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5. CT Image Segmentation Using Structural Analysis

Author

Hishida, Hiroyuki, Michikawa, Takashi, Ohtake, Yutaka, Suzuki, Hiromasa, Oota, Satoshi, Hutchison, David, Series editor, Kanade, Takeo, Series editor, Kittler, Josef, Series editor, Kleinberg, Jon M., Series editor, Mattern, Friedemann, Series editor, Mitchell, John C., Series editor, Naor, Moni, Series editor, Nierstrasz, Oscar, Series editor, Pandu Rangan, C., Series editor, Steffen, Bernhard, Series editor, Sudan, Madhu, Series editor, Terzopoulos, Demetri, Series editor, Tygar, Doug, Series editor, Vardi, Moshe Y., Series editor, Weikum, Gerhard, Series editor, Bebis, George, editor, Boyle, Richard, editor, Parvin, Bahram, editor, Koracin, Darko, editor, Chung, Ronald, editor, Hammound, Riad, editor, Hussain, Muhammad, editor, Kar-Han, Tan, editor, Crawfis, Roger, editor, Thalmann, Daniel, editor, Kao, David, editor, and Avila, Lisa, editor

Published
2010
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14. The Rice Annotation Project Database (RAP-DB): 2008 update*

Author

Tanaka, Tsuyoshi, Antonio, Baltazar A., Kikuchi, Shoshi, Matsumoto, Takashi, Nagamura, Yoshiaki, Numa, Hisataka, Sakai, Hiroaki, Wu, Jianzhong, Itoh, Takeshi, Sasaki, Takuji, Aono, Ryo, Fujii, Yasuyuki, Habara, Takuya, Harada, Erimi, Kanno, Masako, Kawahara, Yoshihiro, Kawashima, Hiroaki, Kubooka, Hiromi, Matsuya, Akihiro, Nakaoka, Hajime, Saichi, Naomi, Sanbonmatsu, Ryoko, Sato, Yoshiharu, Shinso, Yuji, Suzuki, Mami, Takeda, Jun-ichi, Tanino, Motohiko, Todokoro, Fusano, Yamaguchi, Kaori, Yamamoto, Naoyuki, Yamasaki, Chisato, Imanishi, Tadashi, Okido, Toshihisa, Tada, Masahito, Ikeo, Kazuho, Tateno, Yoshio, Gojobori, Takashi, Lin, Yao-Cheng, Wei, Fu-Jin, Hsing, Yue-ie, Zhao, Qiang, Han, Bin, Kramer, Melissa R., McCombie, Richard W., Lonsdale, David, O’Donovan, Claire C., Whitfield, Eleanor J., Apweiler, Rolf, Koyanagi, Kanako O., Khurana, Jitendra P., Raghuvanshi, Saurabh, Singh, Nagendra K., Tyagi, Akhilesh K., Haberer, Georg, Fujisawa, Masaki, Hosokawa, Satomi, Ito, Yukiyo, Ikawa, Hiroshi, Shibata, Michie, Yamamoto, Mayu, Bruskiewich, Richard M., Hoen, Douglas R., Bureau, Thomas E., Namiki, Nobukazu, Ohyanagi, Hajime, Sakai, Yasumichi, Nobushima, Satoshi, Sakata, Katsumi, Barrero, Roberto A., Sato, Yutaka, Souvorov, Alexandre, Smith-White, Brian, Tatusova, Tatiana, An, Suyoung, An, Gynheung, OOta, Satoshi, Fuks, Galina, Messing, Joachim, Christie, Karen R., Lieberherr, Damien, Kim, HyeRan, Zuccolo, Andrea, Wing, Rod A., Nobuta, Kan, Green, Pamela J., Lu, Cheng, Meyers, Blake C., Chaparro, Cristian, Piegu, Benoit, Panaud, Olivier, and Echeverria, Manuel

Published
2008

15. Evola: Ortholog database of all human genes in H-InvDB with manual curation of phylogenetic trees

Author

Matsuya, Akihiro, Sakate, Ryuichi, Kawahara, Yoshihiro, Koyanagi, Kanako O., Sato, Yoshiharu, Fujii, Yasuyuki, Yamasaki, Chisato, Habara, Takuya, Nakaoka, Hajime, Todokoro, Fusano, Yamaguchi, Kaori, Endo, Toshinori, OOta, Satoshi, Makalowski, Wojciech, Ikeo, Kazuho, Suzuki, Yoshiyuki, Hanada, Kousuke, Hashimoto, Katsuyuki, Hirai, Momoki, Iwama, Hisakazu, Saitou, Naruya, Hiraki, Aiko T., Jin, Lihua, Kaneko, Yayoi, Kanno, Masako, Murakami, Katsuhiko, Noda, Akiko Ogura, Saichi, Naomi, Sanbonmatsu, Ryoko, Suzuki, Mami, Takeda, Jun-ichi, Tanaka, Masayuki, Gojobori, Takashi, Imanishi, Tadashi, and Itoh, Takeshi

Published
2008

16. Development of the Neurorobotic Mouse

Author

Lucas, Peer, Oota, Satoshi, Conradt, Jörg, and Knoll, Alois

Subjects
Robot, Mouse, NeRmo, ddc
Abstract

n this paper we describe the NeuroRobotic Mouse (NeRmo) a low-cost, modular bio mimetic robot, mimicking the actuation and walking behaviour of a common mouse (Mus musculus). This latest version has 13 Degrees of Freedom with 21 tendon driven joints and can be controlled in both open and closed loop. It is capable of different gaits as well as keeping the body upright when in a sitting position. The robot includes joint position sensors, pressure sensors on the soles of the feet as well as two cameras in the head. As the design of this robotic platform was inspired by detailed observations of the biomechanics of mice and rats, it can be used in motion research using animal data as am element of comparison, or even as actuation input.

Published
2018

18. Recurrence of Pulmonary Arteriovenous Malformation with Non-tuberculous Mycobacteria Infection Caused by Perfusion from the Pulmonary Artery and Bronchial Artery after Coil Embolization

Author

Kasai, Hajime, primary, Sugiura, Toshihiko, additional, Kobayashi, Takayuki, additional, Okamura, Risa, additional, Oota, Masayuki, additional, Harada, Nao, additional, Wada, Yoshinobu, additional, Oota, Satoshi, additional, Yoshino, Ichiro, additional, Nakatani, Yukio, additional, and Tatsumi, Koichiro, additional

Published
2019
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24. Integrative annotation of 21,037 human genes validated by full-length cDNA clones

Author

Imanishi, Tadashi, Itoh, Takeshi, Suzuki, Yutaka, O'Donovan, Claire, Fukuchi, Satoshi, Koyanagi Kanako, O., Barrero Roberto, A., Tamura, Takuro, Yamaguchi-Kabata, Yumi, Tanino, Motohiko, Yura, Kei, Miyazaki, Satoru, Ikeo, Kazuho, Homma, Keiichi, Kasprzyk, Arek, Nishikawa, Tetsuo, Hirakawa, Mika, Thierry-Mieg, Jean, Thierry-Mieg, Danielle, Ashurst, Jennifer, Jia, Libin, Nakao, Mitsuteru, Thomas, Michael, A., Mulder, Nicola, Karavidopoulou, Youla, Jin, Lihua, Kim, Sangsoo, Yasuda, Tomohiro, Lenhard, Boris, Eveno, Eric, Suzuki, Yoshiyuki, Takeda, Jun-Ichi, Gough, Craig, Hilton, Phillip, Fujii, Yasuyuki, Sakai, Hiroaki, Tanaka, Susumu, Amid, Clara, Bellgard, Matthew, de Fatima Bonaldo, Maria, Bono, Hidemasa, Bromberg Susan, K., Brookes Anthony, J., Bruford, Elspeth, Carninci, Piero, Chelala, Claude, Couillault, Christine, de Souza Sandro, J., Debily, Marie-Anne, Devignes, Marie-Dominique, Dubchak, Inna, Endo, Toshinori, Estreicher, Anne, Eyras, Eduardo, Fukami-Kobayashi, Kaoru, Gopinath Gopal, R., Graudens, Esther, Hahn, Yoonsoo, Han, Ze-Guang, Han, Michael, Hanada, Kousuke, Hanaoka, Hideki, Harada, Erimi, Hashimoto, Katsuyuki, Yamasaki, Chisato, Hinz, Ursula, Hirai, Momoki, Hishiki, Teruyoshi, Hopkinson, Ian, Imbeaud, Sandrine, Inoko, Hidetoshi, Kanapin, Alexander, Kaneko, Yayoi, Kasukawa, Takeya, Kelso, Janet, Kersey, Paul, Kikuno, Reiko, Kimura, Kouichi, Korn, Bernhard, Kuryshev, Vladimir, Makalowska, Izabela, Makino, Takashi, Mano, Shuhei, Mariage-Samson, Regine, Mashima, Jun, Matsuda, Hideo, Mewes, Hans-Werner, Minoshima, Shinsei, Nagai, Keiichi, Nagasaki, Hideki, Nagata, Naoki, Nigam, Rajni, Ogasawara, Osamu, Ohara, Osamu, Ohtsubo, Masafumi, Okada, Norihiro, Okido, Toshihisa, Oota, Satoshi, Ota, Motonori, Ota, Toshio, Otsuki, Tetsuji, Piatier-Tonneau, Dominique, Poustka, Annemarie, Ren, Shuang-Xi, Saitou, Naruya, Sakai, Katsunaga, Sakamoto, Shigetaka, Sakate, Ryuichi, Schupp, Ingo, Servant, Florence, Sherry, Stephen, Shiba, Rie, Sugano, Sumio, Knowledge representation, reasonning (ORPAILLEUR), INRIA Lorraine, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Laboratoire Lorrain de Recherche en Informatique et ses Applications (LORIA), Centre National de la Recherche Scientifique (CNRS)-Institut National Polytechnique de Lorraine (INPL)-Université Nancy 2-Université Henri Poincaré - Nancy 1 (UHP)-Institut National de Recherche en Informatique et en Automatique (Inria)-Centre National de la Recherche Scientifique (CNRS)-Institut National Polytechnique de Lorraine (INPL)-Université Nancy 2-Université Henri Poincaré - Nancy 1 (UHP), Genexpress, Centre National de la Recherche Scientifique (CNRS), The University of Tokyo (UTokyo), and Institut National de Recherche en Informatique et en Automatique (Inria)-Université Henri Poincaré - Nancy 1 (UHP)-Université Nancy 2-Institut National Polytechnique de Lorraine (INPL)-Centre National de la Recherche Scientifique (CNRS)-Université Henri Poincaré - Nancy 1 (UHP)-Université Nancy 2-Institut National Polytechnique de Lorraine (INPL)-Centre National de la Recherche Scientifique (CNRS)

Subjects
human transcriptome, annotation, [INFO.INFO-OH]Computer Science [cs]/Other [cs.OH], full-length cdna, transcriptome humain, cdna complet
Abstract

publication en ligne. Article dans revue scientifique avec comité de lecture. nationale.; National audience; The human genome sequence defines our inherent biological potential; the realization of the biology encoded therein requires knowledge of the function of each gene. Currently, our knowledge in this area is still limited. Several lines of investigation have been used to elucidate the structure and function of the genes in the human genome. Even so, gene prediction remains a difficult task, as the varieties of transcripts of a gene may vary to a great extent. We thus performed an exhaustive integrative characterization of 41,118 full-length cDNAs that capture the gene transcripts as complete functional cassettes, providing an unequivocal report of structural and functional diversity at the gene level. Our international collaboration has validated 21,037 human gene candidates by analysis of high-quality full-length cDNA clones through curation using unified criteria. This led to the identification of 5,155 new gene candidates. It also manifested the most reliable way to control the quality of the cDNA clones. We have developed a human gene database, called the H-Invitational Database (H-InvDB; http://www.h-invitational.jp/). It provides the following: integrative annotation of human genes, description of gene structures, details of novel alternative splicing isoforms, non-protein-coding RNAs, functional domains, subcellular localizations, metabolic pathways, predictions of protein three-dimensional structure, mapping of known single nucleotide polymorphisms (SNPs), identification of polymorphic microsatellite repeats within human genes, and comparative results with mouse full-length cDNAs. The H-InvDB analysis has shown that up to 4% of the human genome sequence (National Center for Biotechnology Information build 34 assembly) may contain misassembled or missing regions. We found that 6.5% of the human gene candidates (1,377 loci) did not have a good protein-coding open reading frame, of which 296 loci are strong candidates for non-protein-coding RNA genes. In addition, among 72,027 uniquely mapped SNPs and insertions/deletions localized within human genes, 13,215 nonsynonymous SNPs, 315 nonsense SNPs, and 452 indels occurred in coding regions. Together with 25 polymorphic microsatellite repeats present in coding regions, they may alter protein structure, causing phenotypic effects or resulting in disease. The H-InvDB platform represents a substantial contribution to resources needed for the exploration of human biology and pathology.

Published
2004

25. Curated genome annotation of Oryza sativa ssp. japonica and comparative genome analysis with Arabidopsis thaliana : The Rice Annotation Project

Author

Itoh, Takeshi, Tanaka, Tsuyoshi, Barrero, Roberto A., Yamasaki, Chisato, Fujii, Yasuyuki, Hilton, Phillip B., Antonio, Baltazar A., Aono, Hideo, Apweiler, Rolf, Bruskiewich, Richard, Bureau, Thomas, Burr, Frances, De Oliveira, Antonio Costa, Fuks, Galina, Habara, Takuya, Haberer, Georg, Han, Bin, Harada, Erimi, Hiraki, Aiko T., Hirochika, Hirohiko, Hoen, Douglas, Hokari, Hiroki, Hosokawa, Satomi, Hsing, Yue Ie, Ikawa, Hiroshi, Ikeo, Kazuho, Imanishi, Tadashi, Ito, Yukiyo, Jaiswal, Pankaj, Kanno, Masako, Kawahara, Yoshihiro, Kawamura, Toshiyuki, Kawashima, Hiroaki, Khurana, Jitendra P., Kikuchi, Shoshi, Komatsu, Setsuko, Koyanagi, Kanako O., Kubooka, Hiromi, Lieberherr, Damien, Lin, Yao Cheng, Lonsdale, David, Matsumoto, Takashi, Matsuya, Akihiro, McCombie, W. Richard, Messing, Joachim, Miyao, Akio, Mulder, Nicola, Nagamura, Yoshiaki, Nam, Jongmin, Namiki, Nobukazu, Numa, Hisataka, Nurimoto, Shin, O'Donovan, Claire, Ohyanagi, Hajime, Okido, Toshihisa, OOta, Satoshi, Osato, Naoki, Palmer, Lance E., Quetier, Francis, Raghuvanshi, Saurabh, Saichi, Naomi, Sakai, Hiroaki, Sakai, Yasumichi, Sakata, Katsumi, Sakurai, Tetsuya, Sato, Fumihiko, Sato, Yoshiharu, Schoof, Heiko, Seki, Motoaki, Shibata, Michie, Shimizu, Yuji, Shinozaki, Kazuo, Shinso, Yuji, Singh, Nagendra K., Smith-White, Brian, Takeda, Jun Ichi, Tanino, Motohiko, Tatusova, Tatiana, Thongjuea, Supat, Todokoro, Fusano, Tsugane, Mika, Tyagi, Akhilesh K., Vanavichit, Apichart, Wang, Aihui, Wing, Rod A., Yamaguchi, Kaori, Yamamoto, Mayu, Yamamoto, Naoyuki, Yu, Yeisoo, Zhao, Qiang, Higo, Kenichi, Burr, Benjamin, Gojobori, Takashi, Sasaki, Takuji, Itoh, Takeshi, Tanaka, Tsuyoshi, Barrero, Roberto A., Yamasaki, Chisato, Fujii, Yasuyuki, Hilton, Phillip B., Antonio, Baltazar A., Aono, Hideo, Apweiler, Rolf, Bruskiewich, Richard, Bureau, Thomas, Burr, Frances, De Oliveira, Antonio Costa, Fuks, Galina, Habara, Takuya, Haberer, Georg, Han, Bin, Harada, Erimi, Hiraki, Aiko T., Hirochika, Hirohiko, Hoen, Douglas, Hokari, Hiroki, Hosokawa, Satomi, Hsing, Yue Ie, Ikawa, Hiroshi, Ikeo, Kazuho, Imanishi, Tadashi, Ito, Yukiyo, Jaiswal, Pankaj, Kanno, Masako, Kawahara, Yoshihiro, Kawamura, Toshiyuki, Kawashima, Hiroaki, Khurana, Jitendra P., Kikuchi, Shoshi, Komatsu, Setsuko, Koyanagi, Kanako O., Kubooka, Hiromi, Lieberherr, Damien, Lin, Yao Cheng, Lonsdale, David, Matsumoto, Takashi, Matsuya, Akihiro, McCombie, W. Richard, Messing, Joachim, Miyao, Akio, Mulder, Nicola, Nagamura, Yoshiaki, Nam, Jongmin, Namiki, Nobukazu, Numa, Hisataka, Nurimoto, Shin, O'Donovan, Claire, Ohyanagi, Hajime, Okido, Toshihisa, OOta, Satoshi, Osato, Naoki, Palmer, Lance E., Quetier, Francis, Raghuvanshi, Saurabh, Saichi, Naomi, Sakai, Hiroaki, Sakai, Yasumichi, Sakata, Katsumi, Sakurai, Tetsuya, Sato, Fumihiko, Sato, Yoshiharu, Schoof, Heiko, Seki, Motoaki, Shibata, Michie, Shimizu, Yuji, Shinozaki, Kazuo, Shinso, Yuji, Singh, Nagendra K., Smith-White, Brian, Takeda, Jun Ichi, Tanino, Motohiko, Tatusova, Tatiana, Thongjuea, Supat, Todokoro, Fusano, Tsugane, Mika, Tyagi, Akhilesh K., Vanavichit, Apichart, Wang, Aihui, Wing, Rod A., Yamaguchi, Kaori, Yamamoto, Mayu, Yamamoto, Naoyuki, Yu, Yeisoo, Zhao, Qiang, Higo, Kenichi, Burr, Benjamin, Gojobori, Takashi, and Sasaki, Takuji

Abstract

We present here the annotation of the complete genome of rice Oryza sativa L. ssp. japonica cultivar Nipponbare. All functional annotations for proteins and non-protein-coding RNA (npRNA) candidates were manually curated. Functions were identified or inferred in 19,969 (70%) of the proteins, and 131 possible npRNAs (including 58 antisense transcripts) were found. Almost 5000 annotated protein-coding genes were found to be disrupted in insertional mutant lines, which will accelerate future experimental validation of the annotations. The rice loci were determined by using cDNA sequences obtained from rice and other representative cereals. Our conservative estimate based on these loci and an extrapolation suggested that the gene number of rice is ∼32,000, which is smaller than previous estimates. We conducted comparative analyses between rice and Arabidopsis thaliana and found that both genomes possessed several lineage-specific genes, which might account for the observed differences between these species, while they had similar sets of predicted functional domains among the protein sequences. A system to control translational efficiency seems to be conserved across large evolutionary distances. Moreover, the evolutionary process of protein-coding genes was examined. Our results suggest that natural selection may have played a role for duplicated genes in both species, so that duplication was suppressed or favored in a manner that depended on the function of a gene.

Published
2007

26. Curated genome annotation of Oryza sativa ssp. japonica and comparative genome analysis with Arabidopsis thaliana

Author

Itoh, Takeshi, Tanaka, Tsuyoshi, Barrero, Roberto A., Yamasaki, Chisato, Fujii, Yasuyuki, Hilton, Phillip B., Antonio, Baltazar A., Aono, Hideo, Apweiler, Rolf, Bruskiewich, Richard, Bureau, Thomas, Burr, Frances, Costa de Oliveira, Antonio, Fuks, Galina, Habara, Takuya, Haberer, Georg, Han, Bin, Harada, Erimi, Hiraki, Aiko T., Hirochika, Hirohiko, Hoen, Douglas, Hokari, Hiroki, Hosokawa, Satomi, Hsing, Yue, Ikawa, Hiroshi, Ikeo, Kazuho, Imanishi, Tadashi, Ito, Yukiyo, Jaiswal, Pankaj, Kanno, Masako, Kawahara, Yosihiro, Kawamura, Toshiyuki, Kawashima, Hiroaki, Khurana, Jitendra P., Kikuchi, Shoshi, Komatsu, Setsuko, Koyanagi, Kanako O., Kubooka, Hiromi, McCombie, W. Richard, Messing, Joachim, Miyao, Akio, Mulder, Nicola, Nagamura, Yoshiaki, Nam, Jongmin, Namiki, Nobukazu, Numa, Hisataka, Nurimoto, Shin, O'Donovan, Claire, Ohyanagi, Hajimi, Liberherr, Damien, Lin, Yao-Cheng, Lonsdale, David, Matsumoto, Takashi, Matsuya, Akihiro, Okido, Toshihisa, OOta, Satoshi, Osato, Naoki, Palmer, Lance E., Quetier, Francis, Raghuvanshi, Surabh, Saichi, Naomi, Sakai, Hiroaki, Sakai, Yasumichi, Sakata, Katsumi, Sakurai, Tetsuya, Sato, Fumihiko, Sato, Yoshiharu, Schoof, Heiko, Seki, Motoaki, Shibata, Katsumi, Shibata, Michie, Shimizu, Yuji, Shinozaki, Kazuo, Shinso, Yuji, Singh, Nagendra K., Smith-White, Brian, Takeda, Jun-ichi, Tanino, Motohiko, Tatusova, Tatiana, Thongjuea, Supat, Todokoro, Fusano, Tsugane, Mika, Tyagi, Akhilesh K., Vanavichit, Apichart, Wang, Aihui, Wing, Rod A., Yamaguchi, Kaori, Yamamoto, Mayu, Yamamoto, Naoyuki, Yu, Yeisoo, Zhang, Hao, Zhao, Qiang, Higo, Kenichi, Burr, Benjamin, Gojobori, Takashi, Saski, Takuji, Itoh, Takeshi, Tanaka, Tsuyoshi, Barrero, Roberto A., Yamasaki, Chisato, Fujii, Yasuyuki, Hilton, Phillip B., Antonio, Baltazar A., Aono, Hideo, Apweiler, Rolf, Bruskiewich, Richard, Bureau, Thomas, Burr, Frances, Costa de Oliveira, Antonio, Fuks, Galina, Habara, Takuya, Haberer, Georg, Han, Bin, Harada, Erimi, Hiraki, Aiko T., Hirochika, Hirohiko, Hoen, Douglas, Hokari, Hiroki, Hosokawa, Satomi, Hsing, Yue, Ikawa, Hiroshi, Ikeo, Kazuho, Imanishi, Tadashi, Ito, Yukiyo, Jaiswal, Pankaj, Kanno, Masako, Kawahara, Yosihiro, Kawamura, Toshiyuki, Kawashima, Hiroaki, Khurana, Jitendra P., Kikuchi, Shoshi, Komatsu, Setsuko, Koyanagi, Kanako O., Kubooka, Hiromi, McCombie, W. Richard, Messing, Joachim, Miyao, Akio, Mulder, Nicola, Nagamura, Yoshiaki, Nam, Jongmin, Namiki, Nobukazu, Numa, Hisataka, Nurimoto, Shin, O'Donovan, Claire, Ohyanagi, Hajimi, Liberherr, Damien, Lin, Yao-Cheng, Lonsdale, David, Matsumoto, Takashi, Matsuya, Akihiro, Okido, Toshihisa, OOta, Satoshi, Osato, Naoki, Palmer, Lance E., Quetier, Francis, Raghuvanshi, Surabh, Saichi, Naomi, Sakai, Hiroaki, Sakai, Yasumichi, Sakata, Katsumi, Sakurai, Tetsuya, Sato, Fumihiko, Sato, Yoshiharu, Schoof, Heiko, Seki, Motoaki, Shibata, Katsumi, Shibata, Michie, Shimizu, Yuji, Shinozaki, Kazuo, Shinso, Yuji, Singh, Nagendra K., Smith-White, Brian, Takeda, Jun-ichi, Tanino, Motohiko, Tatusova, Tatiana, Thongjuea, Supat, Todokoro, Fusano, Tsugane, Mika, Tyagi, Akhilesh K., Vanavichit, Apichart, Wang, Aihui, Wing, Rod A., Yamaguchi, Kaori, Yamamoto, Mayu, Yamamoto, Naoyuki, Yu, Yeisoo, Zhang, Hao, Zhao, Qiang, Higo, Kenichi, Burr, Benjamin, Gojobori, Takashi, and Saski, Takuji

Abstract

We present here the annotation of the complete genome of rice Oryza sativa L. ssp. japonica cultivar Nipponbare. All functional annotations for proteins and non-protein-coding RNA (npRNA) candidates were manually curated. Functions were identified or inferred in 19,969 (70%) of the proteins, and 131 possible npRNAs (including 58 antisense transcripts) were found. Almost 5000 annotated protein-coding genes were found to be disrupted in insertional mutant lines, which will accelerate future experimental validation of the annotations. The rice loci were determined by using cDNA sequences obtained from rice and other representative cereals. Our conservative estimate based on these loci and an extrapolation suggested that the gene number of rice is ~32,000, which is smaller than previous estimates. We conducted comparative analyses between rice and Arabidopsis thaliana and found that both genomes possessed several lineage-specific genes, which might account for the observed differences between these species, while they had similar sets of predicted functional domains among the protein sequences. A system to control translational efficiency seems to be conserved across large evolutionary distances. Moreover, the evolutionary process of protein-coding genes was examined. Our results suggest that natural selection may have played a role for duplicated genes in both species, so that duplication was suppressed or favored in a manner that depended on the function of a gene.

Published
2007

28. Integrative annotation of 21,037 human genes validated by full-length cDNA clones

Author

Richard Roberts, Imanishi, Tadashi, Itoh, Takeshi, Suzuki, Yutaka, O'Donovan, Claire, Fukuchi, Satoshi, Koyanagi, Kanako O, Barrero, Roberto A, Tamura, Takuro, Yamaguchi-Kabata, Yumi, Tanino, Motohiko, Yura, Kei, Miyazaki, Satoru, Ikeo, Kazuho, Homma, Keiichi, Kasprzyk, Arek, Nishikawa, Tetsuo, Hirakawa, Mika, Thierry-Mieg, Jean, Thierry-Mieg, Danielle, Ashurst, Jennifer, Jia, Libin, Nakao, Mitsuteru, Thomas, Michael A, Mulder, Nicola, Karavidopoulou, Youla, Jin, Lihua, Kim, Sangsoo, Yasuda, Tomohiro, Lenhard, Boris, Eveno, Eric, Suzuki, Yoshiyuki, Yamasaki, Chisato, Takeda, Jun-ichi, Gough, Craig, Hilton, Phillip, Fujii, Yasuyuki, Sakai, Hiroaki, Tanaka, Susumu, Amid, Clara, Bellgard, Matthew, Bonaldo, Maria de Fatima, Bono, Hidemasa, Bromberg, Susan K, Brookes, Anthony J, Bruford, Elspeth, Carninci, Piero, Chelala, Claude, Couillault, Christine, Souza, Sandro J. de, Debily, Marie-Anne, Devignes, Marie-Dominique, Dubchak, Inna, Endo, Toshinori, Estreicher, Anne, Eyras, Eduardo, Fukami-Kobayashi, Kaoru, R. Gopinath, Gopal, Graudens, Esther, Hahn, Yoonsoo, Han, Michael, Han, Ze-Guang, Hanada, Kousuke, Hanaoka, Hideki, Harada, Erimi, Hashimoto, Katsuyuki, Hinz, Ursula, Hirai, Momoki, Hishiki, Teruyoshi, Hopkinson, Ian, Imbeaud, Sandrine, Inoko, Hidetoshi, Kanapin, Alexander, Kaneko, Yayoi, Kasukawa, Takeya, Kelso, Janet, Kersey, Paul, Kikuno, Reiko, Kimura, Kouichi, Korn, Bernhard, Kuryshev, Vladimir, Makalowska, Izabela, Makino, Takashi, Mano, Shuhei, Mariage-Samson, Regine, Mashima, Jun, Matsuda, Hideo, Mewes, Hans-Werner, Minoshima, Shinsei, Nagai, Keiichi, Nagasaki, Hideki, Nagata, Naoki, Nigam, Rajni, Ogasawara, Osamu, Ohara, Osamu, Ohtsubo, Masafumi, Okada, Norihiro, Okido, Toshihisa, Oota, Satoshi, Ota, Motonori, Ota, Toshio, Otsuki, Tetsuji, Piatier-Tonneau, Dominique, Poustka, Annemarie, Ren, Shuang-Xi, Saitou, Naruya, Sakai, Katsunaga, Sakamoto, Shigetaka, Sakate, Ryuichi, Schupp, Ingo, Servant, Florence, Sherry, Stephen, Shiba, Rie, Shimizu, Nobuyoshi, Shimoyama, Mary, Simpson, Andrew J, Soares, Bento, Steward, Charles, Suwa, Makiko, Suzuki, Mami, Takahashi, Aiko, Tamiya, Gen, Tanaka, Hiroshi, Taylor, Todd, Terwilliger, Joseph D, Unneberg, Per, Veeramachaneni, Vamsi, Watanabe, Shinya, Wilming, Laurens, Yasuda, Norikazu, Yoo, Hyang-Sook, Stodolsky, Marvin, Makalowski, Wojciech, Go, Mitiko, Nakai, Kenta, Takagi, Toshihisa, Kanehisa, Minoru, Sakaki, Yoshiyuki, Quackenbush, John, Okazaki, Yasushi, Hayashizaki, Yoshihide, Hide, Winston, Chakraborty, Ranajit, Nishikawa, Ken, Sugawara, Hideaki, Tateno, Yoshio, Chen, Zhu, Oishi, Michio, Tonellato, Peter, Apweiler, Rolf, Okubo, Kousaku, Wagner, Lukas, Wiemann, Stefan, Strausberg, Robert L, Isogai, Takao, Auffray, Charles, Nomura, Nobuo, Gojobori, Takashi, Sugano, Sumio, Richard Roberts, Imanishi, Tadashi, Itoh, Takeshi, Suzuki, Yutaka, O'Donovan, Claire, Fukuchi, Satoshi, Koyanagi, Kanako O, Barrero, Roberto A, Tamura, Takuro, Yamaguchi-Kabata, Yumi, Tanino, Motohiko, Yura, Kei, Miyazaki, Satoru, Ikeo, Kazuho, Homma, Keiichi, Kasprzyk, Arek, Nishikawa, Tetsuo, Hirakawa, Mika, Thierry-Mieg, Jean, Thierry-Mieg, Danielle, Ashurst, Jennifer, Jia, Libin, Nakao, Mitsuteru, Thomas, Michael A, Mulder, Nicola, Karavidopoulou, Youla, Jin, Lihua, Kim, Sangsoo, Yasuda, Tomohiro, Lenhard, Boris, Eveno, Eric, Suzuki, Yoshiyuki, Yamasaki, Chisato, Takeda, Jun-ichi, Gough, Craig, Hilton, Phillip, Fujii, Yasuyuki, Sakai, Hiroaki, Tanaka, Susumu, Amid, Clara, Bellgard, Matthew, Bonaldo, Maria de Fatima, Bono, Hidemasa, Bromberg, Susan K, Brookes, Anthony J, Bruford, Elspeth, Carninci, Piero, Chelala, Claude, Couillault, Christine, Souza, Sandro J. de, Debily, Marie-Anne, Devignes, Marie-Dominique, Dubchak, Inna, Endo, Toshinori, Estreicher, Anne, Eyras, Eduardo, Fukami-Kobayashi, Kaoru, R. Gopinath, Gopal, Graudens, Esther, Hahn, Yoonsoo, Han, Michael, Han, Ze-Guang, Hanada, Kousuke, Hanaoka, Hideki, Harada, Erimi, Hashimoto, Katsuyuki, Hinz, Ursula, Hirai, Momoki, Hishiki, Teruyoshi, Hopkinson, Ian, Imbeaud, Sandrine, Inoko, Hidetoshi, Kanapin, Alexander, Kaneko, Yayoi, Kasukawa, Takeya, Kelso, Janet, Kersey, Paul, Kikuno, Reiko, Kimura, Kouichi, Korn, Bernhard, Kuryshev, Vladimir, Makalowska, Izabela, Makino, Takashi, Mano, Shuhei, Mariage-Samson, Regine, Mashima, Jun, Matsuda, Hideo, Mewes, Hans-Werner, Minoshima, Shinsei, Nagai, Keiichi, Nagasaki, Hideki, Nagata, Naoki, Nigam, Rajni, Ogasawara, Osamu, Ohara, Osamu, Ohtsubo, Masafumi, Okada, Norihiro, Okido, Toshihisa, Oota, Satoshi, Ota, Motonori, Ota, Toshio, Otsuki, Tetsuji, Piatier-Tonneau, Dominique, Poustka, Annemarie, Ren, Shuang-Xi, Saitou, Naruya, Sakai, Katsunaga, Sakamoto, Shigetaka, Sakate, Ryuichi, Schupp, Ingo, Servant, Florence, Sherry, Stephen, Shiba, Rie, Shimizu, Nobuyoshi, Shimoyama, Mary, Simpson, Andrew J, Soares, Bento, Steward, Charles, Suwa, Makiko, Suzuki, Mami, Takahashi, Aiko, Tamiya, Gen, Tanaka, Hiroshi, Taylor, Todd, Terwilliger, Joseph D, Unneberg, Per, Veeramachaneni, Vamsi, Watanabe, Shinya, Wilming, Laurens, Yasuda, Norikazu, Yoo, Hyang-Sook, Stodolsky, Marvin, Makalowski, Wojciech, Go, Mitiko, Nakai, Kenta, Takagi, Toshihisa, Kanehisa, Minoru, Sakaki, Yoshiyuki, Quackenbush, John, Okazaki, Yasushi, Hayashizaki, Yoshihide, Hide, Winston, Chakraborty, Ranajit, Nishikawa, Ken, Sugawara, Hideaki, Tateno, Yoshio, Chen, Zhu, Oishi, Michio, Tonellato, Peter, Apweiler, Rolf, Okubo, Kousaku, Wagner, Lukas, Wiemann, Stefan, Strausberg, Robert L, Isogai, Takao, Auffray, Charles, Nomura, Nobuo, Gojobori, Takashi, and Sugano, Sumio

Abstract

The human genome sequence defines our inherent biological potential; the realization of the biology encoded therein requires knowledge of the function of each gene. Currently, our knowledge in this area is still limited. Several lines of investigation have been used to elucidate the structure and function of the genes in the human genome. Even so, gene prediction remains a difficult task, as the varieties of transcripts of a gene may vary to a great extent. We thus performed an exhaustive integrative characterization of 41,118 full-length cDNAs that capture the gene transcripts as complete functional cassettes, providing an unequivocal report of structural and functional diversity at the gene level. Our international collaboration has validated 21,037 human gene candidates by analysis of high-quality full-length cDNA clones through curation using unified criteria. This led to the identification of 5,155 new gene candidates. It also manifested the most reliable way to control the quality of the cDNA clones. We have developed a human gene database, called the H-Invitational Database (H-InvDB; http://www.h-invitational.jp/). It provides the following: integrative annotation of human genes, description of gene structures, details of novel alternative splicing isoforms, non-protein-coding RNAs, functional domains, subcellular localizations, metabolic pathways, predictions of protein three-dimensional structure, mapping of known single nucleotide polymorphisms (SNPs), identification of polymorphic microsatellite repeats within human genes, and comparative results with mouse full-length cDNAs. The H-InvDB analysis has shown that up to 4% of the human genome sequence (National Center for Biotechnology Information build 34 assembly) may contain misassembled or missing regions. We found that 6.5% of the human gene candidates (1,377 loci) did not have a good protein-coding open reading frame, of which 296 loci are strong candidates for non-protein-coding RNA genes. In addition

Published
2004

36. Unique Inbred Strain MSM/Ms Established from the Japanese Wild Mouse

Author

MORIWAKI, Kazuo, primary, MIYASHITA, Nobumoto, additional, MITA, Akihiko, additional, GOTOH, Hideo, additional, TSUCHIYA, Kimiyuki, additional, KATO, Hideki, additional, MEKADA, Kazuyuki, additional, NORO, Chikako, additional, OOTA, Satoshi, additional, YOSHIKI, Atsushi, additional, OBATA, Yuichi, additional, YONEKAWA, Hiromichi, additional, and SHIROISHI, Toshihiko, additional

Published
2009
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43. Autotaxin concentrations in peritoneal dialysis effluent reflect peritoneal function.

Author

Horikoshi K, Sakai N, Oshima M, Yamauchi H, Ikeda M, Hayashi K, Yanagisawa H, Yamamori F, Kajikawa S, Hayashi D, Koshino A, Sako K, Yuasa T, Tamai A, Minami T, Nakagawa S, Kitajima S, Toyama T, Hara A, Shimizu M, Oota S, Ishida Y, Wada T, and Iwata Y

Abstract

Introduction: Peritoneal equilibration test (PET) has been used to monitor peritoneal function. A more convenient marker would be useful in clinical situations including home medical care. Autotaxin is known to leak into the interstitium as vascular permeability increases during the progression of tissue fibrosis. Therefore, we hypothesized that autotaxin concentrations in peritoneal dialysis (PD) effluent might reflect peritoneal function., Methods: This study enrolled 45 patients undergoing PD from 2016 to 2021. Autotaxin concentrations measured in PD effluent were evaluated for their associations with markers obtained from PET., Results: Mean age was 69 years, and 33 patients were men. Univariate and multivariate analyses revealed that autotaxin concentrations are associated with dialysate/plasma creatinine ratio, end/start dialysate glucose ratio, and the dip in the dialysate sodium concentration, a marker of ultrafiltration capacity, at baseline (all p < 0.05)., Conclusions: Autotaxin concentrations in PD effluent might be an adjunct marker that reflects peritoneal function., (© 2024 International Society for Apheresis and Japanese Society for Apheresis.)

Published
2024
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44. [Case of sarcoidosis with squamous cell carcinoma which originated from solitary bronchial papilloma].

Author

Urushiyama H, Yamauchi Y, Suzuki S, Sunohara M, Kouyama T, Ohishi N, Fukami T, Nakajima J, Ushiku T, Oota S, Fukayama M, and Nagase T

Subjects
Bronchial Neoplasms diagnosis, Bronchial Neoplasms pathology, Bronchoscopy, Carcinoma, Squamous Cell diagnosis, Carcinoma, Squamous Cell pathology, Diagnosis, Differential, Humans, Lung Neoplasms diagnosis, Lung Neoplasms pathology, Male, Middle Aged, Papilloma diagnosis, Papilloma pathology, Positron-Emission Tomography, Sarcoidosis, Pulmonary diagnosis, Sarcoidosis, Pulmonary pathology, Tomography, X-Ray Computed, Bronchial Neoplasms complications, Carcinoma, Squamous Cell complications, Lung Neoplasms complications, Neoplasms, Multiple Primary, Papilloma complications, Sarcoidosis, Pulmonary complications
Abstract

A 60-year-old man was given a clinical diagnosis of sarcoidosis, with enlarged mediastinal and hilar lymphadenopathy by chest CT, high levels of angiotensin-converting enzyme, and gallium scintigraphy findings. After 2 years follow-up, chest CT showed that only the right superior lobe bronchial lymph node had enlarged, occluding the right B1 bronchus, but other enlarged lymph nodes had not changed in size. We performed bronchoscopy to evaluate the occlusion of the right B1 bronchus, and recognized a polypoid lesion. Transbronchial tumor biopsy specimens revealed squamous cell lung carcinoma. A right upper lobectomy and drainage of the hilar and mediastinal lymph regions were performed. Histopathological examination revealed the coexistence of squamous cell carcinoma with many non-caseating epithelioid cell granulomas in all hilar and mediastinal drainage lymph nodes, but no metastasis. Non-caseating epithelioid cell granulomas were also seen in the lung interstitium. Histopathological examination suggested that the squamous cell carcinoma originated from a solitary bronchial papilloma. A diagnosis of lung cancer complicated with sarcoidosis was difficult by clinical imaging alone, including FDG-PET/CT. This suggests the importance of bronchoscopic examination, if a clinical course of the disease appears to be different from the usual course. This was a rare case of squamous cell carcinoma which originated from a solitary bronchial papilloma.

Published
2010

45. Curated genome annotation of Oryza sativa ssp. japonica and comparative genome analysis with Arabidopsis thaliana.

Author

Itoh T, Tanaka T, Barrero RA, Yamasaki C, Fujii Y, Hilton PB, Antonio BA, Aono H, Apweiler R, Bruskiewich R, Bureau T, Burr F, Costa de Oliveira A, Fuks G, Habara T, Haberer G, Han B, Harada E, Hiraki AT, Hirochika H, Hoen D, Hokari H, Hosokawa S, Hsing YI, Ikawa H, Ikeo K, Imanishi T, Ito Y, Jaiswal P, Kanno M, Kawahara Y, Kawamura T, Kawashima H, Khurana JP, Kikuchi S, Komatsu S, Koyanagi KO, Kubooka H, Lieberherr D, Lin YC, Lonsdale D, Matsumoto T, Matsuya A, McCombie WR, Messing J, Miyao A, Mulder N, Nagamura Y, Nam J, Namiki N, Numa H, Nurimoto S, O'Donovan C, Ohyanagi H, Okido T, Oota S, Osato N, Palmer LE, Quetier F, Raghuvanshi S, Saichi N, Sakai H, Sakai Y, Sakata K, Sakurai T, Sato F, Sato Y, Schoof H, Seki M, Shibata M, Shimizu Y, Shinozaki K, Shinso Y, Singh NK, Smith-White B, Takeda J, Tanino M, Tatusova T, Thongjuea S, Todokoro F, Tsugane M, Tyagi AK, Vanavichit A, Wang A, Wing RA, Yamaguchi K, Yamamoto M, Yamamoto N, Yu Y, Zhang H, Zhao Q, Higo K, Burr B, Gojobori T, and Sasaki T

Subjects
Arabidopsis Proteins genetics, Codon genetics, DNA, Complementary genetics, DNA, Plant genetics, Databases, Protein, Evolution, Molecular, Genetic Variation, Mutagenesis, Insertional, Open Reading Frames, Plant Proteins genetics, RNA, Messenger genetics, RNA, Plant genetics, RNA, Transfer genetics, Species Specificity, Arabidopsis genetics, Genome, Plant, Oryza genetics
Abstract

We present here the annotation of the complete genome of rice Oryza sativa L. ssp. japonica cultivar Nipponbare. All functional annotations for proteins and non-protein-coding RNA (npRNA) candidates were manually curated. Functions were identified or inferred in 19,969 (70%) of the proteins, and 131 possible npRNAs (including 58 antisense transcripts) were found. Almost 5000 annotated protein-coding genes were found to be disrupted in insertional mutant lines, which will accelerate future experimental validation of the annotations. The rice loci were determined by using cDNA sequences obtained from rice and other representative cereals. Our conservative estimate based on these loci and an extrapolation suggested that the gene number of rice is approximately 32,000, which is smaller than previous estimates. We conducted comparative analyses between rice and Arabidopsis thaliana and found that both genomes possessed several lineage-specific genes, which might account for the observed differences between these species, while they had similar sets of predicted functional domains among the protein sequences. A system to control translational efficiency seems to be conserved across large evolutionary distances. Moreover, the evolutionary process of protein-coding genes was examined. Our results suggest that natural selection may have played a role for duplicated genes in both species, so that duplication was suppressed or favored in a manner that depended on the function of a gene.

Published
2007
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46. Proceedings of the SMBE Tri-National Young Investigators' Workshop 2005. Genome-wide search of gene conversions in duplicated genes of mouse and rat.

Author

Ezawa K, OOta S, and Saitou N

Subjects
Alleles, Animals, Codon, DNA, Complementary metabolism, Gene Conversion, Genetic Linkage, Mice, Peptides chemistry, Rats, Species Specificity, Gene Duplication, Genome
Abstract

Gene conversion is considered to play important roles in the formation of genomic makeup such as homogenization of multigene families and diversification of alleles. We devised two statistical tests on quartets for detecting gene conversion events. Each "quartet" consists of two pairs of orthologous sequences supposed to have been generated by a duplication event and a subsequent speciation of two closely related species. As example data, EnsEMBL mouse and rat cDNA sequences were used to obtain a genome-wide picture of gene conversion events. We extensively sampled 2,641 quartets that appear to have resulted from duplications after the divergence of primates and rodents and before mouse-rat speciation. Combination of our new tests with Sawyer's and Takahata's tests enhanced the detection sensitivity while keeping false positives as few as possible. About 18% (488 quartets) were shown to be highly positive for gene conversion using this combined test. Out of them, 340 (13% of the total) showed signs of gene conversion in mouse sequence pairs. Those gene conversion-positive gene pairs are mostly linked in the same chromosomes, with the proportion of positive pairs in the linked and unlinked categories being 15% and 1%, respectively. Statistical analyses showed that (1) the susceptibility to gene conversion correlates negatively with the physical distance, especially the frequency of 29% was observed for gene pairs whose distances are smaller than 55 kb; (2) the occurrence of gene conversions does not depend on the transcriptional direction; (3) small gene families consisting of between three and six contiguous genes are highly prone to gene conversion; and (4) frequency of gene conversions greatly varies depending on functional categories, and cadherins favor gene conversion, while vomeronasal receptors type 1 and immunoglobulin V-type proteins disfavor it. These findings will be useful to deepen the understanding of the roles of gene conversion.

Published
2006
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47. Integrative annotation of 21,037 human genes validated by full-length cDNA clones.

Author

Imanishi T, Itoh T, Suzuki Y, O'Donovan C, Fukuchi S, Koyanagi KO, Barrero RA, Tamura T, Yamaguchi-Kabata Y, Tanino M, Yura K, Miyazaki S, Ikeo K, Homma K, Kasprzyk A, Nishikawa T, Hirakawa M, Thierry-Mieg J, Thierry-Mieg D, Ashurst J, Jia L, Nakao M, Thomas MA, Mulder N, Karavidopoulou Y, Jin L, Kim S, Yasuda T, Lenhard B, Eveno E, Suzuki Y, Yamasaki C, Takeda J, Gough C, Hilton P, Fujii Y, Sakai H, Tanaka S, Amid C, Bellgard M, Bonaldo Mde F, Bono H, Bromberg SK, Brookes AJ, Bruford E, Carninci P, Chelala C, Couillault C, de Souza SJ, Debily MA, Devignes MD, Dubchak I, Endo T, Estreicher A, Eyras E, Fukami-Kobayashi K, Gopinath GR, Graudens E, Hahn Y, Han M, Han ZG, Hanada K, Hanaoka H, Harada E, Hashimoto K, Hinz U, Hirai M, Hishiki T, Hopkinson I, Imbeaud S, Inoko H, Kanapin A, Kaneko Y, Kasukawa T, Kelso J, Kersey P, Kikuno R, Kimura K, Korn B, Kuryshev V, Makalowska I, Makino T, Mano S, Mariage-Samson R, Mashima J, Matsuda H, Mewes HW, Minoshima S, Nagai K, Nagasaki H, Nagata N, Nigam R, Ogasawara O, Ohara O, Ohtsubo M, Okada N, Okido T, Oota S, Ota M, Ota T, Otsuki T, Piatier-Tonneau D, Poustka A, Ren SX, Saitou N, Sakai K, Sakamoto S, Sakate R, Schupp I, Servant F, Sherry S, Shiba R, Shimizu N, Shimoyama M, Simpson AJ, Soares B, Steward C, Suwa M, Suzuki M, Takahashi A, Tamiya G, Tanaka H, Taylor T, Terwilliger JD, Unneberg P, Veeramachaneni V, Watanabe S, Wilming L, Yasuda N, Yoo HS, Stodolsky M, Makalowski W, Go M, Nakai K, Takagi T, Kanehisa M, Sakaki Y, Quackenbush J, Okazaki Y, Hayashizaki Y, Hide W, Chakraborty R, Nishikawa K, Sugawara H, Tateno Y, Chen Z, Oishi M, Tonellato P, Apweiler R, Okubo K, Wagner L, Wiemann S, Strausberg RL, Isogai T, Auffray C, Nomura N, Gojobori T, and Sugano S

Subjects
Alternative Splicing genetics, Genes genetics, Humans, Internet, Microsatellite Repeats genetics, Open Reading Frames genetics, Polymorphism, Genetic, Polymorphism, Single Nucleotide, Protein Structure, Tertiary, Computational Biology methods, DNA, Complementary genetics, Databases, Genetic, Genes physiology, Genome, Human
Abstract

The human genome sequence defines our inherent biological potential; the realization of the biology encoded therein requires knowledge of the function of each gene. Currently, our knowledge in this area is still limited. Several lines of investigation have been used to elucidate the structure and function of the genes in the human genome. Even so, gene prediction remains a difficult task, as the varieties of transcripts of a gene may vary to a great extent. We thus performed an exhaustive integrative characterization of 41,118 full-length cDNAs that capture the gene transcripts as complete functional cassettes, providing an unequivocal report of structural and functional diversity at the gene level. Our international collaboration has validated 21,037 human gene candidates by analysis of high-quality full-length cDNA clones through curation using unified criteria. This led to the identification of 5,155 new gene candidates. It also manifested the most reliable way to control the quality of the cDNA clones. We have developed a human gene database, called the H-Invitational Database (H-InvDB; http://www.h-invitational.jp/). It provides the following: integrative annotation of human genes, description of gene structures, details of novel alternative splicing isoforms, non-protein-coding RNAs, functional domains, subcellular localizations, metabolic pathways, predictions of protein three-dimensional structure, mapping of known single nucleotide polymorphisms (SNPs), identification of polymorphic microsatellite repeats within human genes, and comparative results with mouse full-length cDNAs. The H-InvDB analysis has shown that up to 4% of the human genome sequence (National Center for Biotechnology Information build 34 assembly) may contain misassembled or missing regions. We found that 6.5% of the human gene candidates (1,377 loci) did not have a good protein-coding open reading frame, of which 296 loci are strong candidates for non-protein-coding RNA genes. In addition, among 72,027 uniquely mapped SNPs and insertions/deletions localized within human genes, 13,215 nonsynonymous SNPs, 315 nonsense SNPs, and 452 indels occurred in coding regions. Together with 25 polymorphic microsatellite repeats present in coding regions, they may alter protein structure, causing phenotypic effects or resulting in disease. The H-InvDB platform represents a substantial contribution to resources needed for the exploration of human biology and pathology., Competing Interests: The authors have declared that no conflicts of interest exist.

Published
2004
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