Retrotransposed genes such as Frat3 in the mouse Chromosome 7C Prader-Willi syndrome region acquire the imprinted status of their insertion site

@article{Chai2001RetrotransposedGS,
  title={Retrotransposed genes such as Frat3 in the mouse Chromosome 7C Prader-Willi syndrome region acquire the imprinted status of their insertion site},
  author={Jing-Hua Chai and Devin P. Locke and Tohru Ohta and John M. Greally and Robert D. Nicholls},
  journal={Mammalian Genome},
  year={2001},
  volume={12},
  pages={813-821}
}
Abstract. Prader-Willi syndrome (PWS) results from loss of function of a 1.0- to 1.5-Mb domain of imprinted, paternally expressed genes in human Chromosome (Chr) 15q11-q13. The loss of imprinted gene expression in the homologous region in mouse Chr 7C leads to a similar neonatal PWS phenotype. Several protein-coding genes in the human PWS region are intronless, possibly arising by retrotransposition. Here we present evidence for continued acquisition of genes by the mouse PWS region during… 
Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons.
TLDR
Two known and two novel genes are identified in this region in human and their orthologs in mouse chromosome 7C, supporting a model in which duplications of the HERC2 gene at BP3 in primates first flanked the four-gene cassette, with subsequent transposition of these four unique genes by a Herc2 duplicon-mediated process to form the BP1-BP2 region.
Genetic mapping of putative Chrna7 and Luzp2 neuronal transcriptional enhancers due to impact of a transgene-insertion and 6.8 Mb deletion in a mouse model of Prader-Willi and Angelman syndromes
TLDR
Based on the extent of the deletion, TgPWS/TgAS mice are models for PWS/AS class I deletions and a putative Luzp2 neuronal enhancer responsible for ~33% of allelic transcriptional activity is genetically mapped.
The Imprinted NPAP1 Gene in the Prader–Willi Syndrome Region Belongs to a POM121-Related Family of Retrogenes
TLDR
The results suggest that the nuclear pore-associated gene NPAP1 originates from the vertebrate nucleoporin gene POM121 and—after several steps of retrotransposition and duplication—has been subjected to genomic imprinting and positive selection after integration into the imprinted SNRPN-UBE3A chromosomal domain.
A nonimprinted Prader-Willi Syndrome (PWS)-region gene regulates a different chromosomal domain in trans but the imprinted pws loci do not alter genome-wide mRNA levels.
TLDR
It appears that the imprinted mouse PWS loci do not widely regulate mRNA levels of other genes and may regulate RNA structure, since 48-60% of the genome was screened.
The Prader-Willi syndrome murine imprinting center is not involved in the spatio-temporal transcriptional regulation of the Necdin gene
TLDR
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Whole genome microarray analysis of gene expression in an imprinting center deletion mouse model of Prader–Willi syndrome
TLDR
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TLDR
Paternal inheritance of the human PWS-IC demonstrates for the first time that a positive regulatory element in the P WS-IC has diverged, and creates the first reported mouse model for AS imprinting defects.
A Screen for Retrotransposed Imprinted Genes Reveals an Association between X Chromosome Homology and Maternal Germ-Line Methylation
TLDR
The striking correlation between imprinting and X chromosome provenance suggests that retrotransposed elements with homology to the X chromosome can be selectively targeted for methylation during mammalian oogenesis.
Recent Assembly of an Imprinted Domain from Non-Imprinted Components
TLDR
It is discovered that the Prader-Willi/Angelman syndrome region on human Chromosome 15q was assembled only recently (105–180 million years ago) and the evolution of imprinting in viviparous mammals is ongoing.
An Extended Domain of Kcnq1ot1 Silencing Revealed by an Imprinted Fluorescent Reporter
TLDR
Evidence is presented that the distal imprinting center, KvDMR1 (IC2), is responsible for the paternal silencing of Tel7KI and that splice variants of Th and Ins2 are imprinted, maternally expressed, and regulated by IC2, showing that the silencing domain uncovered by the transgenic line also affects endogenous transcripts.
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References

SHOWING 1-10 OF 49 REFERENCES
A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and angelman syndromes.
TLDR
The characterization of a transgene insertion into mouse chromosome 7C of Epstein-Barr virus Latent Membrane Protein 2A, LMP2A, which has resulted in mouse models for PWS and AS dependent on the sex of the transmitting parent is reported here.
Identification of a testis-specific gene (C15orf2) in the Prader-Willi syndrome region on chromosome 15.
TLDR
It is concluded that C15orf2 may play a role in primate spermatogenesis, which is associated with a CpG island and transcribed as a 7.5-kb mRNA and contains an open reading frame encoding a predicted 1156-amino-acid protein of unknown function.
Expression and imprinting of MAGEL2 suggest a role in Prader-willi syndrome and the homologous murine imprinting phenotype.
TLDR
It is hypothesized that, although loss of necdin expression may be important in the neonatal presentation of PWS, loss of MAGEL2 may be critical to abnormalities in brain development and dysmorphic features in individuals with PWS.
The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region.
TLDR
The characterization of MAGEL2 and its mouse homologue Magel2, located in the human 15q11-q13 and mouse 7C regions, in close proximity to NDN / Ndn, suggests a potential role in the aetiology of PWS and itsmouse model, respectively.
The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse.
TLDR
It is reported that the human necdin-encoding gene (NDN) is within the centromeric portion of the PWS deletion region, between the two imprinted genes ZNF127 and SNRPN, and demonstrated that expression of Ndn is limited to the paternal allele in RNA from newborn mouse brain.
Imprinting of a RING zinc-finger encoding gene in the mouse chromosome region homologous to the Prader-Willi syndrome genetic region.
TLDR
Zfp127 is a novel imprinted gene that may play a role in the imprinted phenotype of mouse models of PWS, and it is 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.
The Mouse Necdin Gene Is Expressed from the Paternal Allele Only and Lies in the 7C Region of the Mouse Chromosome 7, a Region of Conserved Synteny to the Human Prader-Willi Syndrome Region
TLDR
The paternal specific expression of Necdin in the mouse central nervous system is demonstrated, and it is shown that parental alleles display a differential methylation profile in the coding region, demonstrating imprinting of the mouse Necdin gene.
An imprinted mouse transcript homologous to the human imprinted in Prader-Willi syndrome (IPW) gene.
TLDR
A mouse gene is cloned that has sequence similarity to a part of IPW and is located in the conserved homologous region of mouse chromosome 7, and it is proposed that Ipw is the murine homolog of IPw.
Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader–Willi syndrome region
TLDR
This work has mapped a gene, Snrpn, encoding a brain–enriched small nuclear ribonucleoprotein (snRNP)–associated polypeptide SmN, to mouse chromosome 7 in a region of homology with human chromosome 15q11–13 and demonstrated that SnRpn is a maternally imprinted gene in mouse.
Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes.
The chromosomal region, 15q11-q13, involved in Prader-Willi and Angelman syndromes (PWS and AS) represents a paradigm for understanding the relationships between genome structure, epigenetics,
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