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

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

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.

Integrity signals

Registry

Crossref · 10.1093/hmg/8.5.783

Cites

72 of 72 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • The maternal MKRN3 allele is imprinted and only the paternal allele is expressed.

    “The maternal MKRN3 allele is imprinted and only the paternal allele is expressed.68–70”

    From Pubertal development and regulation (2016) · cites this paper as [69]

  • MKRN3 is located in the Prader-Willi syndrome critical region on chromosome 15 and before the identification of its role in puberty, the few reports about this gene came from research into Prader-Willi syndrome.

    “MKRN3 is located in the Prader-Willi syndrome critical region on chromosome 15 and before the identification of its role in puberty, the few reports about this gene came from research into Prader-Willi syndrome.68,69”

    From Pubertal development and regulation (2016) · cites this paper as [69]

Cites

Flagged first, then by citations

Cited by

Sorted by citations

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.
Venue
Human Molecular Genetics
Published
1999-05-01
Volume
8
Issue
5
Pages
783-793
ISSN
  • 0964-6906 (ISSN-L)
  • 1460-2083
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

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review