Imprinting of a RING zinc-finger encoding gene in the mouse chromosome region homologous to the Prader–Willi syndrome genetic region
Abstract
A novel locus in the human Prader-Willi syndrome (PWS) region encodes the imprinted ZNF127 and antisense ZNF127AS genes. Here, we show that the mouse ZNF127 ortholog, Zfp127, encodes a homologous putative zinc-finger polypeptide, with a RING (C3HC4) and three C3H zinc-finger domains that suggest function as a ribonucleoprotein. By the use of RT-PCR across an in-frame hexamer tandem repeat and RNA from a Mus musculus x M.spretus F1interspecific cross, we show that Zfp127 is expressed only from the paternal allele in brain, heart and kidney. Similarly, Zfp127 is expressed in differentiated cells derived from androgenetic embryonic stem cells and normal embryos but not those from parthogenetic embryonic stem cells. We hypothesize that the gametic imprint may be set, at least in part, by the transcriptional activity of Zfp127 in pre- and post-meiotic male germ cells. Therefore, Zfp127 is a novel imprinted gene that may play a role in the imprinted phenotype of mouse models of PWS.
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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 [68]
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 [68]
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- Authors
- Jong, M. T. C., Carey, A. H., Caldwell, K. A., Lau, M. H., Handel, M. A., Driscoll, D. J., Stewart, C. L., Rinchik, E. M., & Nicholls, R. D.
- Affiliations
- University Hospitals of Cleveland (US)
- University of Tennessee at Knoxville (US)
- University of Florida Health (US)
- Oak Ridge National Laboratory (US)
- Corresponding author
- Nicholls, R. D.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 1999-05-01
- Volume
- 8
- Issue
- 5
- Pages
- 795-803
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2146105594
- Cited by
- 112
- References
- 52
- Citations by year
- 2025: 2 · 2024: 5 · 2023: 4 · 2022: 4 · 2021: 2 · 2020: 4 · 2019: 6 · 2018: 4 · 2017: 5 · 2016: 5 · 2015: 2 · 2014: 5 · 2013: 4 · 2012: 2
- FWCI
- 4.93
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed (publishedVersion)
- HighWire Press Open Archive (submittedVersion)
- Funders
- National Institutes of Health (5r01hd036079-06)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD36079, HD34191)
- 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 › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Keywords
- genomic imprinting, Prader-Willi syndrome, paternal allele expression, male germ cells, ribonucleoprotein
- MeSH terms
- Amino Acid Sequence, Animals, Base Sequence, Brain, Cloning, Molecular, Female, Humans, Kidney, Male, Mice, Inbred Strains, Molecular Sequence Data, Prader-Willi Syndrome, Ribonucleoproteins, Spermatozoa, Testis, Transcription, Genetic, Zinc Fingers, DNA, Antisense, Genomic Imprinting, Gene Expression Regulation, Developmental, Ubiquitin-Protein Ligases, Mice
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