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Research: Non-Mendelian inheritance patterns and extreme deviation rates of CGG repeats in autism
- Dale J. Annear,
- Geert Vandeweyer,
- Alba Sanchis-Juan,
- F. Lucy Raymond,
- and R. Frank Kooy
Genome Res. November/December 2022 32: 1967-1980; Published in Advance November 9, 2022, doi:10.1101/gr.277011.122
...or neurodevelopmental disorders. Genes including, but not limited to, SKI, NOVA2, ARID1B, DLG3, YY1, SKOR2, and ZIC5 are all examples of prime candidates in which a CGG STR expansion may lead to neurological disease. Evidence has emerged suggesting epigenetic changes as an etiology of ASD, with differential methylation...
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Research: Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging
- Aaron R. Jeffries,
- Reza Maroofian,
- Claire G. Salter,
- Barry A. Chioza,
- Harold E. Cross,
- Michael A. Patton,
- Emma Dempster,
- I. Karen Temple,
- Deborah J.G. Mackay,
- Faisal I. Rezwan,
- Lise Aksglaede,
- Diana Baralle,
- Tabib Dabir,
- Matthew F. Hunter,
- Arveen Kamath,
- Ajith Kumar,
- Ruth Newbury-Ecob,
- Angelo Selicorni,
- Amanda Springer,
- Lionel Van Maldergem,
- Vinod Varghese,
- Naomi Yachelevich,
- Katrina Tatton-Brown,
- Jonathan Mill,
- Andrew H. Crosby,
- and Emma L. Baple
Genome Res. July 2019 29: 1057-1066; Published in Advance June 3, 2019, doi:10.1101/gr.243584.118
.... 2015. The Mendelian disorders of the epigenetic machinery. Genome Res 25: 1473–1481. doi:10.1101/gr.190629.115 ↵Breeze CE, Paul DS, van Dongen J, Butcher LM, Ambrose JC, Barrett JE, Lowe R, Rakyan VK, Iotchkova V, Frontini M, et al. 2016. eFORGE: a tool for identifying cell type-specific signal...
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Research: Coexpression patterns define epigenetic regulators associated with neurological dysfunction
- Leandros Boukas,
- James M. Havrilla,
- Peter F. Hickey,
- Aaron R. Quinlan,
- Hans T. Bjornsson,
- and Kasper D. Hansen
Genome Res. April 2019 29: 532-542; Published in Advance March 11, 2019, doi:10.1101/gr.239442.118
...of the coexpression categories. (B) The percentage of EM genes that are associated with different types of disease; individual disease categories are mutually exclusive. (MDEM) Mendelian disorders of the epigenetic machinery; (Neuro) includes autism, schizophrenia, developmental disorders, and MDEM whose phenotype...
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Research: Neuron-specific chromatin disruption at CpG islands and aging-related regions in Kabuki syndrome mice
- Leandros Boukas,
- Teresa Romeo Luperchio,
- Afrooz Razi,
- Kasper D. Hansen,
- and Hans T. Bjornsson
Genome Res. May 2024 34: 696-710; Published in Advance May 3, 2024, doi:10.1101/gr.278416.123
...basis of neurodevelopment in Mendelian disorders of the epigenetic machinery.The deposition and maintenance of epigenetic marks are fundamental processes underlying development and homeostasis (Jaenisch and Bird 2003; Feinberg 2007; Meissner 2010; Allis and Jenuwein 2016). Reflecting this, the past...
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Review: Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences
- Terence Gall-Duncan,
- Nozomu Sato,
- Ryan K.C. Yuen,
- and Christopher E. Pearson
Genome Res. January 2022 32: 1-27; Published in Advance December 29, 2021, doi:10.1101/gr.269530.120
...in intronic or promoter regions can also result in other human diseases (Fig. 1; Table 1).Some of these repeat disorders exhibited a peculiar set of phenomena from the viewpoint of conventional Mendelian inheritance: “anticipation” (where successive generations show earlier disease onset and more severe...
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Research: Mutagenesis of human genomes by endogenous mobile elements on a population scale
- Nelson T. Chuang,
- Eugene J. Gardner,
- Diane M. Terry,
- Jonathan Crabtree,
- Anup A. Mahurkar,
- Guillermo L. Rivell,
- Charles C. Hong,
- James A. Perry,
- and Scott E. Devine
Genome Res. December 2021 31: 2225-2235; Published in Advance November 12, 2021, doi:10.1101/gr.275323.121
...mobile elements in humans (Kazazian and Moran 2017). FL-L1Hs elements are 6 kb in length and have two open reading frames (ORF1 and ORF2) that encode the protein machinery that is necessary for L1 mobilization. ORF1 encodes a nucleic acid chaperone (Martin et al. 2005), whereas ORF2 encodes...
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Perspective: Enabling functional genomics with genome engineering
- Isaac B. Hilton and
- Charles A. Gersbach
Genome Res. October 2015 25: 1442-1455; doi:10.1101/gr.190124.115
...are also important tools for understanding andmodeling disease. InMendelian disorders, in which single gene products are implicated in disease or development, nuclease-aided disruption or deletion can be used to determine causal relationships between genes and phenotypes (Soldner et al. 2011; Toscano et al...
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Research: BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies
- Guntram Borck,
- Friederike Hög,
- Maria Lisa Dentici,
- Perciliz L. Tan,
- Nadine Sowada,
- Ana Medeira,
- Lucie Gueneau,
- Holger Thiele,
- Maria Kousi,
- Francesca Lepri,
- Larissa Wenzeck,
- Ian Blumenthal,
- Antonio Radicioni,
- Tito Livio Schwarzenberg,
- Barbara Mandriani,
- Rita Fischetto,
- Deborah J. Morris-Rosendahl,
- Janine Altmüller,
- Alexandre Reymond,
- Peter Nürnberg,
- Giuseppe Merla,
- Bruno Dallapiccola,
- Nicholas Katsanis,
- Patrick Cramer,
- and Christian Kubisch
Genome Res. February 2015 25: 155-166; Published in Advance January 5, 2015, doi:10.1101/gr.176925.114
...III–dependent transcription has been linked to cell transformation and cancer (Marshall and White 2008; Cabarcas and Schramm2011), and germlinemutations in components of the Pol III or tRNA processing machinery have been associated with neurogenetic disorders, such as pontocerebellar hypoplasia (PCH...
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Perspective: Insights into neural crest development and evolution from genomic analysis
- Marcos Simões-Costa and
- Marianne E. Bronner
Genome Res. July 2013 23: 1069-1080; doi:10.1101/gr.157586.113
...congenital birth defects and neoplastic diseases are linked to abnormal development of the neural crest development and its derivatives (Hall 1999). Due to its inherent stem cell properties, there is great interest in using these cells in regenerativemedicine to treat disorders like familial dysautonomia...
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REVIEW: The biological effects of simple tandem repeats: Lessons from the repeat expansion diseases
- Karen Usdin
Genome Res. July 2008 18: 1011-1019; doi:10.1101/gr.070409.107
...expansion diseases are a group of human genetic disorders caused by long and highly polymorphic tandem repeats. These disorders provide many examples of the effects that such repeats can have on many biological processes. While repeats in the coding sequence can result in the generation of toxic...

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