Sequence
Dinucleoside Phosphates
Globins
Hemoglobins
Humans
Methylation
Mutation

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 2342101
DOI: 10.1016/S0022-2836(05)80178-0

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2342101-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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