Sunday 23 November 2003
The H19 differentially methylated region (DMR) controls the allele-specific expression of both the imprinted H19 tumor-suppressor gene and the IGF2 growth factor.
Hypermethylation of this DMR, and subsequently of the H19 promoter region, is a major cause of the clinical features of gigantism and/or asymmetry seen in Beckwith-Wiedemann syndrome or in isolated hemihypertrophy.
H19 hypermethylation and deletions in the H19 differentially methylated region (DMR) in Beckwith-Wiedemann syndrome (BWS) (MIM.130650)
H19 hypomethylation in Silver-Russell syndrome (SRS) and isolated asymmetry or SRS-like phenotype (#16532391#)
Arney KL. H19 and Igf2—enhancing the confusion? Trends Genet. 2003 Jan;19(1):17-23. PMID: #12493244#
Hurst LD, Smith NG. Molecular evolutionary evidence that H19 mRNA is functional. Trends Genet. 1999 Apr;15(4):134-5. PMID: #10203817#