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Selective loss of imprinting in the placenta following preimplantation development in culture

Mann, Mellissa R. W. ; Lee, Susan S. ; Doherty, Adam S. ; [et al.]

The Company of Biologists ; 2004

In: Development Vol. 131, No. 15 ( 2004-08-01), p. 3727-3735

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In: Development, The Company of Biologists, Vol. 131, No. 15 ( 2004-08-01), p. 3727-3735

Abstract: Preimplantation development is a period of dynamic epigenetic change that begins with remodeling of egg and sperm genomes, and ends with implantation. During this time, parental-specific imprinting marks are maintained to direct appropriate imprinted gene expression. We previously demonstrated that H19 imprinting could be lost during preimplantation development under certain culture conditions. To define the lability of genomic imprints during this dynamic period and to determine whether loss of imprinting continues at later stages of development, imprinted gene expression and methylation were examined after in vitro preimplantation culture. Following culture in Whitten's medium, the normally silent paternal H19 allele was aberrantly expressed and undermethylated. However, only a subset of individual cultured blastocysts (∼65%) exhibited biallelic expression, while others maintained imprinted H19 expression. Loss of H19 imprinting persisted in mid-gestation conceptuses. Placental tissues displayed activation of the normally silent allele for H19, Ascl2, Snrpn, Peg3 and Xist while in the embryo proper imprinted expression for the most part was preserved. Loss of imprinted expression was associated with a decrease in methylation at the H19 and Snrpn imprinting control regions. These results indicate that tissues of trophectoderm origin are unable to restore genomic imprints and suggest that mechanisms that safeguard imprinting might be more robust in the embryo than in the placenta.

Type of Medium: Online Resource

ISSN: 1477-9129 , 0950-1991

URL: Article

DOI: 10.1242/dev.01241

Language: English

Publisher: The Company of Biologists

Publication Date: 2004

detail.hit.zdb_id: 2007916-3

SSG: 12

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Escape from X-inactivation in twins exhibits intra- and inter-individual variability across tissues and is heritable

Zito, Antonino ; Roberts, Amy L. ; Visconti, Alessia ; [et al.]

Public Library of Science (PLoS) ; 2023

In: PLOS Genetics Vol. 19, No. 2 ( 2023-2-21), p. e1010556-

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In: PLOS Genetics, Public Library of Science (PLoS), Vol. 19, No. 2 ( 2023-2-21), p. e1010556-

Abstract: X-chromosome inactivation (XCI) silences one X in female cells to balance sex-differences in X-dosage. A subset of X-linked genes escape XCI, but the extent to which this phenomenon occurs and how it varies across tissues and in a population is as yet unclear. To characterize incidence and variability of escape across individuals and tissues, we conducted a transcriptomic study of escape in adipose, skin, lymphoblastoid cell lines and immune cells in 248 healthy individuals exhibiting skewed XCI. We quantify XCI escape from a linear model of genes’ allelic fold-change and XIST -based degree of XCI skewing. We identify 62 genes, including 19 lncRNAs, with previously unknown patterns of escape. We find a range of tissue-specificity, with 11% of genes escaping XCI constitutively across tissues and 23% demonstrating tissue-restricted escape, including cell type-specific escape across immune cells of the same individual. We also detect substantial inter-individual variability in escape. Monozygotic twins share more similar escape than dizygotic twins, indicating that genetic factors may underlie inter-individual differences in escape. However, discordant escape also occurs within monozygotic co-twins, suggesting environmental factors also influence escape. Altogether, these data indicate that XCI escape is an under-appreciated source of transcriptional differences, and an intricate phenotype impacting variable trait expressivity in females.

Type of Medium: Online Resource

ISSN: 1553-7404

URL: Article

DOI: 10.1371/journal.pgen.1010556

DOI: 10.1371/journal.pgen.1010556.g001

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DOI: 10.1371/journal.pgen.1010556.s009

DOI: 10.1371/journal.pgen.1010556.s010

DOI: 10.1371/journal.pgen.1010556.s011

Language: English

Publisher: Public Library of Science (PLoS)

Publication Date: 2023

detail.hit.zdb_id: 2186725-2

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Tagging methyl-CpG-binding domain proteins reveals different spatiotemporal expression and supports distinct functions

Wood, Kathleen H ; Johnson, Brian S ; Welsh, Sarah A ; [et al.]

Future Medicine Ltd ; 2016

In: Epigenomics Vol. 8, No. 4 ( 2016-04), p. 455-473

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In: Epigenomics, Future Medicine Ltd, Vol. 8, No. 4 ( 2016-04), p. 455-473

Abstract: Aim: DNA methylation is recognized by methyl-CpG-binding domain (MBD) proteins. Multiple MBDs are linked to neurodevelopmental disorders in humans and mice. However, the functions of MBD2 are poorly understood. We characterized Mbd2 knockout mice and determined spatiotemporal expression of MBDs and MBD2–NuRD (nucleosome remodeling deacetylase) interactions. Experimental procedures: We analyzed behavioral phenotypes, generated biotin-tagged MBD1 and MBD2 knockin mice, and performed biochemical studies of MBD2–NuRD. Results: Most behavioral measures are minimally affected in Mbd2 knockout mice. In contrast to other MBDs, MBD2 shows distinct expression patterns. Conclusion: Unlike most MBDs, MBD2 is ubiquitously expressed in all tissues examined and appears dispensable for brain functions measured in this study. We provide novel genetic tools and reveal new directions to investigate MBD2 functions in vivo.

Type of Medium: Online Resource

ISSN: 1750-1911 , 1750-192X

URL: Article

DOI: 10.2217/epi-2015-0004

Language: English

Publisher: Future Medicine Ltd

Publication Date: 2016

SSG: 12

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Differential Effects of Culture on Imprinted H19 Expression in the Preimplantation Mouse Embryo1

Doherty, Adam S. ; Mann, Mellissa R.W. ; Tremblay, Kimberly D. ; [et al.]

Oxford University Press (OUP) ; 2000

In: Biology of Reproduction Vol. 62, No. 6 ( 2000-06-01), p. 1526-1535

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In: Biology of Reproduction, Oxford University Press (OUP), Vol. 62, No. 6 ( 2000-06-01), p. 1526-1535

Type of Medium: Online Resource

ISSN: 0006-3363 , 1529-7268

URL: Article

DOI: 10.1095/biolreprod62.6.1526

Language: English

Publisher: Oxford University Press (OUP)

Publication Date: 2000

detail.hit.zdb_id: 1469812-2

SSG: 12

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A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes

Choufani, Sanaa ; Shapiro, Jonathan S. ; Susiarjo, Martha ; [et al.]

Cold Spring Harbor Laboratory ; 2011

In: Genome Research Vol. 21, No. 3 ( 2011-03), p. 465-476

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In: Genome Research, Cold Spring Harbor Laboratory, Vol. 21, No. 3 ( 2011-03), p. 465-476

Abstract: Imprinted genes are critical for normal human growth and neurodevelopment. They are characterized by differentially methylated regions (DMRs) of DNA that confer parent of origin-specific transcription. We developed a new strategy to identify imprinted gene-associated DMRs. Using genome-wide methylation profiling of sodium bisulfite modified DNA from normal human tissues of biparental origin, candidate DMRs were identified by selecting CpGs with methylation levels consistent with putative allelic differential methylation. In parallel, the methylation profiles of tissues of uniparental origin, i.e., paternally-derived androgenetic complete hydatidiform moles (AnCHMs), and maternally-derived mature cystic ovarian teratoma (MCT), were examined and then used to identify CpGs with parent of origin-specific DNA methylation. With this approach, we found known DMRs associated with imprinted genomic regions as well as new DMRs for known imprinted genes, NAP1L5 and ZNF597 , and novel candidate imprinted genes. The paternally methylated DMR for one candidate, AXL , a receptor tyrosine kinase, was also validated in experiments with mouse embryos that demonstrated Axl was expressed preferentially from the maternal allele in a DNA methylation-dependent manner.

Type of Medium: Online Resource

ISSN: 1088-9051

URL: Article

DOI: 10.1101/gr.111922.110

RVK:

XA 10000

Language: English

Publisher: Cold Spring Harbor Laboratory

Publication Date: 2011

detail.hit.zdb_id: 1483456-X

SSG: 12

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Regulation of Stage-Specific Nuclear Translocation of Dnmt1o during Preimplantation Mouse Development

Doherty, Adam S. ; Bartolomei, Marisa S. ; Schultz, Richard M.

Elsevier BV ; 2002

In: Developmental Biology Vol. 242, No. 2 ( 2002-02), p. 255-266

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In: Developmental Biology, Elsevier BV, Vol. 242, No. 2 ( 2002-02), p. 255-266

Type of Medium: Online Resource

ISSN: 0012-1606

URL: Article

DOI: 10.1006/dbio.2001.0534

Language: English

Publisher: Elsevier BV

Publication Date: 2002

detail.hit.zdb_id: 1463203-2

SSG: 12

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Lrh1 can help reprogram sexual cell fate and is required for Sertoli cell development and spermatogenesis in the mouse testis

Agrimson, Kellie S. ; Minkina, Anna ; Sadowski, Danielle ; [et al.]

Public Library of Science (PLoS) ; 2022

In: PLOS Genetics Vol. 18, No. 2 ( 2022-2-22), p. e1010088-

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In: PLOS Genetics, Public Library of Science (PLoS), Vol. 18, No. 2 ( 2022-2-22), p. e1010088-

Abstract: The mammalian nuclear hormone receptors LRH1 (NR5A2) and SF1 (NR5A1) are close paralogs that can bind the same DNA motif and play crucial roles in gonadal development and function. Lrh1 is essential for follicle development in the ovary and has been proposed to regulate steroidogenesis in the testis. Lrh1 expression in the testis is highly elevated by loss of the sex regulator Dmrt1 , which triggers male-to-female transdifferentiation of Sertoli cells. While Sf1 has a well-defined and crucial role in testis development, no function for Lrh1 in the male gonad has been reported. Here we use conditional genetics to examine Lrh1 requirements both in gonadal cell fate reprogramming and in normal development of the three major cell lineages of the mouse testis. We find that loss of Lrh1 suppresses sexual transdifferentiation, confirming that Lrh1 can act as a key driver in reprogramming sexual cell fate. In otherwise wild-type testes, we find that Lrh1 is dispensable in Leydig cells but is required in Sertoli cells for their proliferation, for seminiferous tubule morphogenesis, for maintenance of the blood-testis barrier, for feedback regulation of androgen production, and for support of spermatogenesis. Expression profiling identified misexpressed genes likely underlying most aspects of the Sertoli cell phenotype. In the germ line we found that Lrh1 is required for maintenance of functional spermatogonia, and hence mutants progressively lose spermatogenesis. Reduced expression of the RNA binding factor Nxf2 likely contributes to the SSC defect. Unexpectedly, however, over time the Lrh1 mutant germ line recovered abundant spermatogenesis and fertility. This finding indicates that severe germ line depletion triggers a response allowing mutant spermatogonia to recover the ability to undergo complete spermatogenesis. Our results demonstrate that Lrh1 , like Sf1 , is an essential regulator of testis development and function but has a very distinct repertoire of functions.

Type of Medium: Online Resource

ISSN: 1553-7404

URL: Article

DOI: 10.1371/journal.pgen.1010088

DOI: 10.1371/journal.pgen.1010088.g001

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DOI: 10.1371/journal.pgen.1010088.s006

DOI: 10.1371/journal.pgen.1010088.s007

Language: English

Publisher: Public Library of Science (PLoS)

Publication Date: 2022

detail.hit.zdb_id: 2186725-2

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Allele-specific RNA imaging shows that allelic imbalances can arise in tissues through transcriptional bursting

Symmons, Orsolya ; Chang, Marcello ; Mellis, Ian A. ; [et al.]

Public Library of Science (PLoS) ; 2019

In: PLOS Genetics Vol. 15, No. 1 ( 2019-1-9), p. e1007874-

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In: PLOS Genetics, Public Library of Science (PLoS), Vol. 15, No. 1 ( 2019-1-9), p. e1007874-

Type of Medium: Online Resource

ISSN: 1553-7404

URL: Article

DOI: 10.1371/journal.pgen.1007874

DOI: 10.1371/journal.pgen.1007874.g001

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DOI: 10.1371/journal.pgen.1007874.s018

DOI: 10.1371/journal.pgen.1007874.s019

DOI: 10.1371/journal.pgen.1007874.s020

Language: English

Publisher: Public Library of Science (PLoS)

Publication Date: 2019

detail.hit.zdb_id: 2186725-2

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NRF2 loss recapitulates heritable impacts of paternal cigarette smoke exposure

Murphy, Patrick J. ; Guo, Jingtao ; Jenkins, Timothy G. ; [et al.]

Public Library of Science (PLoS) ; 2020

In: PLOS Genetics Vol. 16, No. 6 ( 2020-6-10), p. e1008756-

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In: PLOS Genetics, Public Library of Science (PLoS), Vol. 16, No. 6 ( 2020-6-10), p. e1008756-

Type of Medium: Online Resource

ISSN: 1553-7404

URL: Article

DOI: 10.1371/journal.pgen.1008756

DOI: 10.1371/journal.pgen.1008756.g001

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DOI: 10.1371/journal.pgen.1008756.r004

DOI: 10.1371/journal.pgen.1008756.r005

DOI: 10.1371/journal.pgen.1008756.r006

Language: English

Publisher: Public Library of Science (PLoS)

Publication Date: 2020

detail.hit.zdb_id: 2186725-2

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Escape from X Inactivation Varies in Mouse Tissues

Berletch, Joel B. ; Ma, Wenxiu ; Yang, Fan ; [et al.]

Public Library of Science (PLoS) ; 2015

In: PLOS Genetics Vol. 11, No. 3 ( 2015-3-18), p. e1005079-

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In: PLOS Genetics, Public Library of Science (PLoS), Vol. 11, No. 3 ( 2015-3-18), p. e1005079-

Type of Medium: Online Resource

ISSN: 1553-7404

URL: Article

DOI: 10.1371/journal.pgen.1005079

DOI: 10.1371/journal.pgen.1005079.g001

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DOI: 10.1371/journal.pgen.1005079.s015

DOI: 10.1371/journal.pgen.1005079.s016

DOI: 10.1371/journal.pgen.1005079.s017

Language: English

Publisher: Public Library of Science (PLoS)

Publication Date: 2015

detail.hit.zdb_id: 2186725-2

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