YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction
Open accessAbstract
Yin and yang 1 (YY1) is a well-known zinc-finger transcription factor with crucial roles in normal development and malignancy. YY1 acts both as a repressor and as an activator of gene expression. We have identified 23 individuals with de novo mutations or deletions of YY1 and phenotypic features that define a syndrome of cognitive impairment, behavioral alterations, intrauterine growth restriction, feeding problems, and various congenital malformations. Our combined clinical and molecular data define "YY1 syndrome" as a haploinsufficiency syndrome. Through immunoprecipitation of YY1-bound chromatin from affected individuals' cells with antibodies recognizing both ends of the protein, we show that YY1 deletions and missense mutations lead to a global loss of YY1 binding with a preferential retention at high-occupancy sites. Finally, we uncover a widespread loss of H3K27 acetylation in particular on the YY1-bound enhancers, underscoring a crucial role for YY1 in enhancer regulation. Collectively, these results define a clinical syndrome caused by haploinsufficiency of YY1 through dysregulation of key transcriptional regulators.
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Several master regulators are themselves causative genes of intellectual disability syndromes with neurocristopathic involvement, as in Gabriele-de Vries syndrome caused by YY1 haploinsufficiency.
“several of which are themselves causative genes of intellectual disability syndromes with neurocristopathic involvement, as in the case of our recently identified Gabriele–de Vries syndrome caused by YY1 haploinsufficiency (31, 32).”
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YY1 Is a Structural Regulator of Enhancer-Promoter Loops
Weintraub, A. S., Li, C. H., Zamudio, A. V., Sigova, A. A., Hannett, N. M., Day, D. S., Abraham, B. J., Cohen, M. A., Nabet, B., Buckley, D. L., et al. (2017) · Cell · doi:10.1016/j.cell.2017.11.008 · Cited by 992 · see citing works
Cheroni, C., Caporale, N., & Testa, G. (2020) · Molecular Autism · doi:10.1186/s13229-020-00370-1 · Cited by 268 · see citing works
The Why of YY1: Mechanisms of Transcriptional Regulation by Yin Yang 1
Verheul, T. C. J., van Hijfte, L., Perenthaler, E., & Barakat, T. S. (2020) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2020.592164 · Cited by 197 · see citing works
The Two Sides of YY1 in Cancer: A Friend and a Foe
Sarvagalla, S., Kolapalli, S. P., & Vallabhapurapu, S. (2019) · Frontiers in Oncology · doi:10.3389/fonc.2019.01230 · Cited by 174 · see citing works
YY1 regulates cancer cell immune resistance by modulating PD-L1 expression
Hays, E., & Bonavida, B. (2019) · Drug Resistance Updates · doi:10.1016/j.drup.2019.04.001 · Cited by 144 · see citing works
Beagan, J. A., Pastuzyn, E. D., Fernandez, L. R., Guo, M. H., Feng, K., Titus, K. R., Chandrashekar, H., Shepherd, J. D., & Phillips-Cremins, J. E. (2020) · Nature Neuroscience · doi:10.1038/s41593-020-0634-6 · Cited by 143 · see citing works
Mossink, B., Negwer, M., Schubert, D., & Nadif Kasri, N. (2021) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-020-03714-5 · Cited by 114 · see citing works
Gabriele, M., Lopez Tobon, A., D'Agostino, G., & Testa, G. (2018) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2017.12.013 · Cited by 103 · see citing works
Self-citationZanella, M., Vitriolo, A., Andirko, A., Martins, P. T., Sturm, S., O’Rourke, T., Laugsch, M., Malerba, N., Skaros, A., Trattaro, S., et al. (2019) · Science Advances · doi:10.1126/sciadv.aaw7908 · Cited by 101 · see citing works
Genetics and Pathogenesis of Dystonia
Thomsen, M., Lange, L. M., Zech, M., & Lohmann, K. (2023) · Annual Review of Pathology Mechanisms of Disease · doi:10.1146/annurev-pathmechdis-051122-110756 · Cited by 99 · see citing works
Tracking and interpreting long-range chromatin interactions with super-resolution live-cell imaging
Brandão, H. B., Gabriele, M., & Hansen, A. S. (2021) · Current Opinion in Cell Biology · doi:10.1016/j.ceb.2020.11.002 · Cited by 77 · see citing works
Perenthaler, E., Yousefi, S., Niggl, E., & Barakat, T. S. (2019) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2019.00352 · Cited by 71 · see citing works
Genomic Enhancers in Brain Health and Disease
Carullo, N. V. N., & Day, J. J. (2019) · Genes · doi:10.3390/genes10010043 · Cited by 66 · see citing works
Varum, S., Baggiolini, A., Zurkirchen, L., Atak, Z. K., Cantù, C., Marzorati, E., Bossart, R., Wouters, J., Häusel, J., Tuncer, E., et al. (2019) · Cell Stem Cell · doi:10.1016/j.stem.2019.03.011 · Cited by 65 · see citing works
Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk
Reshef, Y. A., Finucane, H. K., Kelley, D. R., Gusev, A., Kotliar, D., Ulirsch, J. C., Hormozdiari, F., Nasser, J., O’Connor, L., van de Geijn, B., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0196-7 · Cited by 68 · see citing works
Interpreting the impact of noncoding structural variation in neurodevelopmental disorders
D’haene, E., & Vergult, S. (2020) · Genetics in Medicine · doi:10.1038/s41436-020-00974-1 · Cited by 59 · see citing works
The Genetic Basis of Delayed Puberty
Howard, S. R., & Dunkel, L. (2017) · Neuroendocrinology · doi:10.1159/000481569 · Cited by 62 · see citing works
Rahman, M. R., Petralia, M. C., Ciurleo, R., Bramanti, A., Fagone, P., Shahjaman, M., Wu, L., Sun, Y., Turanlı, B., Arğa, K. Y., et al. (2020) · Brain Sciences · doi:10.3390/brainsci10100747 · Cited by 62 · see citing works
Molecular networks of the FOXP2 transcription factor in the brain
den Hoed, J., Devaraju, K., & Fisher, S. E. (2021) · EMBO Reports · doi:10.15252/embr.202152803 · Cited by 62 · see citing works
Lao, Z., Chen, Y., Tang, Y., & Wei, G. (2019) · ACS Chemical Neuroscience · doi:10.1021/acschemneuro.9b00393 · Cited by 63 · see citing works
Estruch, S. B., Graham, S. A., Quevedo, M., Vino, A., Dekkers, D. H. W., Deriziotis, P., Sollis, E., Demmers, J., Poot, R. A., & Fisher, S. E. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy035 · Cited by 63 · see citing works
Larizza, L., & Finelli, P. (2018) · Clinical Genetics · doi:10.1111/cge.13365 · Cited by 57 · see citing works
The Genetic Basis of Delayed Puberty
Howard, S. R. (2019) · Frontiers in Endocrinology · doi:10.3389/fendo.2019.00423 · Cited by 59 · see citing works
The DYT6 Dystonia Protein THAP1 Regulates Myelination within the Oligodendrocyte Lineage
Yellajoshyula, D., Liang, C.-C., Pappas, S. S., Penati, S., Yang, A. Y., Mecano, R., Kumaran, R., Jou, S., Cookson, M. R., & Dauer, W. T. (2017) · Developmental Cell · doi:10.1016/j.devcel.2017.06.009 · Cited by 55 · see citing works
Yang, W., Li, Z., Qin, R., Wang, X., An, H., Wang, Y., Zhu, Y., Liu, Y., Cai, S., Chen, S., et al. (2019) · Frontiers in Oncology · doi:10.3389/fonc.2019.01187 · Cited by 56 · see citing works
Epigenetic regulation of autophagy-related genes: Implications for neurodevelopmental disorders
Lewerissa, E., Kasri, N. N., & Linda, K. (2023) · Autophagy · doi:10.1080/15548627.2023.2250217 · Cited by 53 · see citing works
Enhancer–promoter specificity in gene transcription: molecular mechanisms and disease associations
Friedman, M. J., Wagner, T., Lee, H., Rosenfeld, M. G., & Oh, S. (2024) · Experimental & Molecular Medicine · doi:10.1038/s12276-024-01233-y · Cited by 64 · see citing works
Yin Yang 1 sustains biosynthetic demands during brain development in a stage-specific manner
Zurkirchen, L., Varum, S., Giger, S., Klug, A., Häusel, J., Bossart, R., Zemke, M., Cantù, C., Atak, Z. K., Zamboni, N., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-09823-5 · Cited by 52 · see citing works
Takahashi, Y., Date, H., Oi, H., Adachi, T., Imanishi, N., Kimura, E., Takizawa, H., Kosugi, S., Matsumoto, N., Kosaki, K., et al. (2022) · Journal of Human Genetics · doi:10.1038/s10038-022-01025-0 · Cited by 49 · see citing works
Genetic Dystonias: Update on Classification and New Genetic Discoveries
Sarmiento, I. J. K., & Mencacci, N. E. (2021) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-021-01095-1 · Cited by 49 · see citing works
Emerging and converging molecular mechanisms in dystonia
González-Latapí, P., Marotta, N., & Mencacci, N. E. (2021) · Journal of Neural Transmission · doi:10.1007/s00702-020-02290-z · Cited by 48 · see citing works
Barbagiovanni, G., Germain, P., Zech, M., Atashpaz, S., Riso, P. L., D’Antonio‐Chronowska, A., Tenderini, E., Caiazzo, M., Boesch, S., Jech, R., et al. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.09.067 · Cited by 47 · see citing works
Developmental basis of trachea-esophageal birth defects
Edwards, N. A., Shacham-Silverberg, V., Weitz, L., Kingma, P. S., Shen, Y., Wells, J. M., Chung, W. K., & Zorn, A. M. (2021) · Developmental Biology · doi:10.1016/j.ydbio.2021.05.015 · Cited by 38 · see citing works
Kwon, D. Y., Xu, B., Zhao, Y.-T., Beagan, J. A., Beagan, J. A., Cui, Y., Xu, B., Zaitseva, D., Phillips‐Cremins, J. E., Blendy, J. A., et al. (2022) · Nature Communications · doi:10.1038/s41467-021-27571-3 · Cited by 38 · see citing works
Roles Played by YY1 in Embryonic, Adult and Cancer Stem Cells
Martinez‐Ruíz, G. U., Morales‐Sánchez, A., & Pacheco-Hernandez, A. F. (2021) · Stem Cell Reviews and Reports · doi:10.1007/s12015-021-10151-9 · Cited by 36 · see citing works
Hsieh, T.-H. S., Cattoglio, C., Slobodyanyuk, E., Hansen, A. S., Darzacq, X., & Tjian, R. (2021) · doi:10.1101/2021.07.14.452365 · Cited by 42 · see citing works
Thongkorn, S., Kanlayaprasit, S., Kasitipradit, K., Lertpeerapan, P., Panjabud, P., Hu, V. W., Jindatip, D., & Sarachana, T. (2023) · Biology of Sex Differences · doi:10.1186/s13293-023-00496-w · Cited by 33 · see citing works
Frints, S. G. M., Ozantürk, A., Criado, G. R., Grasshoff, U., de Hoon, B., Field, M. J., Manouvrier‐Hanu, S., Hickey, S. E., Kammoun, M., Gripp, K. W., et al. (2018) · Molecular Psychiatry · doi:10.1038/s41380-018-0065-x · Cited by 32 · see citing works
Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele‐de Vries syndrome)
Carminho‐Rodrigues, M. T., Steel, D., de Sousa, S. B., Brandt, G. A., Guipponi, M., Laurent, S., Fokstuen, S., Moren, A., Zacharia, A., Dirren, E., et al. (2020) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61731 · Cited by 32 · see citing works
Fakler, F., Aykutlu, U., Brčić, L., Eidenhammer, S., Thueringer, A., Kashofer, K., Kulka, J., Timens, W., & Popper, H. (2019) · Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · doi:10.1007/s00428-019-02732-4 · Cited by 31 · see citing works
Evolution of Regulated Transcription
Bylino, O. V., Ibragimov, A. N., & Shidlovskii, Y. V. (2020) · Cells · doi:10.3390/cells9071675 · Cited by 31 · see citing works
Luo, X., Schoch, K., Jangam, S. V., Bhavana, V. H., Graves, H. K., Kansagra, S. M., Jasien, J., Stong, N., Keren, B., Mignot, C., et al. (2021) · Human Molecular Genetics · doi:10.1093/hmg/ddab110 · Cited by 29 · see citing works
Yousefi, S., Deng, R., Lanko, K., Salsench, E. M., Nikoncuk, A., van der Linde, H. C., Perenthaler, E., van Ham, T. J., Mulugeta, E., & Barakat, T. S. (2021) · Genome Medicine · doi:10.1186/s13073-021-00980-1 · Cited by 25 · see citing works
Dual Role of YY1 in HPV Life Cycle and Cervical Cancer Development
Warowicka, A., Broniarczyk, J. K., Węglewska, M., Kwaśniewski, W. M., & Goździcka‐Józefiak, A. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23073453 · Cited by 29 · see citing works
Molecular and clinical studies in 8 patients with Temple syndrome
Gillessen‐Kaesbach, G., Albrecht, B., Eggermann, T., Elbracht, M., Mitter, D., Morlot, S., van Ravenswaaij‐Arts, C. M. A., Schulz, S., Strobl‐Wildemann, G., Buiting, K., et al. (2018) · Clinical Genetics · doi:10.1111/cge.13244 · Cited by 28 · see citing works
Shwab, E. K., Gingerich, D. C., Man, Z., Gamache, J., Garrett, M. E., Crawford, G. E., Ashley‐Koch, A. E., Serrano, G. E., Beach, T. G., Lutz, M. W., et al. (2024) · Acta Neuropathologica Communications · doi:10.1186/s40478-024-01803-1 · Cited by 27 · see citing works
Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene
van der Schoot, V., de Munnik, S., Venselaar, H., Elting, M. W., Mancini, G. M. S., van Ravenswaaij‐Arts, C. M. A., Anderlid, B., Brunner, H. G., & Stevens, S. J. C. (2018) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.387 · Cited by 26 · see citing works
Ciuba, K., Piotrowska, A., Chaudhury, D., Dehingia, B., Duński, E., Behr, R., Soroczyńska, K., Czystowska-Kuźmicz, M., Abbas, M., Bulanda, E., et al. (2025) · Cell Stem Cell · doi:10.1016/j.stem.2024.12.011 · Cited by 25 · see citing works
Morales‐Rosado, J. A., Kaiwar, C., Smith, B. E., Klee, E. W., & Dhamija, R. (2018) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.40626 · Cited by 25 · see citing works
YY1 ‐Related Dystonia: Clinical Aspects and Long‐Term Response to Deep Brain Stimulation
Zorzi, G. S., Sarmiento, I. J. K., Danti, F. R., Bustos, B. I., Invernizzi, F., Panteghini, C., Reale, C., Garavaglia, B., Chiapparini, L., Lubbe, S. J., et al. (2021) · Movement Disorders · doi:10.1002/mds.28547 · Cited by 25 · see citing works
Khan, K., Zech, M., Morgan, A. T., Amor, D. J., Škorvánek, M., Khan, T. N., Hildebrand, M. S., Jackson, V. E., Scerri, T. S., Coleman, M., et al. (2019) · Genetics in Medicine · doi:10.1038/s41436-019-0523-0 · Cited by 23 · see citing works
Dong, X., & Kwan, K. M. (2020) · Molecular Brain · doi:10.1186/s13041-020-00643-z · Cited by 22 · see citing works
Ying Yang 1 engagement in brain pathology
Pabian, S., Bragiel-Pieczonka, A. M., & Rylski, M. (2022) · Journal of Neurochemistry · doi:10.1111/jnc.15594 · Cited by 22 · see citing works
Turan, S., Boerstler, T., Kavyanifar, A., Loskarn, S., Reis, A., Winner, B., & Lie, D. C. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz089 · Cited by 22 · see citing works
Fencková, M., Muha, V., Mariappa, D., Catinozzi, M., Czajewski, I., Blok, L. E. R., Ferenbach, A. T., Storkebaum, E., Schenck, A., & van Aalten, D. M. F. (2022) · PLoS Genetics · doi:10.1371/journal.pgen.1010159 · Cited by 23 · see citing works
Dingemans, A. J. M., Stremmelaar, D. E., Vissers, L. E. L. M., Jansen, S., Sá, M. J. N., van Remortele, A., Jonis, N., Truijen, K. M. G., van de Ven, S., Ewals, J., et al. (2021) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62057 · Cited by 21 · see citing works
Chromatin Alterations in Neurological Disorders and Strategies of (Epi)Genome Rescue
Janowski, M., Milewska, M., Zare, P., & Pękowska, A. (2021) · Pharmaceuticals · doi:10.3390/ph14080765 · Cited by 21 · see citing works
Su, G., Guo, D., Chen, J., Liu, M., Zheng, J., Wang, W., Zhao, X., Yin, Q., Zhang, L., Zhao, Z., et al. (2019) · Nucleic Acids Research · doi:10.1093/nar/gkz482 · Cited by 20 · see citing works
Tan, L., Li, Y., Liu, F., Huang, Y., Luo, S., Zhao, P., Gu, W., Lin, J., Zhou, A., & He, X. (2020) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1582 · Cited by 17 · see citing works
Baumann, H., Ott, F., Weber, J., Trilck, M., Münchau, A. M., Zittel, S., Kostić, V., Kaiser, F. J., Klein, C., Busch, H. S., et al. (2021) · Movement Disorders · doi:10.1002/mds.28506 · Cited by 17 · see citing works
Khamirani, H. J., Zoghi, S., Namdar, Z. M., Kamal, N., Dianatpour, M., Tabei, K., Mohammadi, S., Dehghanian, F., Farbood, Z., & Dastgheib, S. A. (2021) · Annals of Human Genetics · doi:10.1111/ahg.12448 · Cited by 17 · see citing works
DNA methylation episignature in Gabriele-de Vries syndrome
Cherik, F., Reilly, J., Kerkhof, J., Levy, M. A., McConkey, H., Barat‐Houari, M., Butler, K. M., Coubes, C., Lee, J. A., Guyader, G. L., et al. (2022) · Genetics in Medicine · doi:10.1016/j.gim.2021.12.003 · Cited by 16 · see citing works
Miclea, D., Oșan, S., Bucerzan, S., Ștefan, D., Popp, R. A., Mager, M., Puiu, M., Zimbru, C. G., Chiriță-Emandi, A., & Alkhzouz, C. (2022) · The Italian Journal of Pediatrics/Italian journal of pediatrics · doi:10.1186/s13052-022-01397-1 · Cited by 16 · see citing works
A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding
Yellajoshyula, D., Rogers, A. E., Kim, A. J., Kim, S., Pappas, S. S., & Dauer, W. T. (2021) · Human Molecular Genetics · doi:10.1093/hmg/ddab310 · Cited by 16 · see citing works
Neurodevelopmental functions of CHD8: new insights and questions
Basson, M. A. (2024) · Biochemical Society Transactions · doi:10.1042/bst20220926 · Cited by 17 · see citing works
Celauro, E., Carra, S., Rodriguez, A., Cotelli, F., & Dimitri, P. (2017) · Experimental Cell Research · doi:10.1016/j.yexcr.2017.10.022 · Cited by 14 · see citing works
Untangling neurodevelopmental disorders in the adulthood: a movement disorder is the clue
Indelicato, E., Zech, M., Amprosi, M., & Boesch, S. (2022) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-022-02218-8 · Cited by 13 · see citing works
The value of genome-wide analysis in craniosynostosis
Topa, A., Rohlin, A., Fehr, A., Lovmar, L., Stenman, G., Tarnow, P., Maltese, G., Bhatti-Søfteland, M., & Kölby, L. (2024) · Frontiers in Genetics · doi:10.3389/fgene.2023.1322462 · Cited by 14 · see citing works
Cirillo, E., Prencipe, M. R., Giardino, G., Romanò, R., Scalia, G., Genesio, R., Nitsch, L., & Pignata, C. (2020) · The Journal of Allergy and Clinical Immunology In Practice · doi:10.1016/j.jaip.2020.06.051 · Cited by 13 · see citing works
dos Santos, S. R., Piergiorge, R. M., Rocha, J., Abdala, B. B., Gonçalves, A. P., Pimentel, M. M. G., & Santos-Rebouças, C. B. (2022) · Metabolic Brain Disease · doi:10.1007/s11011-022-01024-2 · Cited by 12 · see citing works
The non-coding genome in genetic brain disorders: new targets for therapy?
Salsench, E. M., Karkala, F., Lanko, K., & Barakat, T. S. (2021) · Essays in Biochemistry · doi:10.1042/ebc20200121 · Cited by 11 · see citing works
Nataf, S., Uriagereka, J., & Benítez‐Burraco, A. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00321 · Cited by 12 · see citing works
Epigenetics and Pharmacoepigenetics of Neurodevelopmental and Neuropsychiatric Disorders
Cacabelos, R. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-813939-4.00022-x · Cited by 11 · see citing works
The enhancer module of Integrator controls cell identity and early neural fate commitment
Zhang, Y., Hill, C., Leach, K. A., Grillini, L., Deliard, S., Offley, S. R., Gatto, M., Picone, F. J., Zucco, A. J., & Gardini, A. (2024) · Nature Cell Biology · doi:10.1038/s41556-024-01556-y · Cited by 10 · see citing works
First Reported Case of Gabriele-de Vries Syndrome with Spinal Dysraphism
Koruga, N., Pušeljić, S., Babić, M., Ćuk, M., Roić, A. C., Vrtarić, V., Koruga, A. S., Rončević, A., Tomac, V., Rotim, T., et al. (2023) · Children · doi:10.3390/children10040623 · Cited by 10 · see citing works
Assessing the dynamics and macromolecular interactions of the intrinsically disordered protein YY1
Donald, H., Blane, A., Buthelezi, S. G., Naicker, P., Stoychev, S., Majakwara, J., & Fanucchi, S. (2023) · Bioscience Reports · doi:10.1042/bsr20231295 · Cited by 10 · see citing works
Location, location, location: nuclear structure regulates gene expression in neurons
Brookes, E., & Riccio, A. (2019) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2019.03.009 · Cited by 9 · see citing works
Gabriele, M., Vitriolo, A., Cuvertino, S., Pereira, M. F., Franconi, C., Germain, P., Capocefalo, D., Castaldi, D., Tenderini, E., Bèchet, N. B., et al. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.04.22.440945 · Cited by 10 · see citing works
Zinc Ions Modulate YY1 Activity: Relevance in Carcinogenesis
Figiel, M., Górka, A. K., & Górecki, A. (2023) · Cancers · doi:10.3390/cancers15174338 · Cited by 9 · see citing works
Clinical analysis of Gabriele‐de Vries caused by YY1 mutations and literature review
Yang, J., Yu, C., Lyn, N., Liu, L., Li, D., & Shang, Q. (2023) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.2281 · Cited by 9 · see citing works
Mutated MITF-E87R in Melanoma Enhances Tumor Progression via S100A4
Nordlinger, A., Dror, S., ELKAHLOUN, A. G., Rio, J. D., Stubbs, E., Golan, T., Malcov, H., Prickett, T. D., Cronin, J. C., Parikh, S., et al. (2018) · Journal of Investigative Dermatology · doi:10.1016/j.jid.2018.03.1524 · Cited by 9 · see citing works
From enhanceropathies to the epigenetic manifold underlying human cognition
Vitriolo, A., Gabriele, M., & Testa, G. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz196 · Cited by 9 · see citing works
YY1 : A New Gene for Childhood Onset Dystonia with Prominent Oromandibular‐Laryngeal Involvement?
Ferng, A., Thulin, P. C., Walsh, E. H., Weissbrod, P. A., & Friedman, J. (2021) · Movement Disorders · doi:10.1002/mds.28813 · Cited by 9 · see citing works
Hou, K., & Zheng, X. (2024) · Genes · doi:10.3390/genes15091118 · Cited by 8 · see citing works
A Case of YY1 ‐Related Isolated Dystonia with Severe Oromandibular Involvement
Malaquias, M. J., Damásio, J., Mendes, A., Freixo, J. P., & Magalhães, M. (2021) · Movement Disorders · doi:10.1002/mds.28771 · Cited by 8 · see citing works
Balakrishnan, S., & Ranganath, P. (2021) · Clinical Dysmorphology · doi:10.1097/mcd.0000000000000385 · Cited by 8 · see citing works
Yin Yang 1: Function, Mechanisms, and Glia
Rodríguez-Campuzano, A. G., Castelán, F., Hernández‐Kelly, L. C., Felder‐Schmittbuhl, M., & Ortega, A. (2025) · Neurochemical Research · doi:10.1007/s11064-025-04345-7 · Cited by 7 · see citing works
Pereira, M. F., Finazzi, V., Rizzuti, L., Aprile, D., Aiello, V., Mollica, L., Riva, M., Soriani, C., Dossena, F., Shyti, R., et al. (2025) · Molecular Psychiatry · doi:10.1038/s41380-025-02929-x · Cited by 8 · see citing works
Han, J. Y., & Park, J. (2021) · Genes · doi:10.3390/genes12091388 · Cited by 7 · see citing works
Garg, P., Jamal, F., & Srivastava, P. (2022) · IBRO Neuroscience Reports · doi:10.1016/j.ibneur.2022.10.005 · Cited by 8 · see citing works
On the identification of differentially-active transcription factors from ATAC-seq data
Gerbaldo, F. E., Sonder, E., Fischer, V., Frei, S., Wang, J., Gapp, K., Robinson, M. D., & Germain, P. (2024) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1011971 · Cited by 7 · see citing works
HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders
Oquendo, C. J., Ferraro, F., Wai, H. A., Ferrao, H., van der Linde, H., Karelioti, E., Tseng, L., Dhillon, H., Holt, S., Bunyan, D. J., et al. (2026) · European Journal of Human Genetics · doi:10.1038/s41431-026-02042-9 · Cited by 6 · see citing works
Identification of the DNA methylation signature of Mowat-Wilson syndrome
Caraffi, S. G., van der Laan, L., Rooney, K., Trajkova, S., Zuntini, R., Relator, R., Haghshenas, S., Levy, M. A., Baldo, C., Mandrile, G., et al. (2024) · European Journal of Human Genetics · doi:10.1038/s41431-024-01548-4 · Cited by 6 · see citing works
Luo, C., Wen, E., Liu, Y., Wang, H., Jia, B., Chen, L., Wu, X., Qian, G., Wen, H., Li, S., et al. (2024) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.70016 · Cited by 6 · see citing works
Epigenetic Regulation and Neurodevelopmental Disorders: From MeCP2 to the TCF20/PHF14 Complex
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A 14q distal chromoanagenesis elucidated by whole genome sequencing
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Heterozygous YY1 mutation – A mimicker of SGCE-myoclonus-dystonia
Chawla, T., Kumar, N. K., & Goyal, V. (2023) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2023.105846 · Cited by 6 · see citing works
Genetic regulation in pubertal delay
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- Authors
- Gabriele, M., Vulto-van Silfhout, A. T., Germain, P.-L., Vitriolo, A., Kumar, R., Douglas, E., Haan, E., Kosaki, K., Takenouchi, T., Rauch, A., Steindl, K., Frengen, E., Misceo, D., Pedurupillay, C. R. J., Stromme, P., Rosenfeld, J. A., Shao, Y., Craigen, W. J., Schaaf, C. P., Rodriguez-Buritica, D., Farach, L., Friedman, J., Thulin, P., McLean, S. D., Nugent, K. M., Morton, J., Nicholl, J., Andrieux, J., Stray-Pedersen, A., Chambon, P., Patrier, S., Lynch, S. A., Kjaergaard, S., Tørring, P. M., Brasch-Andersen, C., Ronan, A., van Haeringen, A., Anderson, P. J., Powis, Z., Brunner, H. G., Pfundt, R., Schuurs-Hoeijmakers, J. H. M., van Bon, B. W. M., Lelieveld, S., Gilissen, C., Nillesen, W. M., Vissers, L. E. L. M., Gecz, J., Koolen, D. A., Testa, G., & de Vries, B. B. A.
- Affiliations
- European Institute of Oncology (IT)
- The University of Adelaide (AU)
- South Australia Pathology (AU)
- Keio University (JP)
- University of Zurich (CH)
- Oslo University Hospital (NO)
- Baylor College of Medicine (US)
- The University of Texas Health Science Center at Houston (US)
- University of California San Diego (US)
- University of Utah (US)
- Children's Hospital of San Antonio (US)
- Birmingham Women's Hospital (GB)
- Hôpital Jeanne de Flandre (FR)
- Centre Hospitalier Universitaire de Rouen (FR)
- Children's Health Ireland at Crumlin (IE)
- Odense University Hospital (DK)
- Hunter Genetics (AU)
- Women's and Children's Hospital (AU)
- Ambry Genetics (United States) (US)
- Radboud University Medical Center (NL)
- University of Milan (IT)
- Corresponding author
- Testa, Giuseppe
- ORCID
- Gabriele, Michele
- Germain, Pierre-Luc
- Vitriolo, Alessandro
- Kumar, Raman
- Haan, Eric
- Kosaki, Kenjiro
- Takenouchi, Toshiki
- Rauch, Anita
- Steindl, Katharina
- Frengen, Eirik
- Misceo, Doriana
- Rosenfeld, Jill A.
- Schaaf, Christian P.
- Farach, Laura
- Friedman, Jennifer
- McLean, Scott D.
- Nugent, Kimberly M.
- Chambon, Pascal
- Lynch, Sally A.
- Tørring, Pernille M.
- Ronan, Anne
- Anderson, Peter J.
- Powis, Zöe
- Brunner, Han G.
- Pfundt, Rolph
- Schuurs-Hoeijmakers, Janneke H.M.
- Lelieveld, Stefan
- Gilissen, Christian
- Vissers, Lisenka E.L.M.
- Koolen, David A.
- Testa, Giuseppe
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2017-06
- Volume
- 100
- Issue
- 6
- Pages
- 907-925
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC5473733
- OpenAlex
- W2620797288
- Cited by
- 163
- References
- 84
- Citations by year
- 2026: 14 · 2025: 16 · 2024: 18 · 2023: 15 · 2022: 17 · 2021: 28 · 2020: 17 · 2019: 21 · 2018: 11 · 2017: 4
- FWCI
- 9.60
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion, cc-by-nc-nd)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Research Publications (Maastricht University) (publishedVersion, cc-by-nc-nd)
- Zurich Open Repository and Archive (University of Zurich) (acceptedVersion, cc-by-nc-nd)
- Leiden Repository (Leiden University) (submittedVersion)
- University of Southern Denmark Research Portal (University of Southern Denmark) (submittedVersion, cc-by-nc-nd)
- Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
- Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano) (submittedVersion, other-oa)
- Adelaide Research & Scholarship (AR&S) (University of Adelaide) (submittedVersion, cc-by-nc-nd)
- Minerva Access (University of Melbourne) (submittedVersion, cc-by-nc-nd)
- Radboud Repository (Radboud University) (submittedVersion)
- NORA - Norwegian Open Research Archives (submittedVersion, cc-by-nc-nd)
- Zurich Open Repository and Archive (University of Zurich) (submittedVersion, cc-by-nc-nd)
- Radboud Repository (Radboud University) (submittedVersion, other-oa)
- Research Publications (Maastricht University) (submittedVersion, other-oa)
- Zurich Open Repository and Archive (University of Zurich)
- Funders
- European Commission (241995)
- European Research Council (DISEASEAVATARS 616441)
- Telethon Foundation (GGP13231B, GGP14265)
- Associazione Italiana per la Ricerca sul Cancro
- Regione Lombardia (Ricerca Indipendente 2012)
- Umberto Veronesi Foundation
- Italian Ministry of Health (ERANET-Neuron grant, Ricerca Corrente grant)
- Japan Agency for Medical Research and Development
- Australian National Health and Medical Research Council (1091593)
- Dutch Organization for Health Research and Development (917-86-319, 912-12-109)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Keywords
- YY1, haploinsufficiency, intellectual disability, de novo mutations, zinc finger transcription factor, chromatin binding, enhancer regulation, H3K27 acetylation, transcriptional dysregulation, fetal growth restriction, congenital malformations, behavioral alterations
- MeSH terms
- Protein Domains, Acetylation, Adolescent, Base Sequence, Child, Preschool, Chromatin, Enhancer Elements, Genetic, Female, Haplotypes, Histones, Humans, Lymphocytes, Male, Intellectual Disability, Methylation, Models, Molecular, Protein Binding, Transcription, Genetic, Cohort Studies, Mutation, Missense, Chromatin Immunoprecipitation, YY1 Transcription Factor, Haploinsufficiency, Hemizygote, Gene Ontology
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