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3. A noncoding single-nucleotide polymorphism at 8q24 drives IDH1-mutant glioma formation

Author

Yanchus, Connor, Drucker, Kristen L, Kollmeyer, Thomas M, Tsai, Ricky, Winick-Ng, Warren, Liang, Minggao, Malik, Ahmad, Pawling, Judy, De Lorenzo, Silvana B, Ali, Asma, Decker, Paul A, Kosel, Matt L, Panda, Arijit, Al-Zahrani, Khalid N, Jiang, Lingyan, Browning, Jared WL, Lowden, Chris, Geuenich, Michael, Hernandez, J Javier, Gosio, Jessica T, Ahmed, Musaddeque, Loganathan, Sampath Kumar, Berman, Jacob, Trcka, Daniel, Michealraj, Kulandaimanuvel Antony, Fortin, Jerome, Carson, Brittany, Hollingsworth, Ethan W, Jacinto, Sandra, Mazrooei, Parisa, Zhou, Lily, Elia, Andrew, Lupien, Mathieu, He, Housheng Hansen, Murphy, Daniel J, Wang, Liguo, Abyzov, Alexej, Dennis, James W, Maass, Philipp G, Campbell, Kieran, Wilson, Michael D, Lachance, Daniel H, Wrensch, Margaret, Wiencke, John, Mak, Tak, Pennacchio, Len A, Dickel, Diane E, Visel, Axel, Wrana, Jeffrey, Taylor, Michael D, Zadeh, Gelareh, Dirks, Peter, Eckel-Passow, Jeanette E, Attisano, Liliana, Pombo, Ana, Ida, Cristiane M, Kvon, Evgeny Z, Jenkins, Robert B, and Schramek, Daniel

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Brain Cancer, Brain Disorders, Human Genome, Neurosciences, Rare Diseases, Genetics, Cancer Genomics, Cancer, 2.1 Biological and endogenous factors, Animals, Brain Neoplasms, Chromosomes, Human, Pair 8, Glioma, Humans, Isocitrate Dehydrogenase, Mice, Mutation, Polymorphism, Single Nucleotide, General Science & Technology
Abstract

Establishing causal links between inherited polymorphisms and cancer risk is challenging. Here, we focus on the single-nucleotide polymorphism rs55705857, which confers a sixfold greater risk of isocitrate dehydrogenase (IDH)-mutant low-grade glioma (LGG). We reveal that rs55705857 itself is the causal variant and is associated with molecular pathways that drive LGG. Mechanistically, we show that rs55705857 resides within a brain-specific enhancer, where the risk allele disrupts OCT2/4 binding, allowing increased interaction with the Myc promoter and increased Myc expression. Mutating the orthologous mouse rs55705857 locus accelerated tumor development in an Idh1R132H-driven LGG mouse model from 472 to 172 days and increased penetrance from 30% to 75%. Our work reveals mechanisms of the heritable predisposition to lethal glioma in ~40% of LGG patients.

Published
2022

4. A non-coding single nucleotide polymorphism at 8q24 drives IDH1-mutant glioma formation

Author

Yanchus, Connor, Drucker, Kristen L, Kollmeyer, Thomas M, Tsai, Ricky, Liang, Minggao, Jiang, Lingyan, Pawling, Judy, Ali, Asma, Decker, Paul, Kosel, Matt, Panda, Arijit, Malik, Ahmad, Al-Zahrani, Khalid N, Hernandez, J Javier, Ahmed, Musaddeque, Loganathan, Sampath Kumar, Trcka, Daniel, Michaelraj, Antony, Fortin, Jerome, Mazrooei, Parisa, Zhou, Lily, Elia, Andrew, Lupien, Mathieu, He, Housheng Hansen, Wang, Liguo, Abyzov, Alexej, Dennis, James W, Wilson, Michael D, Wrana, Jeffrey, Lachance, Daniel, Wrensch, Margaret, Wiencke, John, Pennacchio, Len A, Dickel, Diane E, Visel, Axel, Taylor, Michael, Zadeh, Gelareh, Dirks, Peter, Eckel-Passow, Jeanette E, Mak, Tak, Kvon, Evgeny, Jenkins, Robert B, and Schramek, Daniel

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Cancer Genomics, Brain Cancer, Brain Disorders, Rare Diseases, Prevention, Genetics, Human Genome, Cancer, Neurosciences, 2.1 Biological and endogenous factors
Abstract

Establishing causal links between inherited polymorphisms and cancer risk is challenging. Here, we focus on the single nucleotide polymorphism rs55705857 (A>G), which confers a 6-fold increased risk of IDH-mutant low-grade glioma (LGG) and is amongst the highest genetic associations with cancer. By fine-mapping the locus, we reveal that rs55705857 itself is the causal variant and is associated with molecular pathways that drive LGG. Mechanistically, we show that rs55705857 resides within a brain-specific enhancer, where the risk allele disrupts OCT2/4 binding, allowing increased interaction with the Myc promoter and increased Myc expression. To functionally test rs55705857, we generated an IDH1 R132H -driven LGG mouse model and show that mutating the highly conserved, orthologous mouse rs55705857 locus dramatically accelerated tumor development from 463 to 172 days and increased penetrance from 30% to 75%. Overall, our work generates new LGG models and reveals mechanisms of the heritable predisposition to lethal glioma in ∼40% of LGG-patients.

Published
2022

5. IDH2 and TET2 mutations synergize to modulate T Follicular Helper cell functional interaction with the AITL microenvironment

Author

Leca, Julie, Lemonnier, Franҫois, Meydan, Cem, Foox, Jonathan, El Ghamrasni, Samah, Mboumba, Diana-Laure, Duncan, Gordon S., Fortin, Jerome, Sakamoto, Takashi, Tobin, Chantal, Hodgson, Kelsey, Haight, Jillian, Smith, Logan K., Elia, Andrew J., Butler, Daniel, Berger, Thorsten, de Leval, Laurence, Mason, Christopher E., Melnick, Ari, Gaulard, Philippe, and Mak, Tak W.

Published
2023
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9. #2305 Mice with a PAX2 missense variant are susceptible to experimental focal segmental glomerulosclerosis (FSGS) and display impaired glomerular repair

Author

Cunanan, Joanna, primary, Rajyam, Sarada Sriya, additional, Rana, Akanchaya, additional, De Gregorio, Vanessa, additional, Ricardo, Samantha, additional, Benepal, Jasmeet, additional, Caparali, Emine Bilge, additional, Elia, Andrew, additional, Weins, Astrid, additional, Pollak, Martin, additional, John, Rohan, additional, and Barua, Moumita, additional

Published
2024
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12. Mice with a Pax2 missense variant display impaired glomerular repair

Author

Cunanan, Joanna, primary, Rajyam, Sarada Sriya, additional, Sharif, Bedra, additional, Udwan, khalil, additional, Rana, Akanchaya, additional, De Gregorio, Vanessa, additional, Ricardo, Samantha, additional, Elia, Andrew, additional, Brooks, Brian, additional, Weins, Astrid, additional, Pollak, Martin, additional, John, Rohan, additional, and Barua, Moumita, additional

Published
2024
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14. Identification of KIFC1 as a putative vulnerability in lung cancers with centrosome amplification

Author

Zhang, Christopher, primary, Wu, Benson, additional, Wu, Yin Fang, additional, di Ciano-Oliveira, Caterina, additional, Soria-Bretones, Isabel, additional, Pham, Nhu-An, additional, Elia, Andrew J., additional, Chari, Raj, additional, Lam, Wan L., additional, Bray, Mark R., additional, Mak, Tak W., additional, Tsao, Ming-Sound, additional, Cescon, David W., additional, and Thu, Kelsie L., additional

Published
2024
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15. Mule Regulates the Intestinal Stem Cell Niche via the Wnt Pathway and Targets EphB3 for Proteasomal and Lysosomal Degradation

Author

Dominguez-Brauer, Carmen, Hao, Zhenyue, Elia, Andrew J, Fortin, Jérôme M, Nechanitzky, Robert, Brauer, Patrick M, Sheng, Yi, Mana, Miyeko D, Chio, Iok In Christine, Haight, Jillian, Pollett, Aaron, Cairns, Robert, Tworzyanski, Leanne, Inoue, Satoshi, Reardon, Colin, Marques, Ana, Silvester, Jennifer, Cox, Maureen A, Wakeham, Andrew, Yilmaz, Omer H, Sabatini, David M, van Es, Johan H, Clevers, Hans, Sato, Toshiro, and Mak, Tak W

Subjects
Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, Cancer, Regenerative Medicine, Stem Cell Research - Nonembryonic - Non-Human, Stem Cell Research, Biotechnology, Digestive Diseases, Colo-Rectal Cancer, 2.1 Biological and endogenous factors, Aetiology, Oral and gastrointestinal, Adenomatous Polyposis Coli, Alleles, Animals, Carcinogenesis, Cell Proliferation, Colonic Neoplasms, Endocytosis, Ephrin-B3, HEK293 Cells, Humans, Intestines, Lysosomes, Mice, Knockout, Models, Biological, Mutation, Paneth Cells, Proteasome Endopeptidase Complex, Proteolysis, Proto-Oncogene Proteins c-myc, Stem Cell Niche, Tumor Suppressor Proteins, Ubiquitin, Ubiquitin-Protein Ligases, Wnt Signaling Pathway, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences
Abstract

The E3 ubiquitin ligase Mule is often overexpressed in human colorectal cancers, but its role in gut tumorigenesis is unknown. Here, we show in vivo that Mule controls murine intestinal stem and progenitor cell proliferation by modulating Wnt signaling via c-Myc. Mule also regulates protein levels of the receptor tyrosine kinase EphB3 by targeting it for proteasomal and lysosomal degradation. In the intestine, EphB/ephrinB interactions position cells along the crypt-villus axis and compartmentalize incipient colorectal tumors. Our study thus unveils an important new avenue by which Mule acts as an intestinal tumor suppressor by regulation of the intestinal stem cell niche.

Published
2016

16. Mice with a Pax2 missense variant display impaired glomerular repair.

Author

Cunanan, Joanna, Rajyam, Sarada Sriya, Sharif, Bedra, Udwan, Khalil, Rana, Akanchaya, De Gregorio, Vanessa, Ricardo, Samantha, Elia, Andrew, Brooks, Brian, Weins, Astrid, Pollak, Martin, John, Rohan, and Barua, Moumita

Subjects
MISSENSE mutation, PARIETAL cells, GLOMERULOSCLEROSIS, KIDNEY development, MICE
Abstract

PAX2 regulates kidney development, and its expression persists in parietal epithelial cells (PECs), potentially serving as a podocyte reserve. We hypothesized that mice with a Pax2 pathogenic missense variant (Pax2A220G/þ) have impaired PEC-mediated podocyte regeneration. Embryonic wild-type mouse kidneys showed overlapping expression of PAX2/Wilms' tumor-1 (WT-1) until PEC and podocyte differentiation, reflecting a close lineage relationship. Embryonic and adult Pax2A220G/þ mice have reduced nephron number but demonstrated no glomerular disease under baseline conditions. Pax2A220G/þ mice compared with wildtype mice were more susceptible to glomerular disease after adriamycin (ADR)-induced podocyte injury, as demonstrated by worsened glomerular scarring, increased podocyte foot process effacement, and podocyte loss. There was a decrease in PAX2- expressing PECs in wild-type mice after adriamycin injury accompanied by the occurrence of PAX2/WT-1-coexpressing glomerular tuft cells. In contrast, Pax2A220G/þ mice showed no changes in the numbers of PAX2-expressing PECs after adriamycin injury, associated with fewer PAX2/WT-1-coexpressing glomerular tuft cells compared with injured wild-type mice. A subset of PAX2- expressing glomerular tuft cells after adriamycin injury was increased in Pax2A220G/þ mice, suggesting a pathological process given the worse outcomes observed in this group. Finally, Pax2A220G/þ mice have increased numbers of glomerular tuft cells expressing Ki-67 and cleaved caspase-3 compared with wild-type mice after adriamycin injury, consistent with maladaptive responses to podocyte loss. Collectively, our results suggest that decreased glomerular numbers in Pax2A220G/þ mice are likely compounded with the inability of their mutated PECs to regenerate podocyte loss, and together these two mechanisms drive the worsened focal segmental glomerular sclerosis phenotype in these mice. [ABSTRACT FROM AUTHOR]

Published
2024
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21. Tumor-specific cholinergic CD4+ T lymphocytes guide immunosurveillance of hepatocellular carcinoma

Author

Zheng, Chunxing, primary, Snow, Bryan E., additional, Elia, Andrew J., additional, Nechanitzky, Robert, additional, Dominguez-Brauer, Carmen, additional, Liu, Shaofeng, additional, Tong, Yin, additional, Cox, Maureen A., additional, Focaccia, Enrico, additional, Wakeham, Andrew C., additional, Haight, Jillian, additional, Tobin, Chantal, additional, Hodgson, Kelsey, additional, Gill, Kyle T., additional, Ma, Wei, additional, Berger, Thorsten, additional, Heikenwälder, Mathias, additional, Saunders, Mary E., additional, Fortin, Jerome, additional, Leung, Suet Yi, additional, and Mak, Tak W., additional

Published
2023
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30. Supplementary Data from Loss of Epigenetic Regulation Disrupts Lineage Integrity, Induces Aberrant Alveogenesis, and Promotes Breast Cancer

Author

Langille, Ellen, primary, Al-Zahrani, Khalid N., primary, Ma, Zhibo, primary, Liang, Minggao, primary, Uuskula-Reimand, Liis, primary, Espin, Roderic, primary, Teng, Katie, primary, Malik, Ahmad, primary, Bergholtz, Helga, primary, Ghamrasni, Samah El, primary, Afiuni-Zadeh, Somaieh, primary, Tsai, Ricky, primary, Alvi, Sana, primary, Elia, Andrew, primary, Lü, YiQing, primary, Oh, Robin H., primary, Kozma, Katelyn J., primary, Trcka, Daniel, primary, Narimatsu, Masahiro, primary, Liu, Jeff C., primary, Nguyen, Thomas, primary, Barutcu, Seda, primary, Loganathan, Sampath K., primary, Bremner, Rod, primary, Bader, Gary D., primary, Egan, Sean E., primary, Cescon, David W., primary, Sørlie, Therese, primary, Wrana, Jeffrey L., primary, Jackson, Hartland W., primary, Wilson, Michael D., primary, Witkiewicz, Agnieszka K., primary, Knudsen, Erik S., primary, Pujana, Miguel Angel, primary, Wahl, Geoffrey M., primary, and Schramek, Daniel, primary

Published
2023
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31. Data from Loss of Epigenetic Regulation Disrupts Lineage Integrity, Induces Aberrant Alveogenesis, and Promotes Breast Cancer

Author

Langille, Ellen, primary, Al-Zahrani, Khalid N., primary, Ma, Zhibo, primary, Liang, Minggao, primary, Uuskula-Reimand, Liis, primary, Espin, Roderic, primary, Teng, Katie, primary, Malik, Ahmad, primary, Bergholtz, Helga, primary, Ghamrasni, Samah El, primary, Afiuni-Zadeh, Somaieh, primary, Tsai, Ricky, primary, Alvi, Sana, primary, Elia, Andrew, primary, Lü, YiQing, primary, Oh, Robin H., primary, Kozma, Katelyn J., primary, Trcka, Daniel, primary, Narimatsu, Masahiro, primary, Liu, Jeff C., primary, Nguyen, Thomas, primary, Barutcu, Seda, primary, Loganathan, Sampath K., primary, Bremner, Rod, primary, Bader, Gary D., primary, Egan, Sean E., primary, Cescon, David W., primary, Sørlie, Therese, primary, Wrana, Jeffrey L., primary, Jackson, Hartland W., primary, Wilson, Michael D., primary, Witkiewicz, Agnieszka K., primary, Knudsen, Erik S., primary, Pujana, Miguel Angel, primary, Wahl, Geoffrey M., primary, and Schramek, Daniel, primary

Published
2023
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32. Mutant IDH1 Downregulates ATM and Alters DNA Repair and Sensitivity to DNA Damage Independent of TET2

Author

Inoue, Satoshi, Li, Wanda Y., Tseng, Alan, Beerman, Isabel, Elia, Andrew J., Bendall, Sean C., Lemonnier, François, Kron, Ken J., Cescon, David W., Hao, Zhenyue, Lind, Evan F., Takayama, Naoya, Planello, Aline C., Shen, Shu Yi, Shih, Alan H., Larsen, Dana M., Li, Qinxi, Snow, Bryan E., Wakeham, Andrew, Haight, Jillian, Gorrini, Chiara, Bassi, Christian, Thu, Kelsie L., Murakami, Kiichi, Elford, Alisha R., Ueda, Takeshi, Straley, Kimberly, Yen, Katharine E., Melino, Gerry, Cimmino, Luisa, Aifantis, Iannis, Levine, Ross L., De Carvalho, Daniel D., Lupien, Mathieu, Rossi, Derrick J., Nolan, Garry P., Cairns, Rob A., and Mak, Tak W.

Published
2016
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35. Tissue specific regulation of CYP2B gene expression

Author

Elia, Andrew Panayioti

Subjects
572.8, Genetics
Abstract

Phenobarbital (PB) and picrotoxin increased the expression of both CYP2B1 and CYP2B2 genes in the rat liver. Using western blotting and RNase protection assays it was shown that both compounds increased only CYP2B1 in the small intestine. Gel retardation assays using nuclear extracts from the liver and small intestine and the region -183 to -199 of the CYP2B2 gene promoter revealed that this DNA sequence binds a protein only from liver extracts and hence is probably involved in the tissue-specific expression of the CYP2B2 gene. The abundance or activity of this transcription factor was increased in liver nuclear extracts by both PB and picrotoxin. The CYP2B1 gene promoter was cloned. Gel retardation assays using fragments of the CYP2B1 gene promoter were used to compare: 1) the effect of PB and picrotoxin treatments on the abundance of DNA-protein complexes. 2) to compare the DNA-protein complexes formed with liver and small intestinal samples from both treated and untreated animals. A C/EBP binding site was located within the region -2 to -178. Supershift assays indicate that both C/EBPα and C/EBPδ bind to this region of the CYP2B1 promoter. In the region -179 to -347 a DNA-protein complex that was of greater abundance with liver extracts from PB-treated animals was identified. Two DNA-protein complexes were identified in the region -348 to -451 that were of greater abundance with extracts from the livers of untreated animals. Distinct tissue-specific patterns of DNA-protein complexes were observed. GST subunit 7 and the transcription factor HNF-4 were found also to be induced by PB and picrotoxin in the small intestine, whereas cytochrome P450 reductase, cytochrome b5 and cytochrome b5 reductase are expressed but not induced by these chemicals in the small intestine.

Published
1996

40. Glutathione and Thioredoxin Antioxidant Pathways Synergize to Drive Cancer Initiation and Progression

Author

Harris, Isaac S., Treloar, Aislinn E., Inoue, Satoshi, Sasaki, Masato, Gorrini, Chiara, Lee, Kim Chung, Yung, Ka Yi, Brenner, Dirk, Knobbe-Thomsen, Christiane B., Cox, Maureen A., Elia, Andrew, Berger, Thorsten, Cescon, David W., Adeoye, Adewunmi, Brüstle, Anne, Molyneux, Sam D., Mason, Jacqueline M., Li, Wanda Y., Yamamoto, Kazuo, Wakeham, Andrew, Berman, Hal K., Khokha, Rama, Done, Susan J., Kavanagh, Terrance J., Lam, Ching-Wan, and Mak, Tak W.

Published
2015
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41. Largen: A Molecular Regulator of Mammalian Cell Size Control

Author

Yamamoto, Kazuo, Gandin, Valentina, Sasaki, Masato, McCracken, Susan, Li, Wanda, Silvester, Jennifer Liepa, Elia, Andrew J., Wang, Feng, Wakutani, Yosuke, Alexandrova, Roumiana, Oo, Yathor D, Mullen, Peter J., Inoue, Satoshi, Itsumi, Momoe, Lapin, Valentina, Haight, Jillian, Wakeham, Andrew, Shahinian, Arda, Ikura, Mitsuhiko, Topisirovic, Ivan, Sonenberg, Nahum, and Mak, Tak W.

Published
2014
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43. TAp73 is required for spermatogenesis and the maintenance of male fertility

Author

Inoue, Satoshi, Tomasini, Richard, Rufini, Alessandro, Elia, Andrew J., Agostini, Massimiliano, Amelio, Ivano, Cescon, Dave, Dinsdale, David, Zhou, Lily, Harris, Isaac S., Lac, Sophie, Silvester, Jennifer, Li, Wanda Y., Sasaki, Masato, Haight, Jillian, Brüstle, Anne, Wakeham, Andrew, Mckerlie, Colin, Jurisicova, Andrea, Melino, Gerry, and Mak, Tak W.

Published
2014

44. Loss of Epigenetic Regulation Disrupts Lineage Integrity, Induces Aberrant Alveogenesis, and Promotes Breast Cancer

Author

Langille, Ellen, primary, Al-Zahrani, Khalid N., additional, Ma, Zhibo, additional, Liang, Minggao, additional, Uuskula-Reimand, Liis, additional, Espin, Roderic, additional, Teng, Katie, additional, Malik, Ahmad, additional, Bergholtz, Helga, additional, Ghamrasni, Samah El, additional, Afiuni-Zadeh, Somaieh, additional, Tsai, Ricky, additional, Alvi, Sana, additional, Elia, Andrew, additional, Lü, YiQing, additional, Oh, Robin H., additional, Kozma, Katelyn J., additional, Trcka, Daniel, additional, Narimatsu, Masahiro, additional, Liu, Jeff C., additional, Nguyen, Thomas, additional, Barutcu, Seda, additional, Loganathan, Sampath K., additional, Bremner, Rod, additional, Bader, Gary D., additional, Egan, Sean E., additional, Cescon, David W., additional, Sørlie, Therese, additional, Wrana, Jeffrey L., additional, Jackson, Hartland W., additional, Wilson, Michael D., additional, Witkiewicz, Agnieszka K., additional, Knudsen, Erik S., additional, Pujana, Miguel Angel, additional, Wahl, Geoffrey M., additional, and Schramek, Daniel, additional

Published
2022
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