title: No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients.
abstract: Silver-Russell syndrome (SRS) is characterized by prenatal and postnatal growth retardation with morphologic anomalies. Maternal uniparental disomy 7 has been reported in some SRS patients. PEG1/MEST is an imprinted gene on chromosome 7q32 that is expressed only from the paternal allele and is a candidate gene for SRS. To clarify its biological function and role in SRS, we screened PEG1/MEST abnormalities in 15 SRS patients from various standpoints. In the lymphocytes of SRS patients, no aberrant expression patterns of two splice variants (alpha and beta) of PEG1/MEST were detected when they were compared with normal samples. Direct sequence analysis failed to detect any mutations in the PEG1/MEST alpha coding region, and there were no significant mutations in the 5'-flanking upstream region containing the predicted promoter and the highly conserved human/mouse genomic region. Differential methylation patterns of the CpG island for PEG1/MEST alpha were normally maintained and resulted in the same pattern as in the normal control, suggesting that there was no loss of imprinting. These findings suggest that PEG1/MEST can be excluded as a major determinant of SRS.
authors.affiliation: Gene Research Center, Tokyo Institute of Technology, 4259 Nagatsuka-cho, Midori-ku, Yokohama 226-8501, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Kobayashi
authors.forename: H
authors.initials: H
authors.lastname: Uemura
authors.forename: T
authors.initials: T
authors.lastname: Kohda
authors.forename: T
authors.initials: T
authors.lastname: Nagai
authors.forename: Y
authors.initials: Y
authors.lastname: Chinen
authors.forename: K
authors.initials: K
authors.lastname: Naritomi
authors.forename: E I
authors.initials: EI
authors.lastname: Kinoshita
authors.forename: H
authors.initials: H
authors.lastname: Ohashi
authors.forename: K
authors.initials: K
authors.lastname: Imaizumi
authors.forename: M
authors.initials: M
authors.lastname: Tsukahara
authors.forename: Y
authors.initials: Y
authors.lastname: Sugio
authors.forename: H
authors.initials: H
authors.lastname: Tonoki
authors.forename: T
authors.initials: T
authors.lastname: Kishino
authors.forename: T
authors.initials: T
authors.lastname: Tanaka
authors.forename: M
authors.initials: M
authors.lastname: Yamada
authors.forename: O
authors.initials: O
authors.lastname: Tsutsumi
authors.forename: N
authors.initials: N
authors.lastname: Niikawa
authors.forename: T
authors.initials: T
authors.lastname: Kaneko-Ishino
authors.forename: F
authors.initials: F
authors.lastname: Ishino
mesh_terms: D024506:5' Flanking Region / Q000235:genetics; D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D017398:Alternative Splicing; D004247:DNA / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D019175:DNA Methylation; D005091:Exons; D005796:Genes / Q000235:genetics; D006130:Growth Disorders / Q000473:pathology*; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D009154:Mutation; D011506:Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA; D013577:Syndrome
chemical_list: D011506:Proteins; C103637:mesoderm specific transcript protein; D004247:DNA