Mesoderm-specific transcript homolog protein is a protein that in humans is encoded by the MEST gene.[5][6]
This gene encodes a member of the Alpha/beta hydrolase superfamily and has isoform-specific imprinting. The loss of imprinting of this gene has been linked to certain types of cancer and may be due to promoter switching. Three transcript variants encoding two distinct isoforms have been identified for this gene. A pseudogene for this locus is located on chromosome 6.[6]
MEST is highly expressed during embryonic development, particularly in mesoderm-derived tissues, and is implicated in the regulation of fetal growth and differentiation.[7][8] It is also expressed in the placenta, where it is thought to contribute to nutrient exchange and the establishment of normal growth trajectories.[9] In animal models, Disruption of MEST expression has been associated with growth abnormalities, including reduced fetal growth and altered adipose development.[8][10] 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. [11][12]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000106484 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000051855 – Ensembl, May 2017
- ^ "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 (Feb 1997). "Genomic imprinting and chromosomal localization of the human MEST gene". Genomics. 36 (3): 539–42. doi:10.1006/geno.1996.0502. PMID 8884280.
- ^ a b "Entrez Gene: MEST mesoderm specific transcript homolog (mouse)".
- ^ Kosaki, Kenjiro; Kosaki, Rika; Craigen, William J.; Matsuo, Nobutake (January 2000). "Isoform-Specific Imprinting of the Human PEG1/MEST Gene". The American Journal of Human Genetics. 66 (1): 309–312. doi:10.1086/302712. PMC 1288335. PMID 10631159.
- ^ a b Lefebvre, Louis; Viville, Stéphane; Barton, Sheila C.; Ishino, Fumitoshi; Keverne, Eric B.; Surani, M. Azim (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. ISSN 1061-4036. PMID 9771709.
- ^ Mayer, Wolfgang; Hemberger, Myriam; Frank, Hans-Georg; Gr�mmer, Ruth; Winterhager, Elke; Kaufmann, Peter; Fundele, Reinald (January 2000). "Expression of the imprinted genesMEST/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. ISSN 1058-8388. PMID 10679925.
- ^ Kadota, Yoshito; Kawakami, Takashige; Sato, Masao; Suzuki, Shinya (December 2022). "Mouse mesoderm-specific transcript inhibits adipogenic differentiation and induces trans-differentiation into hepatocyte-like cells in 3T3-L1 preadiocytes". BMC Research Notes. 15 (1) 164. doi:10.1186/s13104-022-06051-x. ISSN 1756-0500. PMC 9092885. PMID 35538505.
- ^ Eggermann, T; Spengler, S; Begemann, M; Binder, G; Buiting, K; Albrecht, B; Spranger, S (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. ISSN 0009-9163. PMID 22211632.
- ^ Eggermann, Thomas; Perez de Nanclares, Guiomar; Maher, Eamonn R.; Temple, I. Karen; Tümer, Zeynep; Monk, David; Mackay, Deborah J. G.; Grønskov, Karen; Riccio, Andrea; Linglart, Agnès; Netchine, Irène (December 2015). "Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci". Clinical Epigenetics. 7 (1) 123. doi:10.1186/s13148-015-0143-8. ISSN 1868-7075. PMC 4650860. PMID 26583054.
Further reading
- Kobayashi S, Kohda T, Miyoshi N, et al. (1997). "Human PEG1/MEST, an imprinted gene on chromosome 7". Hum. Mol. Genet. 6 (5): 781–6. doi:10.1093/hmg/6.5.781. PMID 9158153.
- Riesewijk AM, Hu L, Schulz U, et al. (1997). "Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses". Genomics. 42 (2): 236–44. doi:10.1006/geno.1997.4731. hdl:2066/24440. PMID 9192843. S2CID 24034813.
- Cuisset L, Le Stunff C, Dupont JM, et al. (1998). "PEG1 expression in maternal uniparental disomy 7". Ann. Genet. 40 (4): 211–5. PMID 9526615.
- Riesewijk AM, Blagitko N, Schinzel AA, et al. (1998). "Evidence against a major role of PEG1/MEST in Silver-Russell syndrome". Eur. J. Hum. Genet. 6 (2): 114–20. doi:10.1038/sj.ejhg.5200164. PMID 9781054.
- Pedersen IS, Dervan PA, Broderick D, et al. (1999). "Frequent loss of imprinting of PEG1/MEST in invasive breast cancer". Cancer Res. 59 (21): 5449–51. PMID 10554015.
- Kosaki K, Kosaki R, Craigen WJ, Matsuo N (2000). "Isoform-Specific Imprinting of the Human PEG1/MEST Gene". Am. J. Hum. Genet. 66 (1): 309–12. doi:10.1086/302712. PMC 1288335. PMID 10631159.
- Mayer W, Hemberger M, Frank HG, et al. (2000). "Expression of the imprinted genes MEST/Mest in human and murine placenta suggests a role in angiogenesis". Dev. Dyn. 217 (1): 1–10. doi:10.1002/(SICI)1097-0177(200001)217:1<1::AID-DVDY1>3.0.CO;2-4. PMID 10679925.
- Hayashida S, Yamasaki K, Asada Y, et al. (2000). "Construction of a physical and transcript map flanking the imprinted MEST/PEG1 region at 7q32". Genomics. 66 (2): 221–5. doi:10.1006/geno.2000.6206. PMID 10860668.
- Russo S, Bedeschi MF, Cogliati F, et al. (2000). "Maternal chromosome 7 hetero/isodisomy in Silver-Russell syndrome and PEG1 biallelic expression". Clin. Dysmorphol. 9 (3): 157–62. doi:10.1097/00019605-200009030-00001. PMID 10955473.
- Kerjean A, Dupont JM, Vasseur C, et al. (2000). "Establishment of the paternal methylation imprint of the human H19 and MEST/PEG1 genes during spermatogenesis". Hum. Mol. Genet. 9 (14): 2183–7. doi:10.1093/hmg/9.14.2183. PMID 10958657.
- Kohda M, Hoshiya H, Katoh M, et al. (2001). "Frequent loss of imprinting of IGF2 and MEST in lung adenocarcinoma". Mol. Carcinog. 31 (4): 184–91. doi:10.1002/mc.1053. PMID 11536368. S2CID 46249386.
- Miozzo M, Grati FR, Bulfamante G, et al. (2002). "Post-zygotic origin of complete maternal chromosome 7 isodisomy and consequent loss of placental PEG1/MEST expression". Placenta. 22 (10): 813–21. doi:10.1053/plac.2001.0728. PMID 11718568.
- Kobayashi S, Uemura H, Kohda T, et al. (2002). "No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients". Am. J. Med. Genet. 104 (3): 225–31. doi:10.1002/ajmg.10022. PMID 11754049.
- Li T, Vu TH, Lee KO, et al. (2002). "An imprinted PEG1/MEST antisense expressed predominantly in human testis and in mature spermatozoa". J. Biol. Chem. 277 (16): 13518–27. doi:10.1074/jbc.M200458200. PMID 11821432.
- Bonora E, Bacchelli E, Levy ER, et al. (2002). "Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region". Mol. Psychiatry. 7 (3): 289–301. doi:10.1038/sj.mp.4001004. PMID 11920156.
- Pedersen IS, Dervan P, McGoldrick A, et al. (2002). "Promoter switch: a novel mechanism causing biallelic PEG1/MEST expression in invasive breast cancer". Hum. Mol. Genet. 11 (12): 1449–53. doi:10.1093/hmg/11.12.1449. PMID 12023987.
- Nakabayashi K, Bentley L, Hitchins MP, et al. (2003). "Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32". Hum. Mol. Genet. 11 (15): 1743–56. doi:10.1093/hmg/11.15.1743. PMID 12095916.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Scherer SW, Cheung J, MacDonald JR, et al. (2003). "Human Chromosome 7: DNA Sequence and Biology". Science. 300 (5620): 767–72. Bibcode:2003Sci...300..767S. doi:10.1126/science.1083423. PMC 2882961. PMID 12690205.