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1. Contributors

Author

A.A. Sam, A.A. Shah, AL. Ramanathan, A. Abeynayaka, A. Akber, A. Mukhopadhyay, A. Qadir, Ajit Kumar Vidyarthi, Alejandra Reyes-Márquez, Alok Kumar Thakur, Alok Sagar Gautam, Ana Laura Cervantes Nájera, Anisha Shajan, Arindam Malakar, Arjun Gautam, Arpah bt. Abu Bakar, Arthur James Rathinam, Ash Pachauri, Asmita Deep, Atul Rawat, Balaji Vedharajan, Banajarani Panda, Barbara Kovács, Basanta Baral, Binaya Kumar Mishra, Canesio D. Predo, Chandani Appadoo, D.T. Hung, D. Aaisyah, Damasa B. Magcale-Macandog, Deepak Khare, Deepak Singh, Dhanu Radha Samayamanthula, Drishya Pathak, E. Haramoto, Eri Ikeda, Eugenia López-López, Fadila Al-Salameen, Farhana Zakir, Fatima A. Natuel, Francisco Muñoz Arriola, G. Gnanachandrasamy, Goutham Bharathi, Guadalupe M. Austria-Ortíz, Harish Chandra Nainwal, Henciya Santhaseelan, Jagriti Jain, John Vincent R. Pleto, Joseph G. Campang, José Soto, Juana López-Martínez, Juan Carlos Campos Benhumea, Juan Mayorga, K. Shankar, K. Sirikanchana, Karan Singh, Khandkar-Siddikur Rahman, Komal Mittal, Lubaba Khan, M.V. Prasanna, M. Kitajima, M. Mahalakshmi, M. Navia, M. Tsudaka, Ma. Grechelle Lyn D. Perez, Madhavi Latha Kone, Mahfuza Zaman Ela, Manish Kumar, Mariko Yokoo, Martín Vera Martínez, María Concepción Martínez Rodríguez, Md. Nasif Ahsan, Md. Nazrul Islam, Md. Tanvir Hossain, Montaha Behbehani, Mukta Akter, Mustafa Moinuddin, Muthukumar Krishnan, N.Q. Dinh, N.T.T. Huong, N. Devaraj, Nandakumar Janardhanan, Nazima Habibi, Neha Jaiswal, Nethanel Jireh A. Larida, Norma Patricia Muñoz Sevilla, Nusrat Jahan, P. Ragavan, Pankaj Kumar, Pham Ngoc Bao, Philo Magdalene A, Prabhat Ranjan, Prasun Kumar Gupta, Prosun Bhattacharya, Punarbasu Chaudhuri, R.S. Negi, R. Shalaby, R. Thilagavathi, Rajeev Issar, Ram Kumar, Ravi Bhandari, Ritika Mandhyan, Rozina Akter, Sabarathinam Chidambaram, S. Jayakumar, S. Sahari, Saif Uddin, Sanjeev Kumar, Santhosh Gokul Murugaiah, Sarena Grace L. Quiñones, Sergio Aguíñiga-García, Shailly Kedia, Shamik Chakraborty, Shresth Tayal, Sivakumar Kannan, Sivaperuman Chandrakasan, Sivapuram V.R.K. Prabhakar, Somya Bhatt, Subarna Bhattacharyya, Sudesh Yadav, Suniti Parashar, Sushil Kumar, Swati Singh, T. Setiadi, T. Takeda, Taposhi Rabya Lima, Taufiq-E-Ahmed Shovo, Usha Mina, Vengateshwaran Thasu Dinakaran, Vijeta Rattani, Vu Duc Canh, Xin Zhou, and Yves Christian L. Cabillon

Published
2021
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2. Decreased number of Gemini of coiled bodies and U12 snRNA level in amyotrophic lateral sclerosis

Author

Hitoshi Takahashi, Taisuke Kato, Yukari Miki, Chun Feng Tan, Masatoyo Nishizawa, Yuko Ariizumi, Akihide Koyama, Atsushi Shiga, Akiyoshi Kakita, Tatsuya Sato, Akio Yokoseki, Takeshi Fujino, Osamu Onodera, Tomohiko Ishihara, and Mariko Yokoo

Subjects
Cerebellum, Spliceosome, RNA Splicing, Biology, Real-Time Polymerase Chain Reaction, Thalamus, RNA, Small Nuclear, Genetics, medicine, Humans, snRNP, Amyotrophic lateral sclerosis, Molecular Biology, Cells, Cultured, Genetics (clinical), Motor Neurons, Amyotrophic Lateral Sclerosis, Motor Cortex, SMN Complex Proteins, General Medicine, Spinal muscular atrophy, Ribonucleoproteins, Small Nuclear, medicine.disease, Molecular biology, DNA-Binding Proteins, Cell nucleus, Gemini of Coiled Bodies, medicine.anatomical_structure, Spinal Cord, RNA splicing, Small nuclear RNA, HeLa Cells
Abstract

Disappearance of TAR-DNA-binding protein 43 kDa (TDP-43) from the nucleus contributes to the pathogenesis of amyotrophic lateral sclerosis (ALS), but the nuclear function of TDP-43 is not yet fully understood. TDP-43 associates with nuclear bodies including Gemini of coiled bodies (GEMs). GEMs contribute to the biogenesis of uridine-rich small nuclear RNA (U snRNA), a component of splicing machinery. The number of GEMs and a subset of U snRNAs decrease in spinal muscular atrophy, a lower motor neuron disease, suggesting that alteration of U snRNAs may also underlie the molecular pathogenesis of ALS. Here, we investigated the number of GEMs and U11/12-type small nuclear ribonucleoproteins (snRNP) by immunohistochemistry and the level of U snRNAs using real-time quantitative RT-PCR in ALS tissues. GEMs decreased in both TDP-43-depleted HeLa cells and spinal motor neurons in ALS patients. Levels of several U snRNAs decreased in TDP-43-depleted SH-SY5Y and U87-MG cells. The level of U12 snRNA was decreased in tissues affected by ALS (spinal cord, motor cortex and thalamus) but not in tissues unaffected by ALS (cerebellum, kidney and muscle). Immunohistochemical analysis revealed the decrease in U11/12-type snRNP in spinal motor neurons of ALS patients. These findings suggest that loss of TDP-43 function decreases the number of GEMs, which is followed by a disturbance of pre-mRNA splicing by the U11/U12 spliceosome in tissues affected by ALS.

Published
2013
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