Cited by 230Genetic Syndromes and ImprintingGenomics and Chromatin DynamicsEpigenetics and DNA Methylation

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A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader–Willi syndrome critical region

Jong, M. T. C., Gray, T. A., Ji, Y., Glenn, C. C., Saitoh, S., Driscoll, D. J., Nicholls, R. D.·1999·Human Molecular Genetics

DOI 10.1093/hmg/8.5.783

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Abstract

We describe a complex imprinted locus in chromosome 15q11-q13 that encodes two genes, ZNF127 and ZNF127AS. The ZNF127 gene encodes a protein with a RING (C3HC4) zinc-finger and multiple C3H zinc-finger motifs, the former being closely related to a protein from variola major virus, the smallpox etiological agent. These motifs allow prediction of ZNF127 function as a ribonucleoprotein. The intronless ZNF127 gene is expressed ubiquitously, but the entire coding sequence and 5' CpG island overlaps a second gene, ZNF127AS, that is transcribed from the antisense strand with a different transcript size and pattern of expression. Allele-specific analysis shows that ZNF127 is expressed only from the paternal allele. Consistent with this expression pattern, in the brain the ZNF127 5' CpG island is completely unmethylated on the paternal allele but methylated on the maternal allele. Analyses of adult testis, sperm and fetal oocytes demonstrates a gametic methylation imprint with unmethylated paternal germ cells. Recent findings indicate that ZNF127 is part of the coordinately regulated imprinted domain affected in Prader-Willi syndrome patients with imprinting mutations. Therefore, ZNF127 and ZNF127AS are novel imprinted genes that may be associated with some of the clinical features of the polygenic Prader-Willi syndrome.

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Authors: Jong, M. T. C., Gray, T. A., Ji, Y., Glenn, C. C., Saitoh, S., Driscoll, D. J., & Nicholls, R. D.
Affiliations: University Hospitals of Cleveland (US)
University of Florida Health (US)
Corresponding author: Nicholls, R. D.
ORCID: Gray, T. A.
Ji, Y.
Saitoh, S.
Driscoll, D. J.
Nicholls, R. D.
Venue: Human Molecular Genetics
Publisher: Oxford University Press (OUP)
Published: 1999-05-01
Volume: 8
Issue: 5
Pages: 783-793
ISSN: 0964-6906 (ISSN-L)
1460-2083
DOI: 10.1093/hmg/8.5.783
OpenAlex: W2147714004
Cited by: 230
References: 72
Citations by year: 2026: 2 · 2025: 3 · 2024: 3 · 2023: 15 · 2022: 14 · 2021: 4 · 2020: 6 · 2019: 9 · 2018: 12 · 2017: 8 · 2016: 7 · 2015: 4 · 2014: 12 · 2013: 10 · 2012: 4
FWCI: 9.86
Type: journal article
Language: en
Open access: closed
Locations: Human Molecular Genetics (publishedVersion)
PubMed (publishedVersion)
HighWire Press Open Archive (submittedVersion)
Funders: Hokkaido University
National Institute of General Medical Sciences (GM18306, F32GM018306)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD31941)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
Keywords: Prader-Willi syndrome, genomic imprinting, antisense transcripts, CpG island methylation, allele-specific expression, chromosome 15q11-q13, imprinted genes, ribonucleoprotein
MeSH terms: Adolescent, Amino Acid Sequence, Base Sequence, Child, Child, Preschool, Genes, Overlapping, Germ Cells, Humans, Infant, Infant, Newborn, Male, Molecular Sequence Data, Prader-Willi Syndrome, Ribonucleoproteins, Testis, Transcription, Genetic, Zinc Fingers, DNA, Antisense, Genomic Imprinting, Gene Expression Regulation, Developmental, DNA Methylation, Ubiquitin-Protein Ligases

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A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader–Willi syndrome critical region

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