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Review: The superpowers of imprinting control regions
- Bertille Montibus,
- Franck Court,
- and Philippe Arnaud
Genome Res. January 2026 36: 1-19; Published in Advance December 10, 2025, doi:10.1101/gr.281215.125
...on whether they are inherited from the mother or the father, so-called imprinted genes.The first imprinted genes to be identified, in 1991, were Igf2r and H19, both maternally expressed (Barlow et al. 1991; Bartolomei et al. 1991), along with the paternally expressed Igf2 gene (DeChiara et al. 1991). Since...
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Chicken Special/Letters: Structural and functional analysis of a 0.5-Mb chicken region orthologous to the imprinted mammalian Ascl2/Mash2–Igf2–H19 region
- Takaaki Yokomine,
- Hisao Shirohzu,
- Wahyu Purbowasito,
- Atsushi Toyoda,
- Hisakazu Iwama,
- Kazuho Ikeo,
- Tetsuya Hori,
- Shigeki Mizuno,
- Masaoki Tsudzuki,
- Yoh-ichi Matsuda,
- Masahira Hattori,
- Yoshiyuki Sakaki,
- and Hiroyuki Sasaki
Genome Res. January 2005 15: 154-165; Published in Advance December 8, 2004, doi:10.1101/gr.2609605
...tissue-specific enhancer activities ( Ishihara et al. 2000 ). In fact, two were identical with the previously reported endoderm-specific enhancers shared by Igf2 and H19 ( Leighton et al. 1995b ). Although we attempted to identify sequences similar to the enhancers in the chicken IGF2–MRPL23/L23MRP...
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REVIEW: Imprinting Mechanisms
- Miguel Constância,
- Benjamin Pickard,
- Gavin Kelsey,
- and Wolf Reik
Genome Res. September 1, 1998 8: 881-900; doi:10.1101/gr.8.9.881
...with the paternal Igf2 promoter (long arrow). Proper imprinting at the Igf2/H19 loci seems, therefore, to depend on promoter competition for the downstream H19 enhancers. An imprinted antisense RNA has also been found to overlap the maternally expressed UBE3A gene and is thought to regulate tissue specificity...
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LETTER: Domain Regulation of Imprinting Cluster in Kip2/Lit1 Subdomain on Mouse Chromosome 7F4/F5: Large-Scale DNA Methylation Analysis Reveals That DMR-Lit1 Is a Putative Imprinting Control Region
- Hitomi Yatsuki,
- Keiichiro Joh,
- Ken Higashimoto,
- Hidenobu Soejima,
- Yuji Arai,
- Youdong Wang,
- Izuho Hatada,
- Yayoi Obata,
- Hiroko Morisaki,
- Zhongming Zhang,
- Tetsuji Nakagawachi,
- Yuji Satoh,
- and Tsunehiro Mukai
Genome Res. December 1, 2002 12: 1860-1870; doi:10.1101/gr.110702
..., where the imprinting domain is located, is syntenic to human 11p15.5, the locus for Beckwith-Wiedemann syndrome. The domain is thought to consist of the two subdomains Kip2 (p57kip2)/Lit1 and Igf2/H19. Because DNA methylation is believed to be a key factor in genomic imprinting, we performed large...
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LETTER: Evolution of the mammalian transcription factor binding repertoire via transposable elements
- Guillaume Bourque,
- Bernard Leong,
- Vinsensius B. Vega,
- Xi Chen,
- Yen Ling Lee,
- Kandhadayar G. Srinivasan,
- Joon-Lin Chew,
- Yijun Ruan,
- Chia-Lin Wei,
- Huck Hui Ng,
- and Edison T. Liu
Genome Res. November 2008 18: 1752-1762; Published in Advance August 5, 2008, doi:10.1101/gr.080663.108
...on the wing: cis -regulatory evolution and the origin of pigment patterns in Drosophila . Nature 433 : 481 – 487 . ↵ Hark, A.T. , Schoenherr, C.J. , Katz, D.J. , Ingram, R.S. , Levorse, J.M. , Tilghman, S.M. ( 2000 ) CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus . Nature...
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Method: Chromatin and sequence features that define the fine and gross structure of genomic methylation patterns
- John R. Edwards,
- Anne H. O'Donnell,
- Robert A. Rollins,
- Heather E. Peckham,
- Clarence Lee,
- Maria H. Milekic,
- Benjamin Chanrion,
- Yutao Fu,
- Tao Su,
- Hanina Hibshoosh,
- Jay A. Gingrich,
- Fatemeh Haghighi,
- Robert Nutter,
- and Timothy H. Bestor
Genome Res. July 2010 20: 972-980; Published in Advance May 20, 2010, doi:10.1101/gr.101535.109
..., 20 and 22. Nat Genet 38: 1378–1382. Hark AT, Schoenherr CJ, Katz DJ, Ingram RS, Levorse JM, Tilghman SM. 2000. CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus. Nature 405: 486–489. Heintzman ND, Hon GC, Hawkins RD, Kheradpour P, Stark A, Harp LF, Ye Z, Lee LK...
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LETTER: Long-range DNase I hypersensitivity mapping reveals the imprinted Igf2r and Air promoters share cis-regulatory elements
- Florian M. Pauler,
- Stefan H. Stricker,
- Katarzyna E. Warczok,
- and Denise P. Barlow
Genome Res. October 2005 15: 1379-1387; doi:10.1101/gr.3783805
...nervous system. Biochem. Biophys. Res. Commun. 257 : 604 -608. ↵ Ishihara, K., Hatano, N., Furuumi, H., Kato, R., Iwaki, T., Miura, K., Jinno, Y., and Sasaki, H. 2000 . Comparative genomic sequencing identifies novel tissue-specific enhancers and sequence elements for methylation-sensitive factors...
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LETTER: Human and Mouse α-Synuclein Genes: Comparative Genomic Sequence Analysis and Identification of a Novel Gene Regulatory Element
- Jeffrey W. Touchman,
- Anindya Dehejia,
- Ornit Chiba-Falek,
- Deborah E. Cabin,
- Jody R. Schwartz,
- Bonnie M. Orrison,
- Mihael H. Polymeropoulos,
- and Robert L. Nussbaum
Genome Res. January 1, 2001 11: 78-86; doi:10.1101/gr.165801
.../α-synuclein polymorphism in Alzheimer's disease: An association study. Ann. Neurol. 44 : 278 – 281 . ↵ Ishihara K. , Hatano N. , Furuumi H. , Kato R. , Iwaki T. , Miura K. , Jinno Y. , Sasaki H. ( 2000 ) Comparative genomic sequencing identifies novel tissue-specific enhancers and sequence elements for methylation-sensitive...
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Mini-Review: Evolution of genome-wide methylation profiling technologies
- Carolina Montano and
- Winston Timp
Genome Res. April 2025 35: 572-582; doi:10.1101/gr.278407.123
...diagnostic yield (Mastrorosa et al. 2023), LRS could provide a clear path forward. Here, we focus on diagnostic applications of haplotype-aware methylation analysis:Imprinting disordersGenomic imprinting refers to the parent-of-origin specific expression of genes; the classic example is the H19/IGF2 locus...
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Chicken Special/Letters: Evolution of the Beckwith-Wiedemann syndrome region in vertebrates
- Martina Paulsen,
- Tarang Khare,
- Christopher Burgard,
- Sascha Tierling,
- and Jörn Walter
Genome Res. January 2005 15: 146-153; Published in Advance December 8, 2004, doi:10.1101/gr.2689805
...tissue-specific enhancers and sequence elements for methylation-sensitive factors implicated in Igf2/H19 imprinting. Genome Res. 10 : 664 -671. ↵ John, R.M., Ainscough, J.F., Barton, S.C., and Surani, M.A. 2001 . Distant cis -elements regulate imprinted expression of the mouse p57(Kip2) (Cdkn1c) gene...

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