MEST is highly expressed during embryonic development, particularly in mesoderm-derived tissues, and is implicated in the regulation of fetal growth and differentiation. It is also expressed in the placenta, where it is thought to contribute to nutrient exchange and the establishment of normal growth trajectories.
Clinical significance
The loss of imprinting of this gene has been linked to certain types of cancer and may be due to promoter switching.
In humans, dysregulation of paternal MEST imprinting has been linked to imprinting disorders such as Silver-Russel syndrome, supporting its role in epigenetic control of growth and development.
Animal studies
In animal models, Disruption of MEST expression has been associated with growth abnormalities, including reduced fetal growth and altered adipose development.
↑"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑Nishita Y, Yoshida I, Sado T, Takagi N (February 1997). "Genomic imprinting and chromosomal localization of the human MEST gene". Genomics. 36 (3): 539–542. doi:10.1006/geno.1996.0502. PMID8884280.
12Lefebvre L, Viville S, Barton SC, Ishino F, Keverne EB, Surani MA (October 1998). "Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest". Nature Genetics. 20 (2): 163–169. doi:10.1038/2464. PMID9771709.
↑Mayer W, Hemberger M, Frank HG, Grümmer R, Winterhager E, Kaufmann P, etal. (January 2000). "Expression of the imprinted genes MEST/Mest in human and murine placenta suggests a role in angiogenesis". Developmental Dynamics. 217 (1): 1–10. doi:10.1002/(SICI)1097-0177(200001)217:1<1::AID-DVDY1>3.0.CO;2-4. PMID10679925.
↑Eggermann T, Spengler S, Begemann M, Binder G, Buiting K, Albrecht B, etal. (March 2012). "Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver-Russell syndrome features". Clinical Genetics. 81 (3): 298–300. doi:10.1111/j.1399-0004.2011.01719.x. PMID22211632.
Riesewijk AM, Hu L, Schulz U, Tariverdian G, Höglund P, Kere J, etal. (June 1997). "Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses". Genomics. 42 (2): 236–244. doi:10.1006/geno.1997.4731. hdl:2066/24440. PMID9192843. S2CID24034813.
Cuisset L, Le Stunff C, Dupont JM, Vasseur C, Cartigny M, Despert F, etal. (1997). "PEG1 expression in maternal uniparental disomy 7". Annales de Genetique. 40 (4): 211–215. PMID9526615.
Pedersen IS, Dervan PA, Broderick D, Harrison M, Miller N, Delany E, etal. (November 1999). "Frequent loss of imprinting of PEG1/MEST in invasive breast cancer". Cancer Research. 59 (21): 5449–5451. PMID10554015.
Hayashida S, Yamasaki K, Asada Y, Soeda E, Niikawa N, Kishino T (June 2000). "Construction of a physical and transcript map flanking the imprinted MEST/PEG1 region at 7q32". Genomics. 66 (2): 221–225. doi:10.1006/geno.2000.6206. PMID10860668.
Kohda M, Hoshiya H, Katoh M, Tanaka I, Masuda R, Takemura T, etal. (August 2001). "Frequent loss of imprinting of IGF2 and MEST in lung adenocarcinoma". Molecular Carcinogenesis. 31 (4): 184–191. doi:10.1002/mc.1053. PMID11536368. S2CID46249386.
Miozzo M, Grati FR, Bulfamante G, Rossella F, Cribiù M, Radaelli T, etal. (November 2001). "Post-zygotic origin of complete maternal chromosome 7 isodisomy and consequent loss of placental PEG1/MEST expression". Placenta. 22 (10): 813–821. doi:10.1053/plac.2001.0728. PMID11718568.