DNA methylation, or the covalent addition of a methyl group to cytosine within the context of
the CpG dinucleotide, has profound effects on the mammalian genome. These effects …

Unlike the genome, the epigenome can be modified and hence some epigenetic risk
markers have the potential to be reversed. Such modifications take place by means of drugs …

DNA methylation is a stable but not irreversible epigenetic signal that silences gene
expression. It has a variety of important functions in mammals, including control of gene …

Abstract The modified base, 5-methylcytosine, constitutes approximately 1% of human DNA,
but sites containing 5-methylcytoslne account for at least 30% of all germline and somatic …

The human eye malformation aniridia results from haploinsufficiency of PAX6, a paired box
DNA–binding protein. To study this dosage effect, we characterized two PAX6 mutations in a …

Genomic DNA from 154 unrelated individuals with achondroplasia was evaluated for
mutations in the fibroblast growth factor receptor 3 (FGFR3) transmembrane domain. All but …

Aniridia is a semidominant disorder in which development of the iris, lens, cornea and retina
is disturbed. The mouse mutation Small eye (Sey), which has been proposed as a model for …

Direct genomic sequencing revealed that cytosine residues known to have undergone a
germ-line mutation in the low density lipoprotein receptor gene or somatic mutations in the …

The sterol storage disorder cerebrotendinous xanthomatosis (CTX) is characterized by
abnormal deposition of cholesterol and cholestanol in multiple tissues. Deposition in the …

In addition to its well-documented effects on gene silencing, cytosine methylation is a
prominent cause of mutations. In humans, the mutation rate from 5-methylcytosine (m5C) to …