1997/12/01 by Marisa S. Bartolomei, Shirley M. Tilghman · 11 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Genetic Syndromes and Imprinting #Epigenetics and DNA Methylation #Prenatal Screening and Diagnostics
paper · doi:10.1146/annurev.genet.31.1.493
openalex publication_date 1997/12/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/15
A handful of autosomal genes in the mammalian genome are inherited in a silent state from one of the two parents, and in a fully active form from the other, thereby rendering the organism functionally hemizygous for imprinted genes. To date 19 imprinted genes have been identified; 5 are expressed from the maternal chromosome while the rest are expressed from the paternal chromosome. Allele-specific methylation of CpG residues, established in one of the germlines and maintained throughout embryogenesis, has been clearly implicated in the maintenance of imprinting in somatic cells. Although the function of imprinting remains a subject of some debate, the process is thought to have an important role in regulating the rate of fetal growth.