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355. The influence of kin relationship and reciprocal context on chimpanzees' other-regarding preferences

Author

Yamamoto, Shinya and Tanaka, Masayuki

Subjects
Chimpanzees, Evolution, Zoology and wildlife conservation
Abstract

To link to full-text access for this article, visit this link: http://dx.doi.org/10.1016/j.anbehav.2009.11.034 Byline: Shinya Yamamoto, Masayuki Tanaka Abstract: We investigated the evolutionary origin of other-regarding preferences, one of the strong underlying motivations for altruism, in the chimpanzee, Pan troglodytes. Although altruism is expected theoretically to be kin biased and frequent in a reciprocal context, few experimental studies to date have specifically tested these hypotheses from the viewpoint of proximate mechanisms. We examined the other-regarding preferences of individuals in mother-offspring pairs and in nonkin adult pairs in both reciprocal and nonreciprocal contexts. Based on the previously established choice paradigm with mutually or selfishly beneficial options, we developed a novel task using buttons. In experiment 1, chimpanzee participants involving three mother-offspring pairs were offered two options: delivering food rewards to their partner and themselves or only to themselves. We compared their choices between partner-present and partner-absent conditions. In experiment 2, we developed a reciprocal context in which the two participants alternately chose the two options. In contrast to the theoretical predictions, the chimpanzees did not show any prosocial tendencies even between mother and offspring or in a reciprocal context. We propose that the experimental set-up which prevented direct interactions between the participants might have influenced these results. In conclusion, the present study suggests that voluntary and/or strategic other-rewarding behaviour arose in humans after divergence from the common ancestor of humans and chimpanzees. Author Affiliation: Primate Research Institute, Kyoto University, Japan Article History: Received 29 January 2009; Revised 23 May 2009; Accepted 9 November 2009 Article Note: (miscellaneous) MS. number: 09-00067R

Published
2010

361. Do chimpanzees (Pan troglodytes) spontaneously take turns in a reciprocal cooperation task?

Author

Yamamoto, Shinya and Tanaka, Masayuki

Subjects
Chimpanzees -- Behavior, Altruistic behavior in animals -- Research, Psychology and mental health
Abstract

Reciprocity is considered to be an explanation for altruism toward nonkin. Although there have been many theoretical studies and reciprocity is arguably prevalent in humans, little experimental work has investigated the proximate mechanism of reciprocity in nonhuman animals. The authors tested whether pairs of chimpanzees (Pan troglodytes) would achieve reciprocal cooperation, that is, whether chimpanzees take turns playing donor and recipient roles in ah other-rewarding token insertion task. In this task, when a chimpanzee inserts a token into a vending machine, a food reward is delivered to another chimpanzee in an adjacent booth. For 3 pairs of chimpanzees, token insertion persisted in ah alternate condition, in which the participants necessarily had to insert tokens alternately, but not in a free condition, in which they freely took turns inserting tokens. In the free condition, one of the chimpanzees was observed to perform a possible solicitation toward the partner who had previously inserted fewer tokens. These findings suggest that there is some difficulty in the occurrence of reciprocal cooperation in chimpanzees. Chimpanzees, differently from humans, might play a donor's role only on the partner's request, but not spontaneously. Keywords: chimpanzee (Pan troglodytes), reciprocal altruism, turn-taking, solicitation, punishment Supplemental materials: http://dx.doi.org/10.1037/a0015838.supp

Published
2009

365. De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.

Author

Manivannan, Sathiya N, Roovers, Jolien, Smal, Noor, Myers, Candace T, Turkdogan, Dilsad, Roelens, Filip, Kanca, Oguz, Chung, Hyung-Lok, Scholz, Tasja, Hermann, Katharina, Bierhals, Tatjana, Caglayan, Hande S, Stamberger, Hannah, Consortium, MAE Working Group of EuroEPINOMICS RES, Mefford, Heather, Jonghe, Peter de, Yamamoto, Shinya, Weckhuysen, Sarah, Bellen, Hugo J, and MAE Working Group of EuroEPINOMICS RES Consortium

Subjects
RESEARCH, EPILEPSY, CRANIOFACIAL abnormalities, CELL cycle proteins, EVALUATION research, COMPARATIVE studies, RESEARCH funding, PHENOTYPES, ATAXIA
Abstract

FZR1, which encodes the Cdh1 subunit of the anaphase-promoting complex, plays an important role in neurodevelopment by regulating the cell cycle and by its multiple post-mitotic functions in neurons. In this study, evaluation of 250 unrelated patients with developmental and epileptic encephalopathies and a connection on GeneMatcher led to the identification of three de novo missense variants in FZR1. Whole-exome sequencing in 39 patient-parent trios and subsequent targeted sequencing in an additional cohort of 211 patients was performed to identify novel genes involved in developmental and epileptic encephalopathy. Functional studies in Drosophila were performed using three different mutant alleles of the Drosophila homologue of FZR1 fzr. All three individuals carrying de novo variants in FZR1 had childhood-onset generalized epilepsy, intellectual disability, mild ataxia and normal head circumference. Two individuals were diagnosed with the developmental and epileptic encephalopathy subtype myoclonic atonic epilepsy. We provide genetic-association testing using two independent statistical tests to support FZR1 association with developmental and epileptic encephalopathies. Further, we provide functional evidence that the missense variants are loss-of-function alleles using Drosophila neurodevelopment assays. Using three fly mutant alleles of the Drosophila homologue fzr and overexpression studies, we show that patient variants can affect proper neurodevelopment. With the recent report of a patient with neonatal-onset with microcephaly who also carries a de novo FZR1 missense variant, our study consolidates the relationship between FZR1 and developmental and epileptic encephalopathy and expands the associated phenotype. We conclude that heterozygous loss-of-function of FZR1 leads to developmental and epileptic encephalopathies associated with a spectrum of neonatal to childhood-onset seizure types, developmental delay and mild ataxia. Microcephaly can be present but is not an essential feature of FZR1-encephalopathy. In summary, our approach of targeted sequencing using novel gene candidates and functional testing in Drosophila will help solve undiagnosed myoclonic atonic epilepsy or developmental and epileptic encephalopathy cases. [ABSTRACT FROM AUTHOR]

Published
2022
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367. “Crush Carving Technique” Using a Soft Coagulation Device: A Simple Method for Successful Laparoscopic Partial Nephrectomy Without Hilar Clamping

Author

Komai, Yoshinobu, primary, Hamada, Kosuke, additional, Fujiwara, Motohiro, additional, Kaneko Yoshitomi, Kasumi, additional, Ishikawa, Yudai, additional, Fukagawa, Eri, additional, Fujiwara, Ryo, additional, Oguchi, Tomohiko, additional, Numao, Noboru, additional, Yuasa, Takeshi, additional, Yamamoto, Shinya, additional, and Yonese, Junji, additional

Published
2021
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368. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Author

Ferdinandusse, Sacha, primary, McWalter, Kirsty, additional, te Brinke, Heleen, additional, IJlst, Lodewijk, additional, Mooijer, Petra M., additional, Ruiter, Jos P.N., additional, van Lint, Alida E.M., additional, Pras-Raves, Mia, additional, Wever, Eric, additional, Millan, Francisca, additional, Guillen Sacoto, Maria J., additional, Begtrup, Amber, additional, Tarnopolsky, Mark, additional, Brady, Lauren, additional, Ladda, Roger L., additional, Sell, Susan L., additional, Nowak, Catherine B., additional, Douglas, Jessica, additional, Tian, Cuixia, additional, Ulm, Elizabeth, additional, Perlman, Seth, additional, Drack, Arlene V., additional, Chong, Karen, additional, Martin, Nicole, additional, Brault, Jennifer, additional, Brokamp, Elly, additional, Toro, Camilo, additional, Gahl, William A., additional, Macnamara, Ellen F., additional, Wolfe, Lynne, additional, Alejandro, Mercedes E., additional, Azamian, Mahshid S., additional, Bacino, Carlos A., additional, Balasubramanyam, Ashok, additional, Burrage, Lindsay C., additional, Chao, Hsiao-Tuan, additional, Clark, Gary D., additional, Craigen, William J., additional, Dai, Hongzheng, additional, Dhar, Shweta U., additional, Emrick, Lisa T., additional, Goldman, Alica M., additional, Hanchard, Neil A., additional, Jamal, Fariha, additional, Karaviti, Lefkothea, additional, Lalani, Seema R., additional, Lee, Brendan H., additional, Lewis, Richard A., additional, Marom, Ronit, additional, Moretti, Paolo M., additional, Murdock, David R., additional, Nicholas, Sarah K., additional, Orengo, James P., additional, Posey, Jennifer E., additional, Potocki, Lorraine, additional, Rosenfeld, Jill A., additional, Samson, Susan L., additional, Scott, Daryl A., additional, Tran, Alyssa A., additional, Vogel, Tiphanie P., additional, Wangler, Michael F., additional, Yamamoto, Shinya, additional, Eng, Christine M., additional, Liu, Pengfei, additional, Ward, Patricia A., additional, Behrens, Edward, additional, Deardorff, Matthew, additional, Falk, Marni, additional, Hassey, Kelly, additional, Sullivan, Kathleen, additional, Vanderver, Adeline, additional, Goldstein, David B., additional, Cope, Heidi, additional, McConkie-Rosell, Allyn, additional, Schoch, Kelly, additional, Shashi, Vandana, additional, Smith, Edward C., additional, Spillmann, Rebecca C., additional, Sullivan, Jennifer A., additional, Tan, Queenie K.-G., additional, Walley, Nicole M., additional, Agrawal, Pankaj B., additional, Beggs, Alan H., additional, Berry, Gerard T., additional, Briere, Lauren C., additional, Cobban, Laurel A., additional, Coggins, Matthew, additional, Cooper, Cynthia M., additional, Fieg, Elizabeth L., additional, High, Frances, additional, Holm, Ingrid A., additional, Korrick, Susan, additional, Krier, Joel B., additional, Lincoln, Sharyn A., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, MacRae, Calum A., additional, Pallais, J. Carl, additional, Rao, Deepak A., additional, Rodan, Lance H., additional, Silverman, Edwin K., additional, Stoler, Joan M., additional, Sweetser, David A., additional, Walker, Melissa, additional, Walsh, Chris A., additional, Esteves, Cecilia, additional, Kelley, Emily G., additional, Kohane, Isaac S., additional, LeBlanc, Kimberly, additional, McCray, Alexa T., additional, Nagy, Anna, additional, Dasari, Surendra, additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, Morava, Eva, additional, Oglesbee, Devin, additional, Bademci, Guney, additional, Barbouth, Deborah, additional, Bivona, Stephanie, additional, Carrasquillo, Olveen, additional, Chang, Ta Chen Peter, additional, Forghani, Irman, additional, Grajewski, Alana, additional, Isasi, Rosario, additional, Lam, Byron, additional, Levitt, Roy, additional, Liu, Xue Zhong, additional, McCauley, Jacob, additional, Sacco, Ralph, additional, Saporta, Mario, additional, Schaechter, Judy, additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Zuchner, Stephan, additional, Colley, Heather A., additional, Dayal, Jyoti G., additional, Eckstein, David J., additional, Findley, Laurie C., additional, Krasnewich, Donna M., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mulvihill, John J., additional, LaMoure, Grace L., additional, Goldrich, Madison P., additional, Urv, Tiina K., additional, Doss, Argenia L., additional, Acosta, Maria T., additional, Bonnenmann, Carsten, additional, D’Souza, Precilla, additional, Draper, David D., additional, Ferreira, Carlos, additional, Godfrey, Rena A., additional, Groden, Catherine A., additional, Maduro, Valerie V., additional, Markello, Thomas C., additional, Nath, Avi, additional, Novacic, Donna, additional, Pusey, Barbara N., additional, Wahl, Colleen E., additional, Baker, Eva, additional, Burke, Elizabeth A., additional, Adams, David R., additional, Malicdan, May Christine V., additional, Tifft, Cynthia J., additional, Wolfe, Lynne A., additional, Yang, John, additional, Power, Bradley, additional, Gochuico, Bernadette, additional, Huryn, Laryssa, additional, Latham, Lea, additional, Davis, Joie, additional, Mosbrook-Davis, Deborah, additional, Rossignol, Francis, additional, Solomon, Ben, additional, MacDowall, John, additional, Thurm, Audrey, additional, Zein, Wadih, additional, Yousef, Muhammad, additional, Adam, Margaret, additional, Amendola, Laura, additional, Bamshad, Michael, additional, Beck, Anita, additional, Bennett, Jimmy, additional, Berg-Rood, Beverly, additional, Blue, Elizabeth, additional, Boyd, Brenna, additional, Byers, Peter, additional, Chanprasert, Sirisak, additional, Cunningham, Michael, additional, Dipple, Katrina, additional, Doherty, Daniel, additional, Earl, Dawn, additional, Glass, Ian, additional, Golden-Grant, Katie, additional, Hahn, Sihoun, additional, Hing, Anne, additional, Hisama, Fuki M., additional, Horike-Pyne, Martha, additional, Jarvik, Gail P., additional, Jarvik, Jeffrey, additional, Jayadev, Suman, additional, Lam, Christina, additional, Maravilla, Kenneth, additional, Mefford, Heather, additional, Merritt, J. Lawrence, additional, Mirzaa, Ghayda, additional, Nickerson, Deborah, additional, Raskind, Wendy, additional, Rosenwasser, Natalie, additional, Scott, C. Ron, additional, Sun, Angela, additional, Sybert, Virginia, additional, Wallace, Stephanie, additional, Wener, Mark, additional, Wenger, Tara, additional, Ashley, Euan A., additional, Bejerano, Gill, additional, Bernstein, Jonathan A., additional, Bonner, Devon, additional, Coakley, Terra R., additional, Fernandez, Liliana, additional, Fisher, Paul G., additional, Fresard, Laure, additional, Hom, Jason, additional, Huang, Yong, additional, Kohler, Jennefer N., additional, Kravets, Elijah, additional, Majcherska, Marta M., additional, Martin, Beth A., additional, Marwaha, Shruti, additional, McCormack, Colleen E., additional, Raja, Archana N., additional, Reuter, Chloe M., additional, Ruzhnikov, Maura, additional, Sampson, Jacinda B., additional, Smith, Kevin S., additional, Sutton, Shirley, additional, Tabor, Holly K., additional, Tucker, Brianna M., additional, Wheeler, Matthew T., additional, Zastrow, Diane B., additional, Zhao, Chunli, additional, Byrd, William E., additional, Crouse, Andrew B., additional, Might, Matthew, additional, Nakano-Okuno, Mariko, additional, Whitlock, Jordan, additional, Brown, Gabrielle, additional, Butte, Manish J., additional, Dell’Angelica, Esteban C., additional, Dorrani, Naghmeh, additional, Douine, Emilie D., additional, Fogel, Brent L., additional, Gutierrez, Irma, additional, Huang, Alden, additional, Krakow, Deborah, additional, Lee, Hane, additional, Loo, Sandra K., additional, Mak, Bryan C., additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, McGee, Elisabeth, additional, Nelson, Stanley F., additional, Nieves-Rodriguez, Shirley, additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Renteria, Genecee, additional, Signer, Rebecca H., additional, Sinsheimer, Janet S., additional, Wan, Jijun, additional, Wang, Lee-kai, additional, Perry, Katherine Wesseling, additional, Woods, Jeremy D., additional, Alvey, Justin, additional, Andrews, Ashley, additional, Bale, Jim, additional, Bohnsack, John, additional, Botto, Lorenzo, additional, Carey, John, additional, Pace, Laura, additional, Longo, Nicola, additional, Marth, Gabor, additional, Moretti, Paolo, additional, Quinlan, Aaron, additional, Velinder, Matt, additional, Viskochil, Dave, additional, Bayrak-Toydemir, Pinar, additional, Mao, Rong, additional, Westerfield, Monte, additional, Bican, Anna, additional, Duncan, Laura, additional, Hamid, Rizwan, additional, Kennedy, Jennifer, additional, Kozuira, Mary, additional, Newman, John H., additional, Phillips, John A., additional, Rives, Lynette, additional, Robertson, Amy K., additional, Solem, Emily, additional, Cogan, Joy D., additional, Cole, F. Sessions, additional, Hayes, Nichole, additional, Kiley, Dana, additional, Sisco, Kathy, additional, Wambach, Jennifer, additional, Wegner, Daniel, additional, Baldridge, Dustin, additional, Pak, Stephen, additional, Schedl, Timothy, additional, Shin, Jimann, additional, Solnica-Krezel, Lilianna, additional, Waisfisz, Quinten, additional, Zwijnenburg, Petra J.G., additional, Ziegler, Alban, additional, Barth, Magalie, additional, Smith, Rosemarie, additional, Ellingwood, Sara, additional, Gaebler-Spira, Deborah, additional, Bakhtiari, Somayeh, additional, Kruer, Michael C., additional, van Kampen, Antoine H.C., additional, Wanders, Ronald J.A., additional, Waterham, Hans R., additional, Cassiman, David, additional, and Vaz, Frédéric M., additional

Published
2021
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374. First-line Gemcitabine Versus Treatment of Physician’s Choice for Metastatic Breast Cancer: A Prospective Cohort Study

Author

YAMAMOTO, SHINYA, primary, NARUI, KAZUTAKA, additional, ISHIKAWA, TAKASHI, additional, ADACHI, SHOKO, additional, SHIMADA, KAZUHIRO, additional, SHIMIZU, DAISUKE, additional, YAMADA, AKIMITSU, additional, SUGAE, SADATOSHI, additional, TANABE, MIKIKO, additional, OBA, MARI, additional, MORITA, SATOSHI, additional, DOI, TAKAKO, additional, HASEGAWA, SATOSHI, additional, MORITA, TOMOYUKI, additional, KITO, AYAKO, additional, CHISHIMA, TAKASHI, additional, ICHIKAWA, YASUSHI, additional, and ENDO, ITARU, additional

Published
2021
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380. Antibody titers against SARS-CoV-2 decline, but do not disappear for several months

Author

Yamayoshi, Seiya, primary, Yasuhara, Atsuhiro, additional, Ito, Mutsumi, additional, Akasaka, Osamu, additional, Nakamura, Morio, additional, Nakachi, Ichiro, additional, Koga, Michiko, additional, Mitamura, Keiko, additional, Yagi, Kazuma, additional, Maeda, Kenji, additional, Kato, Hideaki, additional, Nojima, Masanori, additional, Pattinson, David, additional, Ogura, Takayuki, additional, Baba, Rie, additional, Fujita, Kensuke, additional, Nagai, Hiroyuki, additional, Yamamoto, Shinya, additional, Saito, Makoto, additional, Adachi, Eisuke, additional, Ochi, Junichi, additional, Hattori, Shin-ichiro, additional, Suzuki, Tetsuya, additional, Miyazato, Yusuke, additional, Chiba, Shiho, additional, Okuda, Moe, additional, Murakami, Jurika, additional, Hamabata, Taiki, additional, Iwatsuki-Horimoto, Kiyoko, additional, Nakajima, Hideaki, additional, Mitsuya, Hiroaki, additional, Omagari, Norio, additional, Sugaya, Norio, additional, Yotsuyanagi, Hiroshi, additional, and Kawaoka, Yoshihiro, additional

Published
2021
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382. Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Author

Schoch, Kelly, primary, Esteves, Cecilia, additional, Bican, Anna, additional, Spillmann, Rebecca, additional, Cope, Heidi, additional, McConkie-Rosell, Allyn, additional, Walley, Nicole, additional, Fernandez, Liliana, additional, Kohler, Jennefer N., additional, Bonner, Devon, additional, Reuter, Chloe, additional, Stong, Nicholas, additional, Mulvihill, John J., additional, Novacic, Donna, additional, Wolfe, Lynne, additional, Abdelbaki, Ayat, additional, Toro, Camilo, additional, Tifft, Cyndi, additional, Malicdan, May, additional, Gahl, William, additional, Liu, Pengfei, additional, Newman, John, additional, Goldstein, David B., additional, Hom, Jason, additional, Sampson, Jacinda, additional, Wheeler, Matthew T., additional, Alejandro, Mercedes E., additional, Azamian, Mahshid S., additional, Bacino, Carlos A., additional, Balasubramanyam, Ashok, additional, Burrage, Lindsay C., additional, Chao, Hsiao-Tuan, additional, Clark, Gary D., additional, Craigen, William J., additional, Dai, Hongzheng, additional, Dhar, Shweta U., additional, Emrick, Lisa T., additional, Goldman, Alica M., additional, Hanchard, Neil A., additional, Jamal, Fariha, additional, Karaviti, Lefkothea, additional, Lalani, Seema R., additional, Lee, Brendan H., additional, Lewis, Richard A., additional, Marom, Ronit, additional, Moretti, Paolo M., additional, Murdock, David R., additional, Nicholas, Sarah K., additional, Orengo, James P., additional, Posey, Jennifer E., additional, Potocki, Lorraine, additional, Rosenfeld, Jill A., additional, Samson, Susan L., additional, Scott, Daryl A., additional, Tran, Alyssa A., additional, Vogel, Tiphanie P., additional, Wangler, Michael F., additional, Yamamoto, Shinya, additional, Eng, Christine M., additional, Ward, Patricia A., additional, Behrens, Edward, additional, Deardorff, Matthew, additional, Falk, Marni, additional, Hassey, Kelly, additional, Sullivan, Kathleen, additional, Vanderver, Adeline, additional, Schoch, Kelly, additional, Shashi, Vandana, additional, Smith, Edward C., additional, Spillmann, Rebecca C., additional, Sullivan, Jennifer A., additional, Tan, Queenie K.-G., additional, Walley, Nicole M., additional, Agrawal, Pankaj B., additional, Beggs, Alan H., additional, Berry, Gerard T., additional, Briere, Lauren C., additional, Cobban, Laurel A., additional, Coggins, Matthew, additional, Cooper, Cynthia M., additional, Fieg, Elizabeth L., additional, High, Frances, additional, Holm, Ingrid A., additional, Korrick, Susan, additional, Krier, Joel B., additional, Lincoln, Sharyn A., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, MacRae, Calum A., additional, Pallais, J.Carl, additional, Rao, Deepak A., additional, Rodan, Lance H., additional, Silverman, Edwin K., additional, Stoler, Joan M., additional, Sweetser, David A., additional, Walker, Melissa, additional, Walsh, Chris A., additional, Kelley, Emily G., additional, Kohane, Isaac S., additional, LeBlanc, Kimberly, additional, McCray, Alexa T., additional, Nagy, Anna, additional, Dasari, Surendra, additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, Morava, Eva, additional, Oglesbee, Devin, additional, Bademci, Guney, additional, Barbouth, Deborah, additional, Bivona, Stephanie, additional, Carrasquillo, Olveen, additional, Chang, Ta Chen Peter, additional, Forghani, Irman, additional, Grajewski, Alana, additional, Isasi, Rosario, additional, Lam, Byron, additional, Levitt, Roy, additional, Liu, Xue Zhong, additional, McCauley, Jacob, additional, Sacco, Ralph, additional, Saporta, Mario, additional, Schaechter, Judy, additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Zuchner, Stephan, additional, Colley, Heather A., additional, Dayal, Jyoti G., additional, Eckstein, David J., additional, Findley, Laurie C., additional, Krasnewich, Donna M., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, LaMoure, Grace L., additional, Goldrich, Madison P., additional, Urv, Tiina K., additional, Doss, Argenia L., additional, Acosta, Maria T., additional, Bonnenmann, Carsten, additional, D’Souza, Precilla, additional, Draper, David D., additional, Ferreira, Carlos, additional, Godfrey, Rena A., additional, Groden, Catherine A., additional, Macnamara, Ellen F., additional, Maduro, Valerie V., additional, Markello, Thomas C., additional, Nath, Avi, additional, Pusey, Barbara N., additional, Wahl, Colleen E., additional, Baker, Eva, additional, Burke, Elizabeth A., additional, Adams, David R., additional, Gahl, William A., additional, Malicdan, May Christine V., additional, Tifft, Cynthia J., additional, Wolfe, Lynne A., additional, Yang, John, additional, Power, Bradley, additional, Gochuico, Bernadette, additional, Huryn, Laryssa, additional, Latham, Lea, additional, Davis, Joie, additional, Mosbrook-Davis, Deborah, additional, Rossignol, Francis, additional, Solomon, Ben, additional, MacDowall, John, additional, Thurm, Audrey, additional, Zein, Wadih, additional, Yousef, Muhammad, additional, Adam, Margaret, additional, Amendola, Laura, additional, Bamshad, Michael, additional, Beck, Anita, additional, Bennett, Jimmy, additional, Berg-Rood, Beverly, additional, Blue, Elizabeth, additional, Boyd, Brenna, additional, Byers, Peter, additional, Chanprasert, Sirisak, additional, Cunningham, Michael, additional, Dipple, Katrina, additional, Doherty, Daniel, additional, Earl, Dawn, additional, Glass, Ian, additional, Golden-Grant, Katie, additional, Hahn, Sihoun, additional, Hing, Anne, additional, Hisama, Fuki M., additional, Horike-Pyne, Martha, additional, Jarvik, Gail P., additional, Jarvik, Jeffrey, additional, Jayadev, Suman, additional, Lam, Christina, additional, Maravilla, Kenneth, additional, Mefford, Heather, additional, Merritt, J.Lawrence, additional, Mirzaa, Ghayda, additional, Nickerson, Deborah, additional, Raskind, Wendy, additional, Rosenwasser, Natalie, additional, Scott, C.Ron, additional, Sun, Angela, additional, Sybert, Virginia, additional, Wallace, Stephanie, additional, Wener, Mark, additional, Wenger, Tara, additional, Ashley, Euan A., additional, Bejerano, Gill, additional, Bernstein, Jonathan A., additional, Coakley, Terra R., additional, Fisher, Paul G., additional, Fresard, Laure, additional, Huang, Yong, additional, Kravets, Elijah, additional, Majcherska, Marta M., additional, Martin, Beth A., additional, Marwaha, Shruti, additional, McCormack, Colleen E., additional, Raja, Archana N., additional, Reuter, Chloe M., additional, Ruzhnikov, Maura, additional, Sampson, Jacinda B., additional, Smith, Kevin S., additional, Sutton, Shirley, additional, Tabor, Holly K., additional, Tucker, Brianna M., additional, Zastrow, Diane B., additional, Zhao, Chunli, additional, Byrd, William E., additional, Crouse, Andrew B., additional, Might, Matthew, additional, Nakano-Okuno, Mariko, additional, Whitlock, Jordan, additional, Brown, Gabrielle, additional, Butte, Manish J., additional, Dell’Angelica, Esteban C., additional, Dorrani, Naghmeh, additional, Douine, Emilie D., additional, Fogel, Brent L., additional, Gutierrez, Irma, additional, Huang, Alden, additional, Krakow, Deborah, additional, Lee, Hane, additional, Loo, Sandra K., additional, Mak, Bryan C., additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, McGee, Elisabeth, additional, Nelson, Stanley F., additional, Nieves-Rodriguez, Shirley, additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Renteria, Genecee, additional, Signer, Rebecca H., additional, Sinsheimer, Janet S., additional, Wan, Jijun, additional, Wang, Lee-kai, additional, Perry, Katherine Wesseling, additional, Woods, Jeremy D., additional, Alvey, Justin, additional, Andrews, Ashley, additional, Bale, Jim, additional, Bohnsack, John, additional, Botto, Lorenzo, additional, Carey, John, additional, Pace, Laura, additional, Longo, Nicola, additional, Marth, Gabor, additional, Moretti, Paolo, additional, Quinlan, Aaron, additional, Velinder, Matt, additional, Viskochil, Dave, additional, Bayrak-Toydemir, Pinar, additional, Mao, Rong, additional, Westerfield, Monte, additional, Brokamp, Elly, additional, Duncan, Laura, additional, Hamid, Rizwan, additional, Kennedy, Jennifer, additional, Kozuira, Mary, additional, Newman, John H., additional, Phillips, John A., additional, Rives, Lynette, additional, Robertson, Amy K., additional, Solem, Emily, additional, Cogan, Joy D., additional, Cole, F. Sessions, additional, Hayes, Nichole, additional, Kiley, Dana, additional, Sisco, Kathy, additional, Wambach, Jennifer, additional, Wegner, Daniel, additional, Baldridge, Dustin, additional, Pak, Stephen, additional, Schedl, Timothy, additional, Shin, Jimann, additional, Solnica-Krezel, Lilianna, additional, and Cogan, Joy, additional

Published
2021
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385. The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones

Author

Mulvihill, John J., Findley, Laura, Ni, Weihong, Sinsheimer, Janet S., Cole, F. Session, Esteves, Cecilia, Bernstein, Jonathan A., Newman, John H., Wheeler, Matthew T., Mokry, Jill R., Acosta, Maria T., Adams, David R., Afzali, Ben, Al-Beshri, Ali, Allworth, Aimee, Alvarez, Raquel L., Alvey, Justin, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Borja, Nicholas, Botto, Lorenzo, Briere, Lauren C., Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Callaway, Kaitlin, Carey, John, Carvalho, George, Cassini, Thomas, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Corner, Brian, Corona, Rosario I., Craigen, William J., Crouse, Andrew B., Cuddapah, Vishnu, Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Delgado, Margaret, Dell’Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Douglas, Jessica, Douine, Emilie D., Earl, Dawn, Emrick, Lisa T., Eng, Christine M., Ezell, Kimberly, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Fu, Jiayu, Gahl, William A., Ganetzky, Rebecca, Glanton, Emily, Glass, Ian, Goddard, Page C., Gonzalez, Joanna M., Gropman, Andrea, Halley, Meghan C., Hamid, Rizwan, Hanchard, Neal, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yan, Hurst, Anna, Introne, Wendy, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Marie, Orpa Jean-, Jobanputra, Vaidehi, Kaitryn, Emerald, Kanca, Oguz, Karasozen, Yigit, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korf, Bruce, Korrick, Susan, Krakow, Deborah, Kravets, Elijah, Lalani, Seema R., Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Latchman, Kumarie, LeBlanc, Kimberly, Lee, Brendan H., Lewis, Richard A., Liu, Pengfei, Longo, Nicola, Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, Audrey Stephannie, Mahoney, Rachel, Malicdan, May Christine V., Mao, Rong, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McConkie-Rosell, Allyn, McCray, Alexa T., Might, Matthew, Mikati, Mohamad, Miller, Danny, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Morimoto, Marie, Mulvihill, John J., Nakano-Okuno, Mariko, Nelson, Stanley F., Neumann, Serena, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Parker, Neil H., Peart, LéShon, Petcharet, Leoyklang, Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Rajagopalan, Ramakrishnan, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Rebelo, Adriana, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rodriguez, Martin, Rosenfeld, Jill A., Rosenthal, Elizabeth, Rossignol, Francis, Ruzhnikov, Maura, Sabaii, Marla, Sampson, Jacinda B., Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Seto, Elaine, Shashi, Vandana, Shelkowitz, Emily, Sheppeard, Sam, Shin, Jimann, Silverman, Edwin K., Sisco, Kathy, Skelton, Tammi, Skraban, Cara, Smith, Carson A., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stergachis, Andrew, Stoler, Joan M., Sullivan, Kathleen, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tarakad, Arjun, Taylor, Herman, Tekin, Mustafa, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Walley, Nicole M., Wambach, Jennifer, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Wood, Heidi, Worley, Kim, Yamamoto, Shinya, Zhang, Zhe, and Zuchner, Stephan

Abstract

Can certain characteristics identify as solvable some undiagnosed patients who seek extensive evaluation and thorough record review, such as by the Undiagnosed Diseases Network (UDN)?

Published
2024
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386. A Lake at the Mt. Fuji (Lake Motosu) Recording Prolonged Negative Arctic Oscillation as Reduction of Aeolian Dust Due To Westerly Pathways During the Holocene

Author

Nemoto, Karin, Yokoyama, Yusuke, Obrochta, Stephen P., Miyairi, Yosuke, Fujiwara, Osamu, Yamamoto, Shinya, Nakamura, Atsunori, Hubert‐Ferrari, Aurélia, Heyvaert, Vanessa, and Batist, Marc

Abstract

East Asia is a major source of dust accounting for 20% of the global dust emission. Work on reconstructing past changes in dust transport in East Asia is complicated by difficulties in distinguishing local sedimentation from aerial material and lack of suitable material for age determination. Here, we address these issues and present a new dust proxy record from Lake Motosu, located on the Pacific side of Japan. The record is anchored by a high‐quality tephra and radiocarbon chronology. Because Lake Motosu is situated in a quartz‐free basaltic volcanic province, all quartz deposited in the lake is likely to be aerially sourced, and variations in quartz content should reflect past changes in dust transport. Our new record detects a low dust deposition event from 3.0 to 2.0 ka. This event corresponds to elevated sea surface temperature in the Sea of Japan and climate conditions similar to a negative phase of the Arctic Oscillation, indicating an association with the weakened Westerlies and with less frequent dust storms in the source region. The increase in spatial resolution of past dust transport reconstructions will further improve our understanding of the mechanism related to dust emission from East Asia. One potential proxy for understanding past changes in atmospheric conditions is aeolian dust. The climate variability links between non‐contiguous geographic regions and strong constraints on geological ages are required to better contribute to the understanding of dust transport. Here, the dust deposition history of the past 8,000 years at Lake Motosu was obtained by quantitative X‐ray diffraction analysis to determine the amount of quartz in the sediments. There is no local source of quartz to Lake Motosu, so we consider that quartz is transported to the lake in the atmosphere. The amount of dust deposition to the Lake Motosu has persistently decreased between 3 and 2 thousand ago. This sustained decrease in dust deposition may be caused by conditions similar to a negative phase of the Arctic Oscillation. This interpretation is consistent with other proxy records from East Asia. Dust deposition history of the past 8 kyr at Lake Motosu was obtained by quantifying quartz amount by X‐ray diffraction analysisReduced amounts of dust accumulation are recognized between 3 and 2 ka, suggesting the Westerlies were away from Lake MotosuClimate conditions similar to a negative phase of the Arctic Oscillation may be the cause of the sustained decrease in dust deposition Dust deposition history of the past 8 kyr at Lake Motosu was obtained by quantifying quartz amount by X‐ray diffraction analysis Reduced amounts of dust accumulation are recognized between 3 and 2 ka, suggesting the Westerlies were away from Lake Motosu Climate conditions similar to a negative phase of the Arctic Oscillation may be the cause of the sustained decrease in dust deposition

Published
2024
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387. Development of an automated extraction and radiocarbon dating method for fossil pollen deposited in lake Motosu, Japan

Author

Ota, Kosuke, Yokoyama, Yusuke, Miyairi, Yosuke, Obrochta, Stephen P., Yamamoto, Shinya, Hubert-Ferrari, A., Heyvaert, V.M.A., Batist, Marc De, and Fujiwara, Osamu

Abstract

Recently, radiocarbon (14C) dating methods using fossil pollen extracted from sediments with a flow cytometer (cell sorter) are under development. Technical limitations experienced by previous studies required extraction of grains <80 μm in diameter. Thus, obtaining a sufficient mass of carbon for dating requires extracting a very large number (∼105) of grains. Another challenge faced by earlier work was preventing contamination by exotic carbon during the extraction process. Here we present a novel solution to this problem by using a cell sorter with a newly designed pretreatment method and an improved extraction method. This enables us to extract large pollen fossils than was previously possible. By using grains, >100 μm in diameter, such as Pinussp., we have reduced the number of grains for required for 14C dating by an order of magnitude, particularly when considering the recent advances in measure ultra-small carbon masses on a single-stage accelerator mass spectrometer at the Atmosphere and Ocean Research Institute, University of Tokyo. We then apply this method to sediments recovered from Lake Motosu, which already has a very robust chronology, to evaluate the new method. Results indicate the method is successful and reveal temporal radiocarbon reservoir effects that appear related to the changes in the depositional environment and/or hydroclimate. The method presented here is widely applicable across multiple environments.

Published
2024
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388. Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder

Author

Kohler, Jennefer N., Legro, Nicole R., Baldridge, Dustin, Shin, Jimann, Bowman, Angela, Ugur, Berrak, Jackstadt, Madelyn M., Shriver, Leah P., Patti, Gary J., Zhang, Bo, Feng, Wenjia, McAdow, Anthony R., Goddard, Pagé, Ungar, Rachel A., Jensen, Tanner, Smith, Kevin S., Fresard, Laure, Alvarez, Raquel, Bonner, Devon, Reuter, Chloe M., McCormack, Colleen, Kravets, Elijah, Marwaha, Shruti, Holt, James M., Acosta, Maria T., Adam, Margaret, Adams, David R., Alvarez, Raquel L., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Sessions Cole, F., Colley, Heather A., Cope, Heidi, Corner, Brian, Corona, Rosario, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Dell’Angelica, Esteban C., Dickson, Patricia, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Ezell, Kimberly, Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Goddard, Page C., Godfrey, Rena A., Golden-Grant, Katie, Grajewski, Alana, Hadley, Don, Hahn, Sihoun, Halley, Meghan C., Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Karaviti, Lefkothea, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Kozuira, Mary, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, AudreyStephannie, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Lawrence Merritt, J., Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Mulvihill, John, Nakano-Okuno, Mariko, Nelson, Stanley F., Neumann, Serena, Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Carl Pallais, J., Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Ron Scott, C., Seto, Elaine, Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Kathleen, Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tarakad, Arjun, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wallace, Stephanie, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Yang, John, Zhang, Zhe, Zuchner, Stephan, Worthey, Elizabeth A., Ashley, Euan A., Montgomery, Stephen B., Fisher, Paul G., Postlethwait, John, De Camilli, Pietro, Solnica-Krezel, Lila, Bernstein, Jonathan A., and Wheeler, Matthew T.

Abstract

The function of FAM177A1and its relationship to human disease is largely unknown. Recent studies have demonstrated FAM177A1to be a critical immune-associated gene. One previous case study has linked FAM177A1to a neurodevelopmental disorder in 4 siblings.

Published
2024
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390. De novo Mutations in TOMM70, a central receptor of the mitochondrial import translocase, Causes Developmental Delay and Neurological Phenotypes

Author

Debdeep Dutta, Briere, Lauren C., Marcogliese, Paul C., Oguz Kanca, A.Walker, Melissa, High, Frances A., Vanderver, Adeline, F. Nora Vögtle, Krier, Joel, Nikkola Carmichael, Christine. Callahan, Taft, Ryan J., Simons, Cas, Helman, Guy, Wangler, Michael F., Yamamoto, Shinya, Sweetser, David A., and Bellen, Hugo J

Subjects
ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, ComputingMethodologies_GENERAL
Abstract

Presentation of poster 2086A at TAGC 2020 Online. Files include a PDF of the poster (2086A_Dutta_TAGC2020.PDF)

Published
2020
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392. BICRA, a SWI/SNF complex member, is associated with a novel BAFopathy

Author

Barish, Scott, Ugur, Berrak, Valencia, Alfredo, Mashtalir, Nazar, Cigall Kadoch, Scott, Daryl A., Wangler, Michael F., Yamamoto, Shinya, and Bellen, Hugo J.

Subjects
enzymes and coenzymes (carbohydrates), cells, genetic processes, macromolecular substances, biological phenomena, cell phenomena, and immunity
Abstract

SWI/SNF-related intellectual disability disorders (SSRIDDs) are rare but severe neurodevelopmental disorders that are characterized by developmental disability, hypoplasia of the fifth digit, and coarse facial features. Variants in the members of the SWI/SNF chromatin remodeling complex cause SSRIDDs. Through the Undiagnosed Disease Network (UDN) and GeneMatcher we identified 12 individuals with symptoms similar to CSS, who carries a de novo frameshift allele in the gene BRD4 Interacting Chromatin Remodeling Complex Associated protein (BICRA), a non-canonical member of the SWI/SNF complex, not previously connected to disease. Here we present the first functional characterization of the Drosophila homolog of BICRA, bicra, and correspondingly the first functional characterization the non-canonical SWI/SNF complex in vivo. We show that Bicra binds to other non-canonical SWI/SNF complex members and is broadly expressed in neurons and glia in the nervous system. We demonstrate that, unlike other SWI/SNF complex members, loss of bicra is a dominant enhancer of position effect variegation at telomeres. bicra mutants also exhibit climbing defects at day 1 and live only for one week, both of which can be rescued by the genomic locus. Finally, we show that bicra plays a critical role in glia via RNAi knockdown. Together our data show that BICRA is a SWI/SNF complex member whose loss leads to a novel SSRIDD.

Published
2020
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393. Functional assessment of de novo missense variants associated with Autism Spectrum Disorders through an overexpression-based screen in Drosophila

Author

Harnish, Jacob Michael, Yamamoto, Shinya, Deal, Samantha, Andrews, Jonathan, and Marcogliese, Paul

Abstract

Whole-exome sequencing (WES) is becoming less expensive and more widespread as research and diagnostic tools for human diseases. WES identifies hundreds of rare variants in an individual’s genome that needs to be interpreted by human geneticists and clinicians. However, current in silico tools are insufficient to predict the pathogenicity of many missense variants. This becomes especially problematic when undertaking large sequencing efforts to uncover rare variants that contribute to the pathology of relatively common conditions. For example, numerous recent efforts have uncovered rare gene variants associated with intellectual/developmental disabilities and Autism Spectrum Disorder (ASD), but thousands of de novo variants are missense variants that are of unknown significance. Here, we utilize an overexpression-based screen in Drosophila to investigate several such de novo missense variants identified in the Simons Simplex Collection (SSC), a large cohort of over 2,500 ASD simplex families. Using this method, we prioritized 78 genes and generated UAS-human cDNA transgenic lines that allow exogenous expression of reference or variant alleles in flies. From these experiments we discovered 22 gene variants (28%) which had a scorable phenotypic difference between overexpression of the variant and reference allele. These data strongly suggest these variants have a consequence on gene function and may contribute to the pathogenicity of ASD.

Published
2020
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395. PROCEEDINGS OF THE 8TH JAPAN-CHINA TEACHER EDUCATION CONFERENCE : Papers from the 8th Japan-China Teacher Education Conference,held on November 9th and 10th, 2019,at Hyogo University of Teacher Education, JAPAN : under the theme of 'Teacher Education corresponding to Change in School Education'

Author

SAKAGUCHI, Masayasu, TSUDA, Seisuke, IKEDA, Masafumi, YAMAMOTO, Shinya, TOKUSHIMA, Yuya, SAKAUE, Hiroaki, IZUMIMURA, Yasuji, ZHANG, Shudong, LIU, Junli, CHEN, Chunhui, ZHAO, Libo, LIU, Fan, LI, Yingtao, MORI, Yasuhiko, KINOSHITA, Mitsuji, FUJIHARA, Nobuhiko, WAKAI, Yukari, PAN, Yuejuan, YANG, Qingqing, WU, Niwen, LIU, Shanshan, FENG, Wanzhen, GU, Changwei, LI, Xiaohua, OMOTE, Akihiro, TOKIE, Noriko, VESIKULA, Adi Lamawanaivalu, YIN, Yali, SHI, Junqi, KITA, Yoko, SHIOJI, Akiko, YUJI, Hiroki, TAMURA, Takahiro, SONE, Naoto, SASAKI, Akira, YASUDA, Yoshito, AKIHARA, Yu, ODA, Toshiaki, YAMAMOTO, Tadashi, SOGABE, Akitoshi, TOKIE, Lisa, OGAWA, Miyoko, OKUMURA, Yoshimi, YOTSUMOTO, Terumichi, The Local Organizing Committee of the 8th Japan-China Teacher Education Conference, Hyogo University of Teacher Education, Beijing Normal University, Naruto University of Education, and Joetsu University of Education

Abstract

A Study of the Development and Implementation of the Graduate-Level Teacher Training: In Collaboration with the Prefectural Programme / SAKAGUCHI Masayasu, TSUDA Seisuke, IKEDA Masafumi, YAMAMOTO Shinya, TOKUSHIMA Yuya, SAKAUE Hiroaki, IZUMIMURA Yasuji, A Survey of the Mental Health of Chinese Special Education Teachers / ZHANG Shudong, LIU Junli, CHEN Chunhui, ZHAO Libo, The Redefinition of Teachers’ Roles in the Age of AI:An Analysis of the Chinese Discourse / LIU Fan, LI Yingtao, Development of Micro-teaching with Reask Model and Investigation of its Effect / MORI Yasuhiko, KINOSHITA Mitsuji, FUJIHARA Nobuhiko, WAKAI Yukari, Patterns of kindergarten leaders' instructional coaching and their association with instructional leadership / PAN Yuejuan, YANG Qingqing, WU Niwen, LIU Shanshan, The Problem and Its Solving of Teaching Quality in Kindergarten Visual Arts Education and Kindergarten Teacher Education: Based on the Exploration of Pedagogical Content Knowledge / FENG Wanzhen, Teaching Research on Improving Preschool Education Students' P. E Implementation Ability from the Perspective of Core Competencies / GU Changwei, The Practice System of Peiping Preschool Education Normal School and Its Contemporary Significance / LI Xiaohua, A Classroom and Teacher Self-efficacy:Affordances for the Instructional Speech / OMOTE Akihiro, A Study of Cross-Disciplinary Learning Based Music Lesson Programs: Referencing a Case Study of an American Teacher’s College / TOKIE Noriko, The Need for Contextualization of Education for Sustainable Development (ESD) – A Study of ESD in Fiji and Japan Improving Problem Solving as a skill of ESD in Science Classrooms in Fiji / VESIKULA Adi Lamawanaivalu, Quantitative research on TPACK status and development strategies of secondary school teachers under the background of "Internet + education" / YIN Yali, The Application of Facilitation in Humanist Teacher Education：Consideration of A Practical Method of Teacher Education / SHI Junqi, Fostering University Students’ Teaching Skills through Learner-centered Instruction -Effective Usage of ICT / KITA Yoko, A study on formulation of early childhood education teachers’ capabilities to arrange the educational environment / SHIOJI Akiko, YUJI Hiroki, TAMURA Takahiro, KINOSHITA Mitsuji, FUJIHARA Nobuhiko, SONE Naoto, SASAKI Akira, Study of career guidance in intellectual disabilities special support schoo: employment support practice in care, etc. / YASUDA Yoshito, Difference in physical fitness and body composition by habits of physical activity in Japanese junior high school students / AKIHARA Yu, ODA Toshiaki, YAMAMOTO Tadashi, SOGABE Akitoshi, An Examination of Primary Education Music Lesson Planning Based on a Workshop Case Study / TOKIE Lisa, The Effect of Drama Education on Communication Skills: In the Case of Japanese High School Students / OGAWA Miyoko, A Study of Teachers’ Professional Development through Lesson Study: A Focus on the Use of One Page Portfolio Assessment (OPPA) / OKUMURA Yoshimi

Published
2019

397. Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Author

Oláhová, Monika, Yoon, Wan Hee, Thompson, Kyle, Jangam, Sharayu, Fernandez, Liliana, Davidson, Jean M., Kyle, Jennifer E., Grove, Megan E., Fisk, Dianna G., Kohler, Jennefer N., Holmes, Matthew, Dries, Annika M., Huang, Yong, Zhao, Chunli, Contrepois, Kévin, Zappala, Zachary, Frésard, Laure, Waggott, Daryl, Zink, Erika M., Kim, Young-Mo, Heyman, Heino M., Stratton, Kelly G., Webb-Robertson, Bobbie-Jo M., Snyder, Michael, Merker, Jason D., Montgomery, Stephen B., Fisher, Paul G., Feichtinger, René G., Mayr, Johannes A., Hall, Julie, Barbosa, Ines A., Simpson, Michael A., Deshpande, Charu, Waters, Katrina M., Koeller, David M., Metz, Thomas O., Morris, Andrew A., Schelley, Susan, Cowan, Tina, Friederich, Marisa W., McFarland, Robert, Van Hove, Johan L.K., Enns, Gregory M., Yamamoto, Shinya, Ashley, Euan A., Wangler, Michael F., Taylor, Robert W., Bellen, Hugo J., Bernstein, Jonathan A., and Wheeler, Matthew T.

Subjects
Male, hyperammonemia, oxidative phosphorylation, fibroblast, Metabolic Diseases, Loss of Function Mutation, Report, Humans, Amino Acid Sequence, Child, model organism, Alleles, Base Sequence, Infant, Newborn, Infant, complex V, Mitochondrial Proton-Translocating ATPases, Mitochondria, mitochondrial disease, lactic acidosis, Protein Subunits, Child, Preschool, Mutation, 3-methylglutaric aciduria, ATP synthase, Female, exome sequencing
Abstract

ATP synthase, H+ transporting, mitochondrial F1 complex, δ subunit (ATP5F1D; formerly ATP5D) is a subunit of mitochondrial ATP synthase and plays an important role in coupling proton translocation and ATP production. Here, we describe two individuals, each with homozygous missense variants in ATP5F1D, who presented with episodic lethargy, metabolic acidosis, 3-methylglutaconic aciduria, and hyperammonemia. Subject 1, homozygous for c.245C>T (p.Pro82Leu), presented with recurrent metabolic decompensation starting in the neonatal period, and subject 2, homozygous for c.317T>G (p.Val106Gly), presented with acute encephalopathy in childhood. Cultured skin fibroblasts from these individuals exhibited impaired assembly of F1FO ATP synthase and subsequent reduced complex V activity. Cells from subject 1 also exhibited a significant decrease in mitochondrial cristae. Knockdown of Drosophila ATPsynδ, the ATP5F1D homolog, in developing eyes and brains caused a near complete loss of the fly head, a phenotype that was fully rescued by wild-type human ATP5F1D. In contrast, expression of the ATP5F1D c.245C>T and c.317T>G variants rescued the head-size phenotype but recapitulated the eye and antennae defects seen in other genetic models of mitochondrial oxidative phosphorylation deficiency. Our data establish c.245C>T (p.Pro82Leu) and c.317T>G (p.Val106Gly) in ATP5F1D as pathogenic variants leading to a Mendelian mitochondrial disease featuring episodic metabolic decompensation.

Published
2018

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