Taxon:

Human

Gene:

MEST (PEG1)

Chromosome:

07

Location:

7q32.2 (129.9 Mb Build 36.1)

Description:

MEST (Mesoderm-specific transcript / Paternally expressed gene 1, member of the alpha/beta hydroxylase fold family) is paternally expressed in human fetal tissues (Kobayashi S et al, 1997). There are two splice variants and initially only one (isoform 1) was shown to be imprinted (Kosaki K et al, 2000). Subsequently, preferential expression of the paternal allele of isoform 2 has been demonstrated in fetal kidney and placenta, but not in 11 other fetal tissues (Nakabayashi K et al, 2002). McMinn J et al, 2006 also showed preferential expression of the paternal allele of isoform 2 in 10 out of 26 placentae, suggesting polymorphic imprinting. MEST (?isoform 2) is biallelically expressed in adult blood (Riesewijk AM et al, 1997) and in breast cancer (Pedersen IS et al, 1999; Pedersen IS et al, 2002).
A maternally methylated germline DMR (reported in mouse) is located in the promoter of MEST (chr7:129917976-129920347 NCBI build 36.1)(Lucifero D et al, 2002).
See also MESTIT1 (MEST intronic transcript 1, PEG1-AS)
A separate transcript (MEST 3'UTR) that extends from the 3' end of MEST probably forms one of the COPG2 antisense transcripts (Yamasaki K et al, 2000).
In a study of 10 heterozygous in vitro-derived human preimplantation embryos, seven showed paternal expression, two showed preferential paternal expression and one was biallelic. Further analysis of 61 preimplantation embryos showed eight embryos with bialleic expression consistent with polymorphic imprinting. The authors provided evidence that polymorphic imprinting at MEST locus is attributable to isoform 2 (Huntriss JD et al, 2013).
Baran Y et al (2015) found evidence of imprinting of MEST (using RNA-seq) in multiple adult tissues (subcutaneous adipose, visceral adipose, tibial artery, mammary tissue, lung, tibial nerve and fibroblasts). Allelic expression of MEST in other tissues was also consistent with imprinting (EBV-transformed lymphocytes, pituitary, skeletal muscle, sun exposed skin, brain, uterus, aorta, left ventricle, atrial appendage, cortex of kidney and not sun exposed skin).

Category:

Imprinted genes

Record:

18

Last Modified 8/3/2017

Links:

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