Taxon:

Human

Gene:

DNMT1

Chromosome:

19

Location:

19p13.2

Description:

Monoallelic methylation of the promoter of the somatic (long) isoform of DNMT1 (DNA (cytosine-5-)-methyltransferase 1) has been repeatedly detected in human placentas (Yuen RK et al, 2011; Novakovic B et al, 2010; Das R et al, 2013).
Das R et al (2013) used bisulphite sequencing to confirm allele-specific methylation (mostly) in three placentas and in one case the methylated allele was found to be maternal (Figure 3). Oocytes show methylation and sperm do not show methylation at this promoter (Okae H et al, 2014). Using triploid and molar placentas Yuen RK et al (2011) showed results consistent with maternal methylation. Previously Novakovic B et al (2010) detected examples of both methylated and unmethylated maternal and paternal alleles in several heterozygous samples and concluded that DNMT1 was not imprinted, but in a subsequent publication refer to DNMT1 as being imprinted (Novakovic B & Saffery R, 2013).
Das R et al (2013) reported monoallelic expression in all 8 informative placentas and paternal expression confirmed in all 4 informative cases. Yuen RK et al (2011) showed monoallelic paternal in one informative case.

Category:

Imprinted genes

Record:

1377

Last Modified 3/3/2015

Links:

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