Peg1/Mest imprinted gene on chromosome 6 identified by cDNA subtraction hybridization

Kaneko-Ishino, Tomoko; Kuroiwa, Yoshimi; Miyoshi, Naoki; Kohda, Takashi; Suzuki, Rika; Yokoyama, Minesuke; Viville, Stéphane; Barton, Sheila C.; Ishino, Fumitoshi; Surani, M. Azim

doi:10.1038/ng0995-52

Cited by 267 publications

(208 citation statements)

References 35 publications

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“…The imprinted mouse Pegl/M est gene was identified in a systematic screen using subtraction hybridization with cDNAs from parthenogenetic and control embryos (Kaneko-Ishino et al, 1995). Subsequent homology search revealed th at Pegl was identical to the pre viously identified mesoderm-specific cDNA Mest (Sado et al, 1993).…”

Section: Discussionmentioning

confidence: 99%

“…In the mouse, m aternal duplication of the proximal re gion of chromosome 6 is lethal in embryogenesis, possibly because of deficient Pegl/Mest expression. In con trast, paternal duplication of the proximal region of chromosome 6 is viable, suggesting th at the excess gene dosage for Pegl/Mest, or of any other im printed gene in this region, has no detectable influence on development (Cattanach and Beechey, 1990;Beechey and Cattanach, 1995;Kaneko-Ishino et al, 1995). Second, Pérez Jurado et al (1996) determined the parental origin of a deletion found in patients with Williams syndrome, a neurodevelopmental disorder in volving growth retardation.…”

Section: Discussionmentioning

confidence: 99%

“…Recently, the mouse Pegl gene has been identified in a system atic screen using subtraction hybridization betw een cDNAs from parthenogenetic and sim ilar stage-m atched norm al control mouse embryos (Kaneko-Ishino et al, 1995). Pegl is expressed from the paternally derived allele only.…”

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confidence: 99%

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Monoallelic Expression of HumanPEG1/MESTIs Paralleled by Parent-Specific Methylation in Fetuses

Riesewijk

Schulz

et al. 1997

Genomics

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We h ave iso la ted th e hum an PEG U M EST gene and have in v estig a ted its im p rin tin g sta tu s and parentalspecific m eth ylation . FISH m apping assign ed th e gene to chrom osom e 7q32, an d h om ologou s sequences w ere id en tified on th e sh ort arm o f hum an chrom osom es 3 and 5. T hrough th e u se o f a n ew ly id en tified in tragen ic polymorphism, exp ression analysis revealed that PEGU M E ST is m o n o a llelica lly tran scrib ed in all feta l tissu es exam ined. In tw o in form ative cases, exp ression w as show n to b e confined to th e p a tern a lly derived allele. In con trast to th e m on oallelic ex p ressio n observed in fetal tissu es, b ia llelic ex p ressio n w as evid en t in adult blood lym phocytes. B ia lle lic ex p ressio n in blood is supported by th e d em on stration of PEG1IM EST tran scripts in a lym p h ob lastoid cell lin e w ith m aternal u n i parental disom y 7. The hum an PEG U M EST gen e spans a genom ic region o f ap p roxim ately 13 kb. Sequence analysis o f th e 5' reg io n o f P E G 1/M EST revealed the existen ce o f a 620-bp-long CpG isla n d that exten d s from th e p u ta tiv e p rom oter reg io n in to in tron 1. We dem onstrate th at th is CpG isla n d is m eth ylated in a parent-of-origin-specific m anner. A ll M sp V H p a ll sites w ere unm ethyl ate d on th e a ctiv e patern al a llele but m ethylated on th e in a c tiv e m aternal one.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Monoallelic Expression of HumanPEG1/MESTIs Paralleled by Parent-Specific Methylation in Fetuses

Riesewijk

Schulz

et al. 1997

Genomics

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“…The leaky expression of the maternal PEG1/MEST gene observed in humans but not in the mouse could be sufficient to avoid embryonic lethality. 20,31 In mice, imprinting and X-inactivation processes are, in general, more strictly regulated than in humans which might explain the more severe problems observed on parent-specific duplications of imprinted regions.…”

Section: Discussionmentioning

confidence: 99%

Evidence against a major role of PEG1/MEST in Silver–Russell syndrome

et al. 1998

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Silver-Russell syndrome (SRS) is a heterogeneous disorder characterised by interauterine and postnatal growth retardation, with or without additional dysmorphic features. Most cases are sporadic but a few familial cases have been described. A subset of patients exhibit maternal uniparental disomy for chromosome 7 (mUPD7) strongly suggesting that genomic imprinting plays a role in the aetiology of the disease. We and others have recently characterised the human PEG1/MEST gene, the first imprinted gene known to be located on chromosome 7. Although the function of PEG1/MEST is unknown, the paternal-specific expression of this gene and its location at 7q32, render it a promising candidate for SRS. As a prerequisite for mutation screening in 49 patients with SRS and 9 with primordial growth retardation (PGR), we determined the complete genomic structure of the PEG1/MEST gene which consists of 12 exons. Apart from one silent mutation and two novel polymorphisms, nucleotide changes were not detected in any of these patients. Moreover, methylation patterns of the 5' region of PEG1/MEST were found to be normal in 35 SRS and 9 PGR patients and different from the pattern seen in patients with mUPD7. These findings strongly argue against a role of PEG1/MEST in the majority of Silver-Russell syndrome cases.

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“…The mouse homologue, Peg1/Mest, is widely expressed during embryonic development, particularly in mesodermal tissues, and in areas of the developing brain. 16 Targeted inactivation of the paternally derived Peg1/Mest allele results in embryonic growth retardation and, significantly, Peg1/Mest deficient females show abnormal maternal behaviour, providing evidence for a role of Peg1/Mest in the regulation of mammalian behaviour. 17 Human PEG1/MEST expression has been shown to be imprinted in all fetal tissues.…”

Section: Introductionmentioning

confidence: 99%

Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region

Bonora

Bacchelli

et al. 2002

Mol Psychiatry

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Genetic studies indicate that chromosome 7q is likely to contain an autism susceptibility locus (AUTS1). We have followed a positional candidate gene approach to identify the relevant gene and report the analysis of four adjacent genes localised to a 800 kb region in 7q32 that contains an imprinted domain: PEG1/MEST, COPG2, CPA1 and CPA5-a previously uncharacterised member of the carboxypeptidase gene family. Screening these genes for DNA changes and association analysis using intragenic single nucleotide polymorphisms (SNPs) provided no evidence for an etiological role in IMGSAC families. We also searched for imprinting mutations potentially implicated in autism: analysis of both DNA methylation and replication timing indicated a normal imprinting regulation of the PEG1/COPG2 domain in blood lymphocytes of all patients tested. The analysis of these four genes strongly suggests that they do not play a major role in autism aetiology, and delineates our strategy to screen additional candidate genes in the AUTS1 locus.

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Peg1/Mest imprinted gene on chromosome 6 identified by cDNA subtraction hybridization

Cited by 267 publications

References 35 publications

Monoallelic Expression of HumanPEG1/MESTIs Paralleled by Parent-Specific Methylation in Fetuses

Monoallelic Expression of HumanPEG1/MESTIs Paralleled by Parent-Specific Methylation in Fetuses

Evidence against a major role of PEG1/MEST in Silver–Russell syndrome

Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region

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