Timing of paternal Pgk-1 expression in embryos of transgenic mice

Development ◽  
1991 ◽  
Vol 111 (4) ◽  
pp. 1109-1120 ◽  
Author(s):  
D.D. Pravtcheva ◽  
C.N. Adra ◽  
F.H. Ruddle
Keyword(s):  
Chromosomal Localization ◽  
Chromosomal Location ◽  
Chromosome Region ◽  
Embryo Cell ◽  
Paternal Allele ◽  
Maternal Allele ◽  
Mouse Development ◽  
Linked Gene ◽  
Controlling Element ◽  
Mouse Lines

In mouse development, the paternal allele of the X-linked gene Pgk-1 initiates expression on day 6, two days later than the maternal allele, which is activated on day 4. The different timing of expression of the maternal and paternal alleles may be determined by (i) imprinting of the chromosome region in which the gene resides, but not aimed specifically at the Pgk-1 gene; (ii) gene specific imprinting, acting on Pgk-1 irrespective of the chromosomal localization of the gene; (iii) an interplay between embryo cell differentiation, timing of X-inactivation and Pgk-1 expression, without the involvement of imprinting at the Pgk-1 locus itself (Fundele R., Illmensee, K., Jagerbauer, E. M., Fehlau, M. and Krietsch, W. K. (1987) Differentiation 35, 31–36). Our findings in transgenic mouse lines, carrying Pgk-1 on autosomes, indicate the importance of the X chromosomal location for the delayed expression of the paternal Pgk-1 allele, and are in agreement with the first of the explanations listed above. We propose that the late activation of the paternal Pgk-1 locus is a consequence of imprinting targeted at, and centered around, the X chromosome controlling element.

Expression-based assay of an X-linked gene to examine effects of the X-controlling element (Xce) locus

2000 ◽  
Vol 11 (5) ◽  
pp. 405-408 ◽  
Author(s):  
Robert M. Plenge ◽  
Ivona Percec ◽  
Joseph H. Nadeau ◽  
Huntington F. Willard
Keyword(s):  
Linked Gene ◽  
Controlling Element

scholarly journals Author response: Regulation of X-linked gene expression during early mouse development by Rlim

2016 ◽  
Author(s):  
Feng Wang ◽  
JongDae Shin ◽  
Jeremy M Shea ◽  
Jun Yu ◽  
Ana Bošković ◽  
...  
Keyword(s):  
Gene Expression ◽  
Author Response ◽  
Mouse Development ◽  
Linked Gene ◽  
Early Mouse

scholarly journals DNA demethylase ROS1 negatively regulates the imprinting of DOGL4 and seed dormancy in Arabidopsis thaliana

2018 ◽  
Vol 115 (42) ◽  
pp. E9962-E9970 ◽  
Author(s):  
Haifeng Zhu ◽  
Wenxiang Xie ◽  
Dachao Xu ◽  
Daisuke Miki ◽  
Kai Tang ◽  
...  
Keyword(s):  
Gene Expression ◽  
Seed Dormancy ◽  
Genomic Imprinting ◽  
Dna Demethylation ◽  
Paternal Allele ◽  
Maternal Allele ◽  
Imprinted Gene ◽  
Differential Gene ◽  
Parent Of Origin ◽  
Dna Demethylase

Genomic imprinting is a form of epigenetic regulation resulting in differential gene expression that reflects the parent of origin. In plants, imprinted gene expression predominantly occurs in the seed endosperm. Maternal-specific DNA demethylation by the DNA demethylase DME frequently underlies genomic imprinting in endosperm. Whether other more ubiquitously expressed DNA demethylases regulate imprinting is unknown. Here, we found that the DNA demethylase ROS1 regulates the imprinting of DOGL4. DOGL4 is expressed from the maternal allele in endosperm and displays preferential methylation and suppression of the paternal allele. We found that ROS1 negatively regulates imprinting by demethylating the paternal allele, preventing its hypermethylation and complete silencing. Furthermore, we found that DOGL4 negatively affects seed dormancy and response to the phytohormone abscisic acid and that ROS1 controls these processes by regulating DOGL4. Our results reveal roles for ROS1 in mitigating imprinted gene expression and regulating seed dormancy.

scholarly journals Allelic H3K27me3 to allelic DNA methylation switch maintains noncanonical imprinting in extraembryonic cells

2019 ◽  
Vol 5 (12) ◽  
pp. eaay7246 ◽  
Author(s):  
Zhiyuan Chen ◽  
Qiangzong Yin ◽  
Azusa Inoue ◽  
Chunxia Zhang ◽  
Yi Zhang
Keyword(s):  
Dna Methylation ◽  
De Novo ◽  
Genetic Manipulation ◽  
Paternal Allele ◽  
Gene Promoters ◽  
Maternal Allele ◽  
Mammalian Development ◽  
Placental Development ◽  
Early Embryos ◽  
Allele Specific

Faithful maintenance of genomic imprinting is essential for mammalian development. While germline DNA methylation–dependent (canonical) imprinting is relatively stable during development, the recently found oocyte-derived H3K27me3-mediated noncanonical imprinting is mostly transient in early embryos, with some genes important for placental development maintaining imprinted expression in the extraembryonic lineage. How these noncanonical imprinted genes maintain their extraembryonic-specific imprinting is unknown. Here, we report that maintenance of noncanonical imprinting requires maternal allele–specific de novo DNA methylation [i.e., somatic differentially methylated regions (DMRs)] at implantation. The somatic DMRs are located at the gene promoters, with paternal allele–specific H3K4me3 established during preimplantation development. Genetic manipulation revealed that both maternal EED and zygotic DNMT3A/3B are required for establishing somatic DMRs and maintaining noncanonical imprinting. Thus, our study not only reveals the mechanism underlying noncanonical imprinting maintenance but also sheds light on how histone modifications in oocytes may shape somatic DMRs in postimplantation embryos.

Dictyate Oocytes of a Kangaroo (Macropus robustus) Show Paternal Inactivation at the X-linked Gpd Locus

1985 ◽  
Vol 38 (1) ◽  
pp. 79 ◽  
Author(s):  
PG Johnston ◽  
E S Robinson ◽  
DM Johnston
Keyword(s):  
Paternal Allele ◽  
Maternal Allele ◽  
Large Numbers ◽  
The Cross ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Medullary Cells

Purified samples of large numbers of dictyate oocytes from 13 M. robustus pouch young heterozygous for glucose-6-phosphate dehydrogenase type and six homozygous controls were examined electrophoretically to determine activity states at the Gpd locus. Like somatic cortical and medullary cells, oocytes expressed only the maternal phenotype irrespective of the direction of the cross. No evidence was found of reactivation of the inactive (paternal) allele or inactivation of both maternal and paternal alleles. It was therefore concluded that unlike eutherian dictyate oocytes, only a single (maternal) allele is active in each dictyate oocyte in M. robustus. The stage of reactivation of the paternal allele remains to be determined.

scholarly journals BIOLOGICAL SCIENCES: Genetics

2018 ◽  
Author(s):  
Jack S. Hsiao ◽  
Noelle D. Germain ◽  
Andrea Wilderman ◽  
Christopher Stoddard ◽  
Luke A. Wojenski ◽  
...  
Keyword(s):  
Boundary Element ◽  
Angelman Syndrome ◽  
Antisense Transcript ◽  
Neurodevelopmental Disorder ◽  
Boundary Function ◽  
Paternal Allele ◽  
Loss Of Function ◽  
Maternal Allele ◽  
Specific Expression ◽  
Human Neurons

ABSTRACTAngelman syndrome (AS) is a severe neurodevelopmental disorder caused by the loss of function from the maternal allele of UBE3A, a gene encoding an E3 ubiquitin ligase. UBE3A is only expressed from the maternally-inherited allele in mature human neurons due to tissue-specific genomic imprinting. Imprinted expression of UBE3A is restricted to neurons by expression of UBE3A antisense transcript (UBE3A-ATS) from the paternally-inherited allele, which silences the paternal allele of UBE3A in cis. However, the mechanism restricting UBE3A-ATS expression and UBE3A imprinting to neurons is not understood. We used CRISPR/Cas9-mediated genome editing to functionally define a bipartite boundary element critical for neuron-specific expression of UBE3A-ATS in humans. Removal of this element led to upregulation of UBE3A-ATS without repressing paternal UBE3A. However, increasing expression of UBE3A-ATS in the absence of the boundary element resulted in full repression of paternal UBE3A, demonstrating that UBE3A imprinting requires both the loss of function from the boundary element as well as upregulation of UBE3A-ATS. These results suggest that manipulation of the competition between UBE3A-ATS and UBE3A may provide a potential therapeutic approach for AS.SIGNIFICANCE STATEMENTAngelman syndrome is a neurodevelopmental disorder caused by loss of function from the maternal allele of UBE3A, an imprinted gene. The paternal allele of UBE3A is silenced by a long, non-coding antisense transcript in mature neurons. We have identified a boundary element that stops the transcription of the antisense transcript in human pluripotent stem cells, and thus restricts UBE3A imprinted expression to neurons. We further determined that UBE3A imprinting requires both the loss of the boundary function and sufficient expression of the antisense transcript to silence paternal UBE3A. These findings provide essential details about the mechanisms of UBE3A imprinting that may suggest additional therapeutic approaches for Angelman syndrome.

scholarly journals Transposable Elements in Maize the?Activator-Dissociation (Ac-Ds) System

1984 ◽  
Vol 37 (6) ◽  
pp. 307 ◽  
Author(s):  
E A Howard ◽  
E S Dennis
Keyword(s):  
Zea Mays ◽  
Transposable Elements ◽  
Transposable Element ◽  
Chromosomal Location ◽  
Lower Eukaryotes ◽  
Element System ◽  
Controlling Element ◽  
Series Of Experiments ◽  
Higher Eukaryotes ◽  
Living Organisms

Although unstable mutants in maize (Zea mays) were described as early as 1914 (Emerson 1914, 1917, 1929; Rhoades 1936, 1938), the first explanation of such mutants in terms of transposable DNA was provided by Barbara McClintock's elegant series of experiments on the activator-dissociation (Ac-Ds) controlling-element system of maize (McClintock 1947,1948, 1951). McClintock demonstrated genetically thatAc and Ds were short regions of DNA which could move (transpose) from one chromosomal location to another. McClintock also established that Ds could transpose only in response to the action of Ac (i.e. both elements were required in the same nucleus for Ds transposition), and that Ac could transpose autonomously (i.e. in the absence of Ds). A total of eight transposable element systems have been recognized in maize, the best characterized of which are Ac(Mp)Ds, Spm and Robertson's mutator (reviewed in Fedoroff 1983; Nevers et al. 1984). All but Robertson's mutator occur as two-element systems, similar to Ac-Ds. Transposable elements have now been shown to be widespread in living organisms-occurring in prokaryotes and lower eukaryotes as well as other higher eukaryotes, including animals.

The paternal allele of the H19 gene is progressively silenced during early mouse development: the acetylation status of histones may be involved in the generation of variegated expression patterns

Development ◽  
1998 ◽  
Vol 125 (1) ◽  
pp. 61-69 ◽  
Author(s):  
K. Svensson ◽  
R. Mattsson ◽  
T.C. James ◽  
P. Wentzel ◽  
M. Pilartz ◽  
...  
Keyword(s):  
Histone Deacetylases ◽  
Trichostatin A ◽  
Expression Patterns ◽  
Position Effect ◽  
Life Time ◽  
Paternal Allele ◽  
Position Effect Variegation ◽  
Mouse Development ◽  
Early Mouse

Transcriptional silencing can reflect heritable, epigenetic inactivation of genes, either singly or in groups, during the life-time of an organism. This phenomenon is exemplified by parent-of-origin-specific inactivation events (genomic imprinting) for a subset of mammalian autosomal genes, such as H19. Very little is known, however, about the timing and mechanism(s) of silencing of the paternal H19 allele during mouse development. Using a novel in situ approach, we present evidence that the silencing of the paternal H19 allele is progressive in the trophectodermal lineage during early mouse development and generates variegated expression patterns. The silencing process apparently involves recruitment of histone deacetylases since the mosaic paternal-specific H19 expression reappears in trichostatin A-treated mouse conceptuses, undergoing in vitro organogenesis. Moreover, the paternal H19 alleles of PatDup.d7 placentas, in which a region encompassing the H19 locus of chromosome 7 is bipaternally derived, partially escape the silencing process and are expressed in a variegated manner. We suggest that allele-specific silencing of H19 share some common features with chromatin-mediated silencing in position-effect variegation.

scholarly journals Rapid Recapitulation of Nonalcoholic Steatohepatitis upon Loss of Host Cell Factor 1 Function in Mouse Hepatocytes

2018 ◽  
Vol 39 (5) ◽  
Author(s):  
Shilpi Minocha ◽  
Dominic Villeneuve ◽  
Viviane Praz ◽  
Catherine Moret ◽  
Maykel Lopes ◽  
...  
Keyword(s):  
Host Cell ◽  
Nonalcoholic Steatohepatitis ◽  
Genetically Engineered ◽  
Mouse Development ◽  
Linked Gene ◽  
Nonalcoholic Fatty Liver ◽  
Host Cell Factor ◽  
Mouse Hepatocytes ◽  
And Function ◽  
Host Cell Factor 1

ABSTRACT Host cell factor 1 (HCF-1), encoded by the ubiquitously expressed X-linked gene Hcfc1, is an epigenetic coregulator important for mouse development and cell proliferation, including during liver regeneration. We used a hepatocyte-specific inducible Hcfc1 knockout allele (called Hcfc1hepKO) to induce HCF-1 loss in hepatocytes of hemizygous Hcfc1hepKO/Y males by 4 days. In heterozygous Hcfc1hepKO/+ females, owing to random X-chromosome inactivation, upon Hcfc1hepKO allele induction, a 50/50 mix of HCF-1-positive and -negative hepatocyte clusters is engineered. The livers with Hcfc1hepKO/Y hepatocytes displayed a 21- to 24-day terminal nonalcoholic fatty liver (NAFL), followed by nonalcoholic steatohepatitis (NASH) disease progression typical of severe NAFL disease (NAFLD). In contrast, in livers with heterozygous Hcfc1hepKO/+ hepatocytes, HCF-1-positive hepatocytes replaced HCF-1-negative hepatocytes and revealed only mild NAFL development. Loss of HCF-1 led to loss of PGC1α protein, probably owing to its destabilization, and deregulation of gene expression, particularly of genes involved in mitochondrial structure and function, likely explaining the severe Hcfc1hepKO/Y liver pathology. Thus, HCF-1 is essential for hepatocyte function, likely playing both transcriptional and nontranscriptional roles. These genetically engineered loss-of-HCF-1 mice can be used to study NASH as well as NAFLD resolution.

scholarly journals Regulation of X-linked gene expression during early mouse development by Rlim

eLife ◽  
2016 ◽  
Vol 5 ◽  
Author(s):  
Feng Wang ◽  
JongDae Shin ◽  
Jeremy M Shea ◽  
Jun Yu ◽  
Ana Bošković ◽  
...  
Keyword(s):  
Gene Expression ◽  
X Chromosome ◽  
Gene Dosage ◽  
Mouse Genetics ◽  
Preimplantation Embryos ◽  
Mouse Development ◽  
Linked Gene ◽  
Temporal Regulation ◽  
Non Coding Rna ◽  
Early Mouse

Mammalian X-linked gene expression is highly regulated as female cells contain two and male one X chromosome (X). To adjust the X gene dosage between genders, female mouse preimplantation embryos undergo an imprinted form of X chromosome inactivation (iXCI) that requires both Rlim (also known as Rnf12) and the long non-coding RNA Xist. Moreover, it is thought that gene expression from the single active X is upregulated to correct for bi-allelic autosomal (A) gene expression. We have combined mouse genetics with RNA-seq on single mouse embryos to investigate functions of Rlim on the temporal regulation of iXCI and Xist. Our results reveal crucial roles of Rlim for the maintenance of high Xist RNA levels, Xist clouds and X-silencing in female embryos at blastocyst stages, while initial Xist expression appears Rlim-independent. We find further that X/A upregulation is initiated in early male and female preimplantation embryos.

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