The detailed entries of the Imprinted Gene Catalogue database were created by Benjamin Tycko, Columbia University, New York and are updated by Ian Morison


Detailed entry for Gene:



Human Chr7q32
Mouse Chr6 (proximal; but distal to Sgce)




The maternal allele of Mest/Peg1 is repressed; paternal allele active in mice, sheep and humans (Cuisset L et al, 1997; Feil R et al, 1998; Kaneko-Ishino T et al, 1995; Kobayashi S et al, 1997; Riesewijk AM et al, 1997). There is strong expression and functional imprinting in many fetal tissues; the imprint persists in adult tissues, but expression declines.
In human there is a paternally expressed antisence transcript (MESTIT1) (Li T et al, 2002; Nakabayashi K et al, 2002).

Gene Product:

Paternally expressed gene-1/mesoderm-specific transcript; encodes a putative hydrolase enzyme, expressed in mesodermal tissues (Kaneko-Ishino T et al, 1995).
The MESTIT1 (PEG1-AS) is a non-coding RNA.

Functional Data:

Sequence similarity to epoxide hydrolases of bacteria and plants, but no direct biochemical studies (Kaneko-Ishino T et al, 1995). Paternal transmission of a knockout allele in mice caused embryonic growth retardation, associated with reduced postnatal survival rates in the mutant progeny (Lefebvre L et al, 1998). Mest-deficient females show abnormal maternal behaviour (deficient nest building and pup retrieval, and impaired placentophagia) (Lefebvre L et al, 1998). Early embryonic lethality is observed in mice with maternal duplication/paternal deletion for proximal chromosome 6. Peg1/Mest may be ruled out as a Silver-Russell syndrome gene since it is normal in sequence and DNA methylation in non-UPD cases of this syndrome (Riesewijk AM et al, 1998). Loss of imprinting of PEG1/MEST has been reported in human breast cancers (Pedersen IS et al, 1999).


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