The DOI matches its Crossref record; 37 of the 37 references it cites were found in a registry or an index.
An N -ethyl- N -nitrosourea screen for genes involved in variegation in the mouse
Open accessAbstract
We have developed a sensitized screen to identify genes involved in gene silencing, using random N -ethyl- N -nitrosourea mutagenesis on mice carrying a variegating GFP transgene. The dominant screen has produced six mutant lines, including both suppressors and enhancers of variegation. All are semidominant and five of the six are homozygous embryonic lethal. In one case, the homozygous lethality depends on sex: homozygous females die at midgestation and display abnormal DNA methylation of the X chromosome, whereas homozygous males are viable. Linkage analysis reveals that the mutations map to unique chromosomal locations. We have studied the effect of five of the mutations on expression of an endogenous allele known to be sensitive to epigenetic state, agouti viable yellow . In all cases, there is an effect on penetrance, and in most cases, parent of origin and sex-specific effects are detected. This screen has identified genes that are involved in epigenetic reprogramming of the genome, and the behavior of the mutant lines suggests a common mechanism between X inactivation and transgene and retrotransposon silencing. Our findings raise the possibility that the presence or absence of the X chromosome in mammals affects the establishment of the epigenetic state at autosomal loci by acting as a sink for proteins involved in gene silencing. The study demonstrates the power of sensitized screens in the mouse not only for the discovery of novel genes involved in a particular process but also for the elucidation of the biology of that process.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
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 cited source says what the claim attributes to it.
In the citing paper
“A preliminary description of the first six heritable mutations, which we refer to as Modifiers of murine metastable epialleles or Mommes, following the screening of 608 G1 offspring, has been published [10].”
From A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development (2008) · cites this paper as [10]
In the citing paper
“We reported that all six were dosage-effect genes and five of the six were homozygous lethal, with loss of homozygotes apparent at weaning, but no knowledge of when death occurred.”
From A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development (2008) · cites this paper as [10]
In the citing paper
“We have previously reported that the GFP transgene used in this screen has integrated as an approximately 11 copy array on chromosome 1 [10].”
From A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development (2008) · cites this paper as [10]
In the citing paper
“Recently, we established a similar screen in the mouse using a transgenic line that expresses green fluorescent protein (GFP) in a variegated manner in erythrocytes [10].”
From A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development (2008) · cites this paper as [10]
In the citing paper
“MommeD2 and MommeD4 are homozygous lethal at 8.5 days post-coitus (dpc) and 17.5 dpc, respectively [10,12].”
From A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development (2008) · cites this paper as [10]
In the citing paper
“We have reported previously that as the percentage of expressing cells increases, the mean fluorescence of the expressing cells increases [10].”
From A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development (2008) · cites this paper as [10]
In the citing paper
“MommeD5 was localized to a 1.42 Mb region on chromosome 4 flanked by the markers rs27486641 and rs27541967 [10] (Table 4).”
From A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development (2008) · cites this paper as [10]
In the citing paper
“MommeD1 is homozygous lethal in females only, with death occurring around mid-gestation [10,11].”
From A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development (2008) · cites this paper as [10]
In the citing paper
“The frequency with which we found these mutations, 1 in 100 G1 offspring, was similar to our previous results [10].”
From A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development (2008) · cites this paper as [10]
In the citing paper
“Extension of the screen has produced four new MommeDs, MommeD7-D10, all of which behave in a semidominant fashion, as do the six previously reported [10].”
From A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development (2008) · cites this paper as [10]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
The Genetics and Biology of Drosophila
(1978) · Food and Cosmetics Toxicology · doi:10.1016/s0015-6264(78)80200-4 · Cited by 3,776
Epigenetic Reprogramming in Mammalian Development
Reik, W., Dean, W., & Walter, J. (2001) · Science · doi:10.1126/science.1063443 · Cited by 3,078
Genetic variants and strains of the laboratory mouse
(1990) · Choice Reviews Online · doi:10.5860/choice.28-1324 · Cited by 1,492
Epigenetic inheritance at the agouti locus in the mouse
Morgan, H. D., Sutherland, H. G. E., Martin, D. I. K., & Whitelaw, E. (1999) · Nature Genetics · doi:10.1038/15490 · Cited by 1,476
Self-citationRepeat-induced gene silencing in mammals
Garrick, D., Fiering, S., Martin, D. I. K., & Whitelaw, E. (1998) · Nature Genetics · doi:10.1038/ng0198-56 · Cited by 887
Self-citationMolecular characterization of the mouse agouti locus
Bultman, S. J., Michaud, E. J., & Woychik, R. P. (1992) · Cell · doi:10.1016/s0092-8674(05)80067-4 · Cited by 805
Heterochromatic Silencing and HP1 Localization in Drosophila Are Dependent on the RNAi Machinery
Pal‐Bhadra, M., Leibovitch, B. A., Gandhi, S. G., Rao, M., Bhadra, U., Birchler, J. A., & Elgin, S. C. R. (2004) · Science · doi:10.1126/science.1092653 · Cited by 655
Rakyan, V. K., Chong, S., Blewitt, M. E., Cuthbert, P. C., Morgan, H. D., Luu, K. V. K., & Whitelaw, E. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0436776100 · Cited by 642
Self-citationGenetic variants and strains of the Laboratory mouse
(1996) · doi:10.1093/oso/9780198548690.001.0001 · Cited by 504
Expansions of transgene repeats cause heterochromatin formation and gene silencing in Drosophila
Dorer, D. R. (1994) · Cell · doi:10.1016/0092-8674(94)90439-1 · Cited by 504
Cited by
Sorted by citations
Lemmers, R. J. L. F., Tawil, R., Petek, L. M., Balog, J., Block, G. J., Santen, G. W. E., Amell, A. M., van der Vliet, P. J., Almomani, R., Straasheijm, K. R., et al. (2012) · Nature Genetics · doi:10.1038/ng.2454 · Cited by 661
Child Health, Developmental Plasticity, and Epigenetic Programming
Hochberg, Z., Feil, R., Constância, M., Fraga, M. F., Junien, C., Carel, J., Boileau, P., Bouc, Y. L., Deal, C., Lillycrop, K. A., et al. (2010) · Endocrine Reviews · doi:10.1210/er.2009-0039 · Cited by 657
Self-citationConstitutive heterochromatin formation and transcription in mammals
Saksouk, N., Simboeck, E., & Déjardin, J. (2015) · Epigenetics & Chromatin · doi:10.1186/1756-8935-8-3 · Cited by 607
Epigenetic gene regulation: Linking early developmental environment to adult disease
Dolinoy, D. C., Weidman, J. R., & Jirtle, R. L. (2006) · Reproductive Toxicology · doi:10.1016/j.reprotox.2006.08.012 · Cited by 505
Programming of DNA Methylation Patterns
Cedar, H., & Bergman, Y. (2012) · Annual Review of Biochemistry · doi:10.1146/annurev-biochem-052610-091920 · Cited by 447
Blewitt, M. E., Gendrel, A.-V., Pang, Z., Sparrow, D. B., Whitelaw, N., Craig, J. M., Apedaile, A., Hilton, D. J., Dunwoodie, S. L., Brockdorff, N., et al. (2008) · Nature Genetics · doi:10.1038/ng.142 · Cited by 366
Self-citationWutz, A. (2011) · Nature Reviews Genetics · doi:10.1038/nrg3035 · Cited by 361
X chromosome regulation: diverse patterns in development, tissues and disease
Deng, X., Berletch, J. B., Nguyen, D. K., & Distèche, C. M. (2014) · Nature Reviews Genetics · doi:10.1038/nrg3687 · Cited by 316
El‐Maarri, O., Becker, T., Junen, J., Manzoor, S. S., Diaz-Lacava, A. N., Schwaab, R., Wienker, T. F., & Oldenburg, J. (2007) · Human Genetics · doi:10.1007/s00439-007-0430-3 · Cited by 276
van den Boogaard, M. L., Lemmers, R. J. L. F., Balog, J., Wohlgemuth, M., Auranen, M., Mitsuhashi, S., van der Vliet, P. J., Straasheijm, K. R., van den Akker, R. F. P., Kriek, M., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.03.013 · Cited by 267
Intra- and Interindividual Epigenetic Variation in Human Germ Cells
Flanagan, J. M., Popendikytė, V., Pozdniakovaite, N., Sobolev, M., Assadzadeh, A., Schumacher, A., Zangeneh, M., Lau, L. Y. S., Virtanen, C., Wang, S.-C., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/504729 · Cited by 237
Gendrel, A.-V., Apedaile, A., Coker, H. A., Termanis, A., Zvetkova, I., Godwin, J., Tang, A., Huntley, D. M., Montana, G., Taylor, S., et al. (2012) · Developmental Cell · doi:10.1016/j.devcel.2012.06.011 · Cited by 217
Intraclonal Protein Expression Heterogeneity in Recombinant CHO Cells
Pilbrough, W., Munro, T. P., & Gray, P. P. (2009) · PLoS ONE · doi:10.1371/journal.pone.0008432 · Cited by 210
The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1
Sacconi, S., Lemmers, R. J. L. F., Balog, J., van der Vliet, P. J., Lahaut, P., van Nieuwenhuizen, M. P., Straasheijm, K. R., Debipersad, R. D., Vos-Versteeg, M., Salviati, L., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.08.004 · Cited by 191
Trim28 Haploinsufficiency Triggers Bi-stable Epigenetic Obesity
Dalgaard, K., Landgraf, K., Heyne, S., Lempradl, A., Longinotto, J., Gossens, K., Ruf, M., Orthofer, M., Strogantsev, R., Selvaraj, M., et al. (2016) · Cell · doi:10.1016/j.cell.2015.12.025 · Cited by 190
Self-citationHow lifetimes shape epigenotype within and across generations
Whitelaw, N. C., & Whitelaw, E. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl200 · Cited by 185
Self-citationSMCHD1 Merges Chromosome Compartments and Assists Formation of Super-Structures on the Inactive X
Wang, C., Jégu, T., Chu, H.-P. C., Oh, H. J., & Lee, J. T. (2018) · Cell · doi:10.1016/j.cell.2018.05.007 · Cited by 170
Modifiers of epigenetic reprogramming show paternal effects in the mouse
Chong, S., Vickaryous, N., Ashe, A., Zamudio, N., Youngson, N., Hemley, S., Stopka, T., Skoultchi, A., Matthews, J., Scott, H. S., et al. (2007) · Nature Genetics · doi:10.1038/ng2031 · Cited by 166
Self-citationThe case for transgenerational epigenetic inheritance in humans
Morgan, D. K., & Whitelaw, E. (2008) · Mammalian Genome · doi:10.1007/s00335-008-9124-y · Cited by 167
Self-citationShaw, N. D., Brand, H., Kupchinsky, Z. A., Bengani, H., Plummer, L., Jones, T. I., Erdin, S., Williamson, K. A., Rainger, J., Stortchevoi, A., et al. (2017) · Nature Genetics · doi:10.1038/ng.3743 · Cited by 154
Transcriptional Silencing and Reactivation in Transgenic Zebrafish
Goll, M. G., Anderson, R. M., Stainier, D. Y. R., Spradling, A. C., & Halpern, M. E. (2009) · Genetics · doi:10.1534/genetics.109.102079 · Cited by 155
Yurkovetskiy, L., Guney, M. H., Kim, K., Goh, S. L., McCauley, S. M., Dauphin, A., Diehl, W. E., & Luban, J. (2018) · Nature Microbiology · doi:10.1038/s41564-018-0256-x · Cited by 149
Epigenetics and phenotypic variation in mammals
Peaston, A. E., & Whitelaw, E. (2006) · Mammalian Genome · doi:10.1007/s00335-005-0180-2 · Cited by 140
Self-citationJuriloff, D. M., Harris, M. J., McMahon, A. P., Carroll, T. J., & Lidral, A. C. (2006) · Birth Defects Research Part A Clinical and Molecular Teratology · doi:10.1002/bdra.20302 · Cited by 125
Ashe, A., Morgan, D. K., Whitelaw, N. C., Bruxner, T. J., Vickaryous, N. K., Cox, L. L., Butterfield, N. C., Wicking, C., Blewitt, M. E., Wilkins, S. J., et al. (2008) · Genome Biology · doi:10.1186/gb-2008-9-12-r182 · Cited by 117
Self-citationEpigenetic Functions of Smchd1 Repress Gene Clusters on the Inactive X Chromosome and on Autosomes
Gendrel, A.-V., Tang, A., Suzuki, M., Godwin, J., Nesterova, T. B., Greally, J. M., Heard, É., & Brockdorff, N. (2013) · Molecular and Cellular Biology · doi:10.1128/mcb.00145-13 · Cited by 110
Nishibuchi, G., & Déjardin, J. (2017) · Chromosome Research · doi:10.1007/s10577-016-9547-3 · Cited by 120
Genome-wide binding and mechanistic analyses of Smchd1-mediated epigenetic regulation
Chen, K.-L., Hu, J., Moore, D. L., Liu, R., Kessans, S. A., Breslin, K., Lucet, I., Keniry, A., Leong, H. S., Parish, C., et al. (2015) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.1504232112 · Cited by 105
Self-citationMammalian Su(var) Genes in Chromatin Control
Fodor, B. D., Shukeir, N., Reuter, G., & Jenuwein, T. (2010) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev.cellbio.042308.113225 · Cited by 112
Epigenetic regulation in male germ cells
Zamudio, N., Chong, S., & O’Bryan, M. K. (2008) · Reproduction · doi:10.1530/rep-07-0576 · Cited by 104
Mould, A. W., Pang, Z., Pakusch, M., Tonks, I. D., Stark, M. S., Carrie, D., Mukhopadhyay, P., Seidel, A., Ellis, J. J., Deakin, J. E., et al. (2013) · Epigenetics & Chromatin · doi:10.1186/1756-8935-6-19 · Cited by 100
Self-citationSmchd1 regulates long-range chromatin interactions on the inactive X chromosome and at Hox clusters
Jansz, N., Keniry, A., Trussart, M., Bildsoe, H., Beck, T. J., Tonks, I. D., Mould, A. W., Hickey, P. F., Breslin, K. A., Iminitoff, M., et al. (2018) · Nature Structural & Molecular Biology · doi:10.1038/s41594-018-0111-z · Cited by 101
Self-citationThe art and design of genetic screens: mouse
Kile, B. T., & Hilton, D. J. (2005) · Nature Reviews Genetics · doi:10.1038/nrg1636 · Cited by 104
When the Lyon(ized chromosome) roars: ongoing expression from an inactive X chromosome
Carrel, L., & Brown, C. J. (2017) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2016.0355 · Cited by 102
The Genetics and Epigenetics of Facioscapulohumeral Muscular Dystrophy
Himeda, C. L., & Jones, P. L. (2019) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-083118-014933 · Cited by 100
TASOR is a pseudo-PARP that directs HUSH complex assembly and epigenetic transposon control
Douse, C. H., Tchasovnikarova, I. A., Timms, R. T., Protasio, A. V., Seczyńska, M., Prigozhin, D. M., Albecka, A., Wagstaff, J. L., Williamson, J. C., Freund, S. M. V., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-18761-6 · Cited by 111
Developmental Consequences of Sexual Dimorphism During Pre‐implantation Embryonic Development
Gutiérrez‐Adán, A., Perez‐Crespo, M., Fernández‐González, R., Ramirez, M., Moreira, P., Pintado, B., Lonergan, P., & Rizos, D. V. (2006) · Reproduction in Domestic Animals · doi:10.1111/j.1439-0531.2006.00769.x · Cited by 99
Daxinger, L., Harten, S. K., Oey, H., Epp, T. A., Isbel, L., Huang, E., Whitelaw, N. C., Apedaile, A., Sorolla, A., Yong, J., et al. (2013) · Genome biology · doi:10.1186/gb-2013-14-9-r96 · Cited by 96
Self-citationMorgan, H. D., Jin, X. L., Li, A., Whitelaw, E., & O’Neill, C. (2008) · Biology of Reproduction · doi:10.1095/biolreprod.108.068213 · Cited by 89
Self-citationGoll, M. G., & Halpern, M. E. (2011) · Progress in molecular biology and translational science · doi:10.1016/b978-0-12-387685-0.00005-6 · Cited by 91
Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies
Ashe, A., Butterfield, N. C., Town, L., Courtney, A. D., Cooper, A., Ferguson, C., Barry, R. E., Olsson, F., Liem, K. F., Parton, R. G., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/ddr613 · Cited by 87
Self-citationModifier genes and the plasticity of genetic networks in mice
Hamilton, B. A., & Yu, B. D. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002644 · Cited by 78
Brideau, N. J., Coker, H. A., Gendrel, A.-V., Siebert, C. A., Bezstarosti, K., Demmers, J., Poot, R. A., Nesterova, T. B., & Brockdorff, N. (2015) · Molecular and Cellular Biology · doi:10.1128/mcb.00432-15 · Cited by 78
Whitelaw, N. C., Chong, S., Morgan, D. K., Nestor, C. E., Bruxner, T. J. C., Ashe, A., Lambley, E., Meehan, R. R., & Whitelaw, E. (2010) · Genome biology · doi:10.1186/gb-2010-11-11-r111 · Cited by 75
Self-citationSandovici, I., Kassovska‐Bratinova, S., Loredo‐Osti, J. C., Leppert, M., Suarez, A., Stewart, R., Bautista, F. D. M., Schiraldi, M., & Sapienza, C. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi218 · Cited by 75
Epigenetic interactions between transposons and genes: lessons from plants
Weil, C., & Martienssen, R. A. (2008) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2008.01.015 · Cited by 75
Paternal nicotine exposure alters hepatic xenobiotic metabolism in offspring
Vallaster, M., Kukreja, S., Bing, X., Ngolab, J., Zhao-Shea, R., Gardner, P. D., Tapper, A. R., & Rando, O. J. (2017) · eLife · doi:10.7554/elife.24771 · Cited by 75
Juriloff, D. M., & Harris, M. J. (2018) · Journal of Developmental Biology · doi:10.3390/jdb6030022 · Cited by 74
The Use of Mouse Models to Study EpigeneticsPreprint
Blewitt, M., & Whitelaw, E. (2013) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a017939 · Cited by 74
Self-citationThe Epigenetic Regulator SMCHD1 in Development and Disease
Jansz, N., Chen, K., Murphy, J. M., & Blewitt, M. E. (2017) · Trends in Genetics · doi:10.1016/j.tig.2017.01.007 · Cited by 64
Self-citationChromatin and epigenetics in development: blending cellular memory with cell fate plasticity
Cavalli, G. (2006) · Development · doi:10.1242/dev.02402 · Cited by 64
SMCHD1 is involved in de novo methylation of the DUX4 -encoding D4Z4 macrosatellite
Dion, C., Roche, S., Laberthonnìère, C., Broucqsault, N., Mariot, V., Xue, S., Gurzau, A. D., Nowak, A. J., Gordon, C. T., Gaillard, M.-C., et al. (2019) · Nucleic Acids Research · doi:10.1093/nar/gkz005 · Cited by 63
Self-citationDigenic inheritance and Mendelian disease
Lupski, J. R. (2012) · Nature Genetics · doi:10.1038/ng.2479 · Cited by 62
Calle, A., Bedate, A. M., Fernández‐González, R., Pericuesta, E., Laguna‐Barraza, R., & Gutiérrez‐Adán, A. (2012) · Biology of Reproduction · doi:10.1095/biolreprod.112.100743 · Cited by 61
NuRD and CAF-1-mediated silencing of the D4Z4 array is modulated by DUX4-induced MBD3L proteins
Campbell, A. E., Shadle, S. C., Jagannathan, S., Lim, J.-W., Resnick, R., Tawil, R., van der Maarel, S. M., & Tapscott, S. J. (2018) · eLife · doi:10.7554/elife.31023 · Cited by 62
Facioscapulohumeral Muscular Dystrophy
DeSimone, A. M., Pakuła, A., Lek, A., & Emerson, C. P. (2017) · Comprehensive physiology · doi:10.1002/cphy.c160039 · Cited by 67
Juriloff, D. M., & Harris, M. J. (2012) · Birth Defects Research Part A Clinical and Molecular Teratology · doi:10.1002/bdra.23036 · Cited by 60
Telomere chromatin establishment and its maintenance during mammalian development
Tardat, M., & Déjardin, J. (2017) · Chromosoma · doi:10.1007/s00412-017-0656-3 · Cited by 59
The Molecular and Nuclear Dynamics of X-Chromosome InactivationPreprint
Dossin, F., & Heard, É. (2021) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a040196 · Cited by 59
Epigenetic control of variation and stochasticity in metabolic disease
Panzeri, I., & Pospisilik, J. A. (2018) · Molecular Metabolism · doi:10.1016/j.molmet.2018.05.010 · Cited by 50
Metastable epialleles and their contribution to epigenetic inheritance in mammals
Bertozzi, T. M., & Ferguson‐Smith, A. C. (2019) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2019.08.002 · Cited by 50
Lim, J.-W., Snider, L. D., Yao, Z., Tawil, R., van der Maarel, S. M., Rigo, F., Bennett, C. F., Filippova, G. N., & Tapscott, S. J. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv206 · Cited by 49
Strehle, M. M., & Guttman, M. (2020) · Current Opinion in Cell Biology · doi:10.1016/j.ceb.2020.04.009 · Cited by 46
Kelsey, A. D., Yang, C., Leung, D., Minks, J., Dixon-McDougall, T., Baldry, S. E. L., Bogutz, A., Lefebvre, L., & Brown, C. J. (2015) · Genome biology · doi:10.1186/s13059-015-0774-2 · Cited by 45
Himeda, C. L., Jones, T. I., Virbasius, C.-M. A., Zhu, L. J., Green, M. R., & Jones, P. L. (2018) · Molecular Therapy · doi:10.1016/j.ymthe.2018.04.019 · Cited by 45
Precis on forward genetics in mice
Beutler, B., Du, X., & Xia, Y. (2007) · Nature Immunology · doi:10.1038/ni0707-659 · Cited by 44
The first mouse mutants of D14Abb1e (Fam208a) show that it is critical for early development
Harten, S. K., Bruxner, T. J. C., Bharti, V., Blewitt, M. E., Nguyen, T.-M.-T., Whitelaw, E., & Epp, T. A. (2014) · Mammalian Genome · doi:10.1007/s00335-014-9516-0 · Cited by 47
Self-citationEpigenetic Regulator Smchd1 Functions as a Tumor Suppressor
Leong, H. S., Chen, K., Hu, Y., Lee, S. C.-W., Corbin, J. E., Pakusch, M., Murphy, J. M., Majewski, I. J., Smyth, G. K., Alexander, W. S., et al. (2012) · Cancer Research · doi:10.1158/0008-5472.can-12-3019 · Cited by 43
Self-citationSMCHD1 regulates a limited set of gene clusters on autosomal chromosomes
Mason, A. G., Slieker, R. C., Balog, J., Lemmers, R. J. L. F., Wong, C.-J., Yao, Z., Lim, J.-W., Filippova, G. N., Ne, E., Tawil, R., et al. (2017) · Skeletal Muscle · doi:10.1186/s13395-017-0129-7 · Cited by 43
FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function
Gurzau, A. D., Chen, K., Xue, S., Dai, W., Lucet, I. S., Ly, T. T. N., Reversade, B., Blewitt, M. E., & Murphy, J. M. (2018) · Journal of Biological Chemistry · doi:10.1074/jbc.ra118.003104 · Cited by 42
Self-citationIndependent phenotypic plasticity axes define distinct obesity sub-types
Yang, C.-H., Fagnocchi, L., Apostle, S., Wegert, V., Casaní-Galdón, S., Landgraf, K., Panzeri, I., Dror, E., Heyne, S., Wörpel, T., et al. (2022) · Nature Metabolism · doi:10.1038/s42255-022-00629-2 · Cited by 39
Facioscapulohumeral Muscular Dystrophy As a Model for Epigenetic Regulation and Disease
Himeda, C. L., Jones, T. I., & Jones, P. L. (2014) · Antioxidants and Redox Signaling · doi:10.1089/ars.2014.6090 · Cited by 37
Strategies for dissecting epigenetic mechanisms in the mouse
Mager, J., & Bartolomei, M. S. (2005) · Nature Genetics · doi:10.1038/ng1664 · Cited by 39
Position‐effect variegation revisited: HUSHing up heterochromatin in human cells
Timms, R. T., Tchasovnikarova, I. A., & Lehner, P. J. (2016) · BioEssays · doi:10.1002/bies.201500184 · Cited by 40
The epigenetic regulator Smchd1 contains a functional GHKL-type ATPase domain
Chen, K., Dobson, R. C. J., Lucet, I. S., Young, S. N., Pearce, F. G., Blewitt, M. E., & Murphy, J. M. (2016) · Biochemical Journal · doi:10.1042/bcj20160189 · Cited by 33
Self-citationPlamondon, J. A., Harris, M. J., Mager, D. L., Gagnier, L., & Juriloff, D. M. (2011) · Birth Defects Research Part A Clinical and Molecular Teratology · doi:10.1002/bdra.20788 · Cited by 35
Keep quiet: the HUSH complex in transcriptional silencing and disease
Müller, I. I., & Helin, K. (2024) · Nature Structural & Molecular Biology · doi:10.1038/s41594-023-01173-7 · Cited by 40
Mechanistic concepts in X inactivation underlying dosage compensation in mammals
Leeb, M., & Wutz, A. (2010) · Heredity · doi:10.1038/hdy.2009.181 · Cited by 34
Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing
Goossens, R., van den Boogaard, M. L., Lemmers, R. J. L. F., Balog, J., van der Vliet, P. J., Willemsen, I. M., Schouten, J., Maggio, I., van der Stoep, N., Hoeben, R. C., et al. (2019) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2019-106402 · Cited by 34
Mouse Mutagenesis with the Chemical Supermutagen ENU
Probst, F. J., & Justice, M. J. (2010) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/s0076-6879(10)77015-4 · Cited by 33
Isbel, L., Srivastava, R., Oey, H., Spurling, A., Daxinger, L., Puthalakath, H., & Whitelaw, E. (2015) · PLoS Genetics · doi:10.1371/journal.pgen.1005693 · Cited by 35
Self-citationBöhmdorfer, G., Schleiffer, A., Brunmeir, R., Ferscha, S., Nizhynska, V., Kozák, J., Angelis, K. J., Kreil, D. P., & Schweizer, D. (2011) · The Plant Journal · doi:10.1111/j.1365-313x.2011.04604.x · Cited by 33
Sakakibara, Y., Nagao, K., Blewitt, M. E., Sasaki, H., Obuse, C., & Sado, T. (2018) · Development · doi:10.1242/dev.166462 · Cited by 32
Self-citationRoche, S., Dion, C., Broucqsault, N., Laberthonnìère, C., Gaillard, M.-C., Robin, J. D., Lagarde, A., Puppo, F., Vovan, C., Chaix, C., et al. (2019) · Neurology Genetics · doi:10.1212/nxg.0000000000000372 · Cited by 32
In vivo YY1 knockdown effects on genomic imprinting
Kim, J., & Kim, J. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm316 · Cited by 32
Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model
de Greef, J. C., Krom, Y. D., den Hamer, B., Snider, L. D., Hiramuki, Y., van den Akker, R. F. P., Breslin, K. A., Pakusch, M., Salvatori, D. C. F., Slütter, B., et al. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx437 · Cited by 31
Self-citationHow do genes that escape from X‐chromosome inactivation contribute to Turner syndrome?
Peeters, S. B., Korecki, A. J., Baldry, S. E. L., Yang, C., Tosefsky, K. N., Balaton, B. P., Simpson, E. M., & Brown, C. J. (2019) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31672 · Cited by 31
Chen, K., Czabotar, P. E., Blewitt, M. E., & Murphy, J. M. (2016) · Biochemical Journal · doi:10.1042/bj20151049 · Cited by 28
Self-citationThe role of MORC3 in silencing transposable elements in mouse embryonic stem cells
Desai, V. P., Chouaref, J., Wu, H., Pastor, W. A., Kan, R. L., Oey, H., Li, Z., Ho, J., Vonk, K. K. D., León, D. S., et al. (2021) · Epigenetics & Chromatin · doi:10.1186/s13072-021-00420-9 · Cited by 32
van den Boogaard, M. L., Lemmers, R., Camaño, P., van der Vliet, P. J., Voermans, N. C., van Engelen, B. G. M., de Munaín, A. L., Tapscott, S. J., van der Stoep, N., Tawil, R., et al. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.55 · Cited by 29
Wiz binds active promoters and CTCF-binding sites and is required for normal behaviour in the mouse
Isbel, L., Prokopuk, L., Wu, H., Daxinger, L., Oey, H., Spurling, A., Lawther, A. J., Hale, M. W., & Whitelaw, E. (2016) · eLife · doi:10.7554/elife.15082 · Cited by 28
Self-citationUncovering the uncharacterized and unexpected: Unbiased phenotype‐driven screens in the mouse
Caspary, T., & Anderson, K. V. (2006) · Developmental Dynamics · doi:10.1002/dvdy.20853 · Cited by 28
On the relations of phase separation and Hi-C maps to epigenetics
Singh, P. B., & Newman, A. G. (2020) · Royal Society Open Science · doi:10.1098/rsos.191976 · Cited by 27
Mechanistic insights into chromosome-wide silencing in X inactivation
Arthold, S., Kurowski, A., & Wutz, A. (2011) · Human Genetics · doi:10.1007/s00439-011-1002-0 · Cited by 27
Dependency of Heterochromatin Domains on Replication Factors
Jahn, L. J., Mason, B., Brøgger, P., Toteva, T., Nielsen, D. K., & Thon, G. (2017) · G3 Genes Genomes Genetics · doi:10.1534/g3.117.300341 · Cited by 27
del Fierro, A. T., den Hamer, B., Benetti, N., Jansz, N., Chen, K., Beck, T. J., Vanyai, H. K., Gurzau, A. D., Daxinger, L., Xue, S., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-40992-6 · Cited by 26
Self-citationFiner, S., Holland, M. L., Nanty, L., & Rakyan, V. K. (2010) · Environmental and Molecular Mutagenesis · doi:10.1002/em.20590 · Cited by 29
Ho, B., Greenlaw, K., Tuwaijri, A. A., Moussette, S., Martı́nez, F., Giorgio, E., Brusco, A., Ferrero, G. B., Linhares, N. D., Valadares, E. R., et al. (2018) · Biology of Sex Differences · doi:10.1186/s13293-018-0169-7 · Cited by 24
Genome-wide ENU Mutagenesis for the Discovery of Novel Male Fertility Regulators
Jamsai, D., & O’Bryan, M. K. (2010) · Systems Biology in Reproductive Medicine · doi:10.3109/19396361003706424 · Cited by 24
Youngson, N. A., Vickaryous, N. K., van der Horst, A., Epp, T. A., Harten, S. K., Fleming, J. S., Khanna, K. K., de Kretser, D. M., & Whitelaw, E. (2011) · Mammalian Genome · doi:10.1007/s00335-011-9317-7 · Cited by 25
Self-citation
Metadata
- Authors
- Blewitt, M. E., Vickaryous, N. K., Hemley, S. J., Ashe, A., Bruxner, T. J., Preis, J. I., Arkell, R., & Whitelaw, E.
- Affiliations
- The University of Sydney (AU)
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2005-05-12
- Volume
- 102
- Issue
- 21
- Pages
- 7629-7634
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC1140414
- OpenAlex
- W2089778660
- Cited by
- 186
- References
- 37
- Citations by year
- 2026: 1 · 2025: 6 · 2024: 9 · 2023: 4 · 2022: 8 · 2021: 11 · 2020: 5 · 2019: 11 · 2018: 16 · 2017: 17 · 2016: 8 · 2015: 9 · 2014: 6 · 2013: 14 · 2012: 11
- FWCI
- 3.39
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- ANU Open Research (Australian National University) (submittedVersion)
- Funders
- Medical Research Council
- National Health and Medical Research Council (301955)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- 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
- Keywords
- variegation, gene silencing, N-ethyl-N-nitrosourea mutagenesis, GFP transgene, X chromosome inactivation, epigenetic reprogramming, retrotransposon silencing, transposon silencing, embryonic lethality, parent-of-origin effects, penetrance, mouse mutants
- MeSH terms
- Alleles, Animals, Chromosome Mapping, Ethylnitrosourea, Flow Cytometry, Genetic Testing, Mice, Transgenic, Phenotype, Pigmentation, Sex Factors, X Chromosome, Mutagenesis, Transgenes, DNA Methylation, Gene Silencing, Epigenesis, Genetic, Green Fluorescent Proteins, Mice
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
