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551. The Tabula Sapiens: A multiple-organ, single-cell transcriptomic atlas of humans

Author

Tabula Sapiens Consortium, Jones, Robert C, Karkanias, Jim, Krasnow, Mark A, Pisco, Angela Oliveira, Quake, Stephen R, Salzman, Julia, Yosef, Nir, Bulthaup, Bryan, Brown, Phillip, Harper, William, Hemenez, Marisa, Ponnusamy, Ravikumar, Salehi, Ahmad, Sanagavarapu, Bhavani A, Spallino, Eileen, Aaron, Ksenia A, Concepcion, Waldo, Gardner, James M, Kelly, Burnett, Neidlinger, Nikole, Wang, Zifa, Crasta, Sheela, Kolluru, Saroja, Morri, Maurizio, Tan, Serena Y, Travaglini, Kyle J, Xu, Chenling, Alcántara-Hernández, Marcela, Almanzar, Nicole, Antony, Jane, Beyersdorf, Benjamin, Burhan, Deviana, Calcuttawala, Kruti, Carter, Matthew M, Chan, Charles KF, Chang, Charles A, Chang, Stephen, Colville, Alex, Culver, Rebecca N, Cvijović, Ivana, D'Amato, Gaetano, Ezran, Camille, Galdos, Francisco X, Gillich, Astrid, Goodyer, William R, Hang, Yan, Hayashi, Alyssa, Houshdaran, Sahar, Huang, Xianxi, Irwin, Juan C, Jang, SoRi, Juanico, Julia Vallve, Kershner, Aaron M, Kim, Soochi, Kiss, Bernhard, Kong, William, Kumar, Maya E, Kuo, Angera H, Leylek, Rebecca, Li, Baoxiang, Loeb, Gabriel B, Lu, Wan-Jin, Mantri, Sruthi, Markovic, Maxim, McAlpine, Patrick L, de Morree, Antoine, Mrouj, Karim, Mukherjee, Shravani, Muser, Tyler, Neuhöfer, Patrick, Nguyen, Thi D, Perez, Kimberly, Phansalkar, Ragini, Puluca, Nazan, Qi, Zhen, Rao, Poorvi, Raquer-McKay, Hayley, Schaum, Nicholas, Scott, Bronwyn, Seddighzadeh, Bobak, Segal, Joe, Sen, Sushmita, Sikandar, Shaheen, Spencer, Sean P, Steffes, Lea C, Subramaniam, Varun R, Swarup, Aditi, Swift, Michael, Van Treuren, Will, Trimm, Emily, Veizades, Stefan, Vijayakumar, Sivakamasundari, and Vo, Kim Chi

Subjects
B-Lymphocytes, General Science & Technology, Cells, T-Lymphocytes, RNA Splicing, Human Genome, Tabula Sapiens Consortium, Atlases as Topic, Organ Specificity, Genetics, Humans, Generic health relevance, Single-Cell Analysis, Transcriptome, Biotechnology
Abstract

Molecular characterization of cell types using single-cell transcriptome sequencing is revolutionizing cell biology and enabling new insights into the physiology of human organs. We created a human reference atlas comprising nearly 500,000 cells from 24 different tissues and organs, many from the same donor. This atlas enabled molecular characterization of more than 400 cell types, their distribution across tissues, and tissue-specific variation in gene expression. Using multiple tissues from a single donor enabled identification of the clonal distribution of T cells between tissues, identification of the tissue-specific mutation rate in B cells, and analysis of the cell cycle state and proliferative potential of shared cell types across tissues. Cell type-specific RNA splicing was discovered and analyzed across tissues within an individual.

Published
2022

552. A New General Fatigue Limit Diagram and Its Application of Predicting Die Fatigue Life during Cold Forging

Author

Man-Soo Joun, Su-Min Ji, Wan-Jin Chung, Gue-Serb Cho, and Kwang-Hee Lee

Subjects
cold forging die, general fatigue limit diagram, high cycle fatigue fracture, die life prediction, fatigue functional exponent, General Materials Science
Abstract

Traditional fatigue fracture theory and practice focus principally on structural design. It is thus too conservative and inappropriate when used to predict the high-cycle fatigue life of dies used for metal forming, especially cold forging. We propose a novel mean stress correction model and diagram to predict the high-cycle fatigue lives of cold forging dies, which focuses on the upper part of the equivalent fatigue strength curve. Considering the features of die materials characterized by high yield strength and low ductility, a straight line is assumed for the tensile yield line. To the contrary, a general curve is used to represent the fatigue strength. They are interpolated, based on the distance ratio, when finding an appropriate equivalent fatigue strength curve at the mean stress and stress amplitude between the line and curve. The approach is applied to a well-defined literature example to verify its validity and shed light on the characteristics of die fatigue life. The approach is also applied to practical forging and useful qualitative results are obtained.

Published
2022
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553. Effects of head modeling errors on the spatial frequency representation of MEG

Author

Wan-Jin Yeo, Eric Larson, Joonas Iivanainen, Amir Borna, Jim McKay, Julia M Stephen, Peter D D Schwindt, and Samu Taulu

Subjects
Radiological and Ultrasound Technology, FOS: Physical sciences, Radiology, Nuclear Medicine and imaging, Medical Physics (physics.med-ph), Computational Physics (physics.comp-ph), Physics - Medical Physics, Physics - Computational Physics
Abstract

Objectives. We aim to investigate the effects of head model inaccuracies on signal and source reconstruction accuracies for various sensor array distances to the head. This allows for the assessment of the importance of head modeling for next-generation magnetoencephalography (MEG) sensors, optically-pumped magnetometers (OPM). Approach. A 1-shell boundary element method (BEM) spherical head model with 642 vertices of radius 9 cm and conductivity of 0.33 S m−1 was defined. The vertices were then randomly perturbed radially up to 2%, 4%, 6%, 8% and 10% of the radius. For each head perturbation case, the forward signal was calculated for dipolar sources located at 2 cm, 4 cm, 6 cm and 8 cm from the origin (center of the sphere), and for a 324 sensor array located at 10 cm to 15 cm from the origin. Equivalent current dipole (ECD) source localization was performed for each of these forward signals. The signal for each perturbed spherical head case was then analyzed in the spatial frequency domain, and the signal and ECD errors were quantified relative to the unperturbed case. Main results. In the noiseless and high signal-to-noise ratio (SNR) case of approximately ≥6 dB, inaccuracies in our spherical BEM head conductor models lead to increased signal and ECD inaccuracies when sensor arrays are placed closer to the head. This is true especially in the case of deep and superficial sources. In the noisy case however, the higher SNR for closer sensor arrays allows for an improved ECD fit and outweighs the effects of head geometry inaccuracies. Significance. OPMs may be placed directly on the head, as opposed to the more commonly used superconducting quantum interference device sensors which must be placed a few centimeters away from the head. OPMs thus allow for signals of higher spatial resolution to be captured, resulting in potentially more accurate source localizations. Our results suggest that an increased emphasis on accurate head modeling for OPMs may be necessary to fully realize its improved source localization potential.

Published
2023
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554. Comparison of the Wound Healing Effect of Cellulose and Gelatin: An In Vivo Study

Author

Bum Sik Kang, Young Cheon Na, and Young Wan Jin

Subjects
Cellulose, Gelatin, Hemostatics, Wound healing, Surgery, RD1-811
Abstract

Background Many topical hemostatics are widely applied for bleeding control. They can beclassified into two categories according to their mechanism of action on the clotting cascadein a biologically active or passive manner. Passive hemostatics include cellulose and gelatin.We performed an experimental study to compare the effect of passive hemostatics in woundhealing by applying them to a rectus abdominis muscle defect of white mice.Methods Surgicel is a sterile absorbable knitted fabric prepared by the controlled oxidationof regenerated cellulose. Spongostan is an absorbable hemostatic gelatin sponge. In 30 mice,a 1×1 cm defect was created on the rectus abdominis muscle and the materials were appliedin three ways: control group, cellulose (Surgicel) group, gelatin (Spongostan) group. For thehistologic analysis, biopsies were performed at 3 and 28 days.Results After 3 days, the cellulose group showed limited granulation formation with acuteinflammatory reactions similar to the control group. At the 28th day, moderate amountsof granulation tissue formation was observed with milder inflammatory reactions than thecontrol group. In the gelatin group, after 3 days, gelatin remnants were observed surroundedby severe inflammatory changes. After 28 days, the same quantity of gelatin remnants couldbe still observed.Conclusions This study suggests that cellulose is associated with minimal morbidity in woundhealing, while the use of gelatin shows severe adverse tissue reactions with delayed woundhealing. Consequently, cellulose is better than gelatin when considering wound healing.

Published
2012

555. Comparison of the Wound Healing Effect of Cellulose and Gelatin: An Study

Author

Bum Sik Kang, Young Cheon Na, and Young Wan Jin

Subjects
Cellulose, Gelatin, Hemostatics, Wound healing, Surgery, RD1-811
Abstract

BackgroundMany topical hemostatics are widely applied for bleeding control. They can be classified into two categories according to their mechanism of action on the clotting cascade in a biologically active or passive manner. Passive hemostatics include cellulose and gelatin. We performed an experimental study to compare the effect of passive hemostatics in wound healing by applying them to a rectus abdominis muscle defect of white mice.MethodsSurgicel is a sterile absorbable knitted fabric prepared by the controlled oxidation of regenerated cellulose. Spongostan is an absorbable hemostatic gelatin sponge. In 30 mice, a 1×1 cm defect was created on the rectus abdominis muscle and the materials were applied in three ways: control group, cellulose (Surgicel) group, gelatin (Spongostan) group. For the histologic analysis, biopsies were performed at 3 and 28 days.ResultsAfter 3 days, the cellulose group showed limited granulation formation with acute inflammatory reactions similar to the control group. At the 28th day, moderate amounts of granulation tissue formation was observed with milder inflammatory reactions than the control group. In the gelatin group, after 3 days, gelatin remnants were observed surrounded by severe inflammatory changes. After 28 days, the same quantity of gelatin remnants could be still observed.ConclusionsThis study suggests that cellulose is associated with minimal morbidity in wound healing, while the use of gelatin shows severe adverse tissue reactions with delayed wound healing. Consequently, cellulose is better than gelatin when considering wound healing.

Published
2012

556. The research progress of clinical diagnosis of spinal muscular atrophy

Author

Ning WANG, Jin HE, and Wan⁃jin CHEN

Subjects
Muscular atrophy, spinal, Gene deletion, Prenatal diagnosis, Review, Neurology. Diseases of the nervous system, RC346-429
Abstract

Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disease caused by degeneration of anterior horn cell in spinal cord. The clinical feature is characterized by progressive symmetrical myasthenia and amyotrophia. The disease is caused by mutation of survival motor neuron (SMN1) gene. Four clinical types are defined for SMA: type Ⅰ, Ⅱ, Ⅲ and Ⅳ. The diagnosis depends on clinical manifestation, inherited history, laboratory test and genetic analysis. To date, there is no effective treatment for SMA, so prenatal diagnosis and carrier screening are important for the prevention of this disease. DOI：10.3969/j.issn.1672⁃6731.2012.03.005

Published
2012

557. Studies on the prenatal diagnosis of spinal muscular atrophy by multiplex ligation⁃dependent probe amplification

Author

Ya⁃fang CHEN, Jin HE, Qi⁃jie ZHANG, Xiang LIN, Ning WANG, and Wan⁃jin CHEN

Subjects
Muscular atrophy, spinal, Gene deletion, Gene amplification, Prenatal diagnosis, Neurology. Diseases of the nervous system, RC346-429
Abstract

Objective To investigate the value of multiplex ligation⁃dependent probe amplification (MLPA) method in the prenatal diagnosis of spinal muscular atrophy (SMA). Methods Six SMA pedigrees, which included 7 patients, 12 parents and 6 fetuses, were admitted in our hospital. MLPA was used to detect the survival motor neuron (SMN) and other modifier genes, according to steps of hybridization, ligation, PCR reaction, fragment separation by capillary electrophoresis and peak pattern evaluation. Synchronously, the deletion of SMN1 gene was detected by polymerase chain reaction⁃restriction fragment length polymorphism (PCR⁃RFLP). The DNA samples of fetuses were collected by centrifuging the amniotic fluid as well as derived from amniotic cell culture. Results According to MLPA, 7 patients and 1 fetus were detected to carry homozygous deletion of survival motor neuron 1 (SMN1) gene, which was also detected by PCR⁃PFLP. In addition, 11 parents and 5 fetuses carried one copy of SMN1 gene, while 1 parent who was also a carrier of SMA carried two copies of SMN1 gene. Furthermore, after being analyzed by MLPA, 10 cases carried one copy of SMN2 gene, while 15 cases had two copies of SMN2 gene. After detecting the neuronal apoptosis inhibitory protein (NAIP) gene, 3 cases had the deletion of NAIP gene while others showed normal. Conclusion MLPA can detect the deletion and quantify the copy numbers of SMN and other modifier genes, improving the efficiency and stability of genetic diagnosis. It is adequate for detecting patients and carriers of SMA, as well as providing reliable evidence for genetic counseling. DOI：10.3969/j.issn.1672⁃6731.2012.03.012

Published
2012

565. Global urban environmental change drives adaptation in white clover

Author

Santangelo, James S., Ness, Rob W., Cohan, Beata, Fitzpatrick, Connor R., Innes, Simon G., Koch, Sophie, Miles, Lindsay S., Munim, Samreen, Peres-Neto, Pedro R., Prashad, Cindy, Tong, Alex T., Aguirre, Windsor E., Akinwole, Philips O., Alberti, Marina, Alvarez, Jackie, Anderson, Jill T., Anderson, Joseph J., Ando, Yoshino, Andrew, Nigel R., Angeoletto, Fabio, Anstett, Daniel N., Anstett, Julia, Aoki-Goncalves, Felipe, Arietta, A. Z. Andis, Arroyo, Mary T. K., Austen, Emily J., Baena-Diaz, Fernanda, Barker, Cory A., Baylis, Howard A., Beliz, Julia M., Benitez-Mora, Alfonso, Bickford, David, Biedebach, Gabriela, Blackburn, Gwylim S., Boehm, Mannfred M. A., Bonser, Stephen P., Bonte, Dries, Bragger, Jesse R., Branquinho, Cristina, Brans, Kristien, I, Bresciano, Jorge C., Brom, Peta D., Bucharova, Anna, Burt, Briana, Cahill, James F., Campbell, Katelyn D., Carlen, Elizabeth J., Carmona, Diego, Castellanos, Maria Clara, Centenaro, Giada, Chalen, Izan, Chaves, Jaime A., Chavez-Pesqueira, Mariana, Chen, Xiao-Yong, Chilton, Angela M., Chomiak, Kristina M., Cisneros-Heredia, Diego F., Cisse, Ibrahim K., Classen, Aimee T., Comerford, Mattheau S., Fradinger, Camila Cordoba, Corney, Hannah, Crawford, Andrew J., Crawford, Kerri M., Dahirel, Maxime, David, Santiago, De Haan, Robert, Deacon, Nicholas J., Dean, Clare, Del-Val, Ek, Deligiannis, Eleftherios K., Denney, Derek, Dettlaff, Margarete A., DiLeo, Michelle F., Ding, Yuan-Yuan, Dominguez-Lopez, Moises E., Dominoni, Davide M., Draud, Savannah L., Dyson, Karen, Ellers, Jacintha, Espinosa, Carlos, I, Essi, Liliana, Falahati-Anbaran, Mohsen, Falcao, Jessica C. F., Fargo, Hayden T., Fellowes, Mark D. E., Fitzpatrick, Raina M., Flaherty, Leah E., Flood, Padraic J., Flores, Maria F., Fornoni, Juan, Foster, Amy G., Frost, Christopher J., Fuentes, Tracy L., Fulkerson, Justin R., Gagnon, Edeline, Garbsch, Frauke, Garroway, Colin J., Gerstein, Aleeza C., Giasson, Mischa M., Girdler, E. Binney, Gkelis, Spyros, Godsoe, William, Golemiec, Anneke M., Golemiec, Mireille, Gonzalez-Lagos, Cesar, Gorton, Amanda J., Gotanda, Kiyoko M., Granath, Gustaf, Greiner, Stephan, Griffiths, Joanna S., Grilo, Filipa, Gundel, Pedro E., Hamilton, Benjamin, Hardin, Joyce M., He, Tianhua, Heard, Stephen B., Henriques, Andre F., Hernandez-Poveda, Melissa, Hetherington-Rauth, Molly C., Hill, Sarah J., Hochuli, Dieter F., Hodgins, Kathryn A., Hood, Glen R., Hopkins, Gareth R., Hovanes, Katherine A., Howard, Ava R., Hubbard, Sierra C., Ibarra-Cerdena, Carlos N., Iniguez-Armijos, Carlos, Jara-Arancio, Paola, Jarrett, Benjamin J. M., Jeannot, Manon, Jimenez-Lobato, Vania, Johnson, Mae, Johnson, Oscar, Johnson, Philip P., Johnson, Reagan, Josephson, Matthew P., Jung, Meen Chel, Just, Michael G., Kahilainen, Aapo, Kailing, Otto S., Karinho-Betancourt, Eunice, Karousou, Regina, Kirn, Lauren A., Kirschbaum, Anna, Laine, Anna-Liisa, LaMontagne, Jalene M., Lampei, Christian, Lara, Carlos, Larson, Erica L., Lazaro-Lobo, Adrian, Le, Jennifer H., Leandro, Deleon S., Lee, Christopher, Lei, Yunting, Leon, Carolina A., Tamara, Manuel E. Lequerica, Levesque, Danica C., Liao, Wan-Jin, Ljubotina, Megan, Locke, Hannah, Lockett, Martin T., Longo, Tiffany C., Lundholm, Jeremy T., MacGillavry, Thomas, Mackin, Christopher R., Mahmoud, Alex R., Manju, Isaac A., Marien, Janine, Martinez, D. Nayeli, Martinez-Bartolome, Marina, Meineke, Emily K., Mendoza-Arroyo, Wendy, Merritt, Thomas J. S., Merritt, Lila Elizabeth L., Migiani, Giuditta, Minor, Emily S., Mitchell, Nora, Bazargani, Mitra Mohammadi, Moles, Angela T., Monk, Julia D., Moore, Christopher M., Morales-Morales, Paula A., Moyers, Brook T., Munoz-Rojas, Miriam, Munshi-South, Jason, Murphy, Shannon M., Murua, Maureen M., Neila, Melisa, Nikolaidis, Ourania, Njunji, Iva, Nosko, Peter, Nunez-Farfan, Juan, Ohgushi, Takayuki, Olsen, Kenneth M., Opedal, Oystein H., Ornelas, Cristina, Parachnowitsch, Amy L., Paratore, Aaron S., Parody-Merino, Angela M., Paule, Juraj, Paulo, Octavio S., Pena, Joao Carlos, Pfeiffer, Vera W., Pinho, Pedro, Piot, Anthony, Porth, Ilga M., Poulos, Nicholas, Puentes, Adriana, Qu, Jiao, Quintero-Vallejo, Estela, Raciti, Steve M., Raeymaekers, Joost A. M., Raveala, Krista M., Rennison, Diana J., Ribeiro, Milton C., Richardson, Jonathan L., Rivas-Torres, Gonzalo, Rivera, Benjamin J., Roddy, Adam B., Rodriguez-Munoz, Erika, Roman, Jose Raul, Rossi, Laura S., Rowntree, Jennifer K., Ryan, Travis J., Salinas, Santiago, Sanders, Nathan J., Santiago-Rosario, Luis Y., Savage, Amy M., Scheepens, J. F., Schilthuizen, Menno, Schneider, Adam C., Scholier, Tiffany, Scott, Jared L., Shaheed, Summer A., Shefferson, Richard P., Shepard, Caralee A., Shykoff, Jacqui A., Silveira, Georgianna, Smith, Alexis D., Solis-Gabriel, Lizet, Soro, Antonella, Spellman, Katie, V, Whitney, Kaitlin Stack, Starke-Ottich, Indra, Stephan, Jorg G., Stephens, Jessica D., Szulc, Justyna, Szulkin, Marta, Tack, Ayco J. M., Tamburrino, Italo, Tate, Tayler D., Tergemina, Emmanuel, Theodorou, Panagiotis, Thompson, Ken A., Threlfall, Caragh G., Tinghitella, Robin M., Toledo-Chelala, Lilibeth, Tong, Xin, Uroy, Lea, Utsumi, Shunsuke, Vandegehuchte, Martijn L., VanWallendael, Acer, Vidal, Paula M., Wadgymar, Susana M., Wang, Ai-Ying, Wang, Nian, Warbrick, Montana L., Whitney, Kenneth D., Wiesmeier, Miriam, Wiles, J. Tristian, Wu, Jianqiang, Xirocostas, Zoe A., Yan, Zhaogui, Yao, Jiahe, Yoder, Jeremy B., Yoshida, Owen, Zhang, Jingxiong, Zhao, Zhigang, Ziter, Carly D., Zuellig, Matthew P., Zufall, Rebecca A., Zurita, Juan E., Zytynska, Sharon E., Johnson, Marc T. J., Santangelo, James S., Ness, Rob W., Cohan, Beata, Fitzpatrick, Connor R., Innes, Simon G., Koch, Sophie, Miles, Lindsay S., Munim, Samreen, Peres-Neto, Pedro R., Prashad, Cindy, Tong, Alex T., Aguirre, Windsor E., Akinwole, Philips O., Alberti, Marina, Alvarez, Jackie, Anderson, Jill T., Anderson, Joseph J., Ando, Yoshino, Andrew, Nigel R., Angeoletto, Fabio, Anstett, Daniel N., Anstett, Julia, Aoki-Goncalves, Felipe, Arietta, A. Z. Andis, Arroyo, Mary T. K., Austen, Emily J., Baena-Diaz, Fernanda, Barker, Cory A., Baylis, Howard A., Beliz, Julia M., Benitez-Mora, Alfonso, Bickford, David, Biedebach, Gabriela, Blackburn, Gwylim S., Boehm, Mannfred M. A., Bonser, Stephen P., Bonte, Dries, Bragger, Jesse R., Branquinho, Cristina, Brans, Kristien, I, Bresciano, Jorge C., Brom, Peta D., Bucharova, Anna, Burt, Briana, Cahill, James F., Campbell, Katelyn D., Carlen, Elizabeth J., Carmona, Diego, Castellanos, Maria Clara, Centenaro, Giada, Chalen, Izan, Chaves, Jaime A., Chavez-Pesqueira, Mariana, Chen, Xiao-Yong, Chilton, Angela M., Chomiak, Kristina M., Cisneros-Heredia, Diego F., Cisse, Ibrahim K., Classen, Aimee T., Comerford, Mattheau S., Fradinger, Camila Cordoba, Corney, Hannah, Crawford, Andrew J., Crawford, Kerri M., Dahirel, Maxime, David, Santiago, De Haan, Robert, Deacon, Nicholas J., Dean, Clare, Del-Val, Ek, Deligiannis, Eleftherios K., Denney, Derek, Dettlaff, Margarete A., DiLeo, Michelle F., Ding, Yuan-Yuan, Dominguez-Lopez, Moises E., Dominoni, Davide M., Draud, Savannah L., Dyson, Karen, Ellers, Jacintha, Espinosa, Carlos, I, Essi, Liliana, Falahati-Anbaran, Mohsen, Falcao, Jessica C. F., Fargo, Hayden T., Fellowes, Mark D. E., Fitzpatrick, Raina M., Flaherty, Leah E., Flood, Padraic J., Flores, Maria F., Fornoni, Juan, Foster, Amy G., Frost, Christopher J., Fuentes, Tracy L., Fulkerson, Justin R., Gagnon, Edeline, Garbsch, Frauke, Garroway, Colin J., Gerstein, Aleeza C., Giasson, Mischa M., Girdler, E. Binney, Gkelis, Spyros, Godsoe, William, Golemiec, Anneke M., Golemiec, Mireille, Gonzalez-Lagos, Cesar, Gorton, Amanda J., Gotanda, Kiyoko M., Granath, Gustaf, Greiner, Stephan, Griffiths, Joanna S., Grilo, Filipa, Gundel, Pedro E., Hamilton, Benjamin, Hardin, Joyce M., He, Tianhua, Heard, Stephen B., Henriques, Andre F., Hernandez-Poveda, Melissa, Hetherington-Rauth, Molly C., Hill, Sarah J., Hochuli, Dieter F., Hodgins, Kathryn A., Hood, Glen R., Hopkins, Gareth R., Hovanes, Katherine A., Howard, Ava R., Hubbard, Sierra C., Ibarra-Cerdena, Carlos N., Iniguez-Armijos, Carlos, Jara-Arancio, Paola, Jarrett, Benjamin J. M., Jeannot, Manon, Jimenez-Lobato, Vania, Johnson, Mae, Johnson, Oscar, Johnson, Philip P., Johnson, Reagan, Josephson, Matthew P., Jung, Meen Chel, Just, Michael G., Kahilainen, Aapo, Kailing, Otto S., Karinho-Betancourt, Eunice, Karousou, Regina, Kirn, Lauren A., Kirschbaum, Anna, Laine, Anna-Liisa, LaMontagne, Jalene M., Lampei, Christian, Lara, Carlos, Larson, Erica L., Lazaro-Lobo, Adrian, Le, Jennifer H., Leandro, Deleon S., Lee, Christopher, Lei, Yunting, Leon, Carolina A., Tamara, Manuel E. Lequerica, Levesque, Danica C., Liao, Wan-Jin, Ljubotina, Megan, Locke, Hannah, Lockett, Martin T., Longo, Tiffany C., Lundholm, Jeremy T., MacGillavry, Thomas, Mackin, Christopher R., Mahmoud, Alex R., Manju, Isaac A., Marien, Janine, Martinez, D. Nayeli, Martinez-Bartolome, Marina, Meineke, Emily K., Mendoza-Arroyo, Wendy, Merritt, Thomas J. S., Merritt, Lila Elizabeth L., Migiani, Giuditta, Minor, Emily S., Mitchell, Nora, Bazargani, Mitra Mohammadi, Moles, Angela T., Monk, Julia D., Moore, Christopher M., Morales-Morales, Paula A., Moyers, Brook T., Munoz-Rojas, Miriam, Munshi-South, Jason, Murphy, Shannon M., Murua, Maureen M., Neila, Melisa, Nikolaidis, Ourania, Njunji, Iva, Nosko, Peter, Nunez-Farfan, Juan, Ohgushi, Takayuki, Olsen, Kenneth M., Opedal, Oystein H., Ornelas, Cristina, Parachnowitsch, Amy L., Paratore, Aaron S., Parody-Merino, Angela M., Paule, Juraj, Paulo, Octavio S., Pena, Joao Carlos, Pfeiffer, Vera W., Pinho, Pedro, Piot, Anthony, Porth, Ilga M., Poulos, Nicholas, Puentes, Adriana, Qu, Jiao, Quintero-Vallejo, Estela, Raciti, Steve M., Raeymaekers, Joost A. M., Raveala, Krista M., Rennison, Diana J., Ribeiro, Milton C., Richardson, Jonathan L., Rivas-Torres, Gonzalo, Rivera, Benjamin J., Roddy, Adam B., Rodriguez-Munoz, Erika, Roman, Jose Raul, Rossi, Laura S., Rowntree, Jennifer K., Ryan, Travis J., Salinas, Santiago, Sanders, Nathan J., Santiago-Rosario, Luis Y., Savage, Amy M., Scheepens, J. F., Schilthuizen, Menno, Schneider, Adam C., Scholier, Tiffany, Scott, Jared L., Shaheed, Summer A., Shefferson, Richard P., Shepard, Caralee A., Shykoff, Jacqui A., Silveira, Georgianna, Smith, Alexis D., Solis-Gabriel, Lizet, Soro, Antonella, Spellman, Katie, V, Whitney, Kaitlin Stack, Starke-Ottich, Indra, Stephan, Jorg G., Stephens, Jessica D., Szulc, Justyna, Szulkin, Marta, Tack, Ayco J. M., Tamburrino, Italo, Tate, Tayler D., Tergemina, Emmanuel, Theodorou, Panagiotis, Thompson, Ken A., Threlfall, Caragh G., Tinghitella, Robin M., Toledo-Chelala, Lilibeth, Tong, Xin, Uroy, Lea, Utsumi, Shunsuke, Vandegehuchte, Martijn L., VanWallendael, Acer, Vidal, Paula M., Wadgymar, Susana M., Wang, Ai-Ying, Wang, Nian, Warbrick, Montana L., Whitney, Kenneth D., Wiesmeier, Miriam, Wiles, J. Tristian, Wu, Jianqiang, Xirocostas, Zoe A., Yan, Zhaogui, Yao, Jiahe, Yoder, Jeremy B., Yoshida, Owen, Zhang, Jingxiong, Zhao, Zhigang, Ziter, Carly D., Zuellig, Matthew P., Zufall, Rebecca A., Zurita, Juan E., Zytynska, Sharon E., and Johnson, Marc T. J.

Abstract

Urbanization transforms environments in ways that alter biological evolution. We examined whether urban environmental change drives parallel evolution by sampling 110,019 white clover plants from 6169 populations in 160 cities globally. Plants were assayed for a Mendelian antiherbivore defense that also affects tolerance to abiotic stressors. Urban-rural gradients were associated with the evolution of clines in defense in 47% of cities throughout the world. Variation in the strength of clines was explained by environmental changes in drought stress and vegetation cover that varied among cities. Sequencing 2074 genomes from 26 cities revealed that the evolution of urban-rural dines was best explained by adaptive evolution, but the degree of parallel adaptation varied among cities. Our results demonstrate that urbanization leads to adaptation at a global scale.

Published
2022
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566. The Tabula Sapiens: A multiple-organ, single-cell transcriptomic atlas of humans.

Author

Tabula Sapiens Consortium*, Tabula Sapiens Consortium*, Jones, Robert C, Karkanias, Jim, Krasnow, Mark A, Pisco, Angela Oliveira, Quake, Stephen R, Salzman, Julia, Yosef, Nir, Bulthaup, Bryan, Brown, Phillip, Harper, William, Hemenez, Marisa, Ponnusamy, Ravikumar, Salehi, Ahmad, Sanagavarapu, Bhavani A, Spallino, Eileen, Aaron, Ksenia A, Concepcion, Waldo, Gardner, James M, Kelly, Burnett, Neidlinger, Nikole, Wang, Zifa, Crasta, Sheela, Kolluru, Saroja, Morri, Maurizio, Tan, Serena Y, Travaglini, Kyle J, Xu, Chenling, Alcántara-Hernández, Marcela, Almanzar, Nicole, Antony, Jane, Beyersdorf, Benjamin, Burhan, Deviana, Calcuttawala, Kruti, Carter, Matthew M, Chan, Charles KF, Chang, Charles A, Chang, Stephen, Colville, Alex, Culver, Rebecca N, Cvijović, Ivana, D'Amato, Gaetano, Ezran, Camille, Galdos, Francisco X, Gillich, Astrid, Goodyer, William R, Hang, Yan, Hayashi, Alyssa, Houshdaran, Sahar, Huang, Xianxi, Irwin, Juan C, Jang, SoRi, Juanico, Julia Vallve, Kershner, Aaron M, Kim, Soochi, Kiss, Bernhard, Kong, William, Kumar, Maya E, Kuo, Angera H, Leylek, Rebecca, Li, Baoxiang, Loeb, Gabriel B, Lu, Wan-Jin, Mantri, Sruthi, Markovic, Maxim, McAlpine, Patrick L, de Morree, Antoine, Mrouj, Karim, Mukherjee, Shravani, Muser, Tyler, Neuhöfer, Patrick, Nguyen, Thi D, Perez, Kimberly, Phansalkar, Ragini, Puluca, Nazan, Qi, Zhen, Rao, Poorvi, Raquer-McKay, Hayley, Schaum, Nicholas, Scott, Bronwyn, Seddighzadeh, Bobak, Segal, Joe, Sen, Sushmita, Sikandar, Shaheen, Spencer, Sean P, Steffes, Lea C, Subramaniam, Varun R, Swarup, Aditi, Swift, Michael, Van Treuren, Will, Trimm, Emily, Veizades, Stefan, Vijayakumar, Sivakamasundari, Vo, Kim Chi, Tabula Sapiens Consortium*, Tabula Sapiens Consortium*, Jones, Robert C, Karkanias, Jim, Krasnow, Mark A, Pisco, Angela Oliveira, Quake, Stephen R, Salzman, Julia, Yosef, Nir, Bulthaup, Bryan, Brown, Phillip, Harper, William, Hemenez, Marisa, Ponnusamy, Ravikumar, Salehi, Ahmad, Sanagavarapu, Bhavani A, Spallino, Eileen, Aaron, Ksenia A, Concepcion, Waldo, Gardner, James M, Kelly, Burnett, Neidlinger, Nikole, Wang, Zifa, Crasta, Sheela, Kolluru, Saroja, Morri, Maurizio, Tan, Serena Y, Travaglini, Kyle J, Xu, Chenling, Alcántara-Hernández, Marcela, Almanzar, Nicole, Antony, Jane, Beyersdorf, Benjamin, Burhan, Deviana, Calcuttawala, Kruti, Carter, Matthew M, Chan, Charles KF, Chang, Charles A, Chang, Stephen, Colville, Alex, Culver, Rebecca N, Cvijović, Ivana, D'Amato, Gaetano, Ezran, Camille, Galdos, Francisco X, Gillich, Astrid, Goodyer, William R, Hang, Yan, Hayashi, Alyssa, Houshdaran, Sahar, Huang, Xianxi, Irwin, Juan C, Jang, SoRi, Juanico, Julia Vallve, Kershner, Aaron M, Kim, Soochi, Kiss, Bernhard, Kong, William, Kumar, Maya E, Kuo, Angera H, Leylek, Rebecca, Li, Baoxiang, Loeb, Gabriel B, Lu, Wan-Jin, Mantri, Sruthi, Markovic, Maxim, McAlpine, Patrick L, de Morree, Antoine, Mrouj, Karim, Mukherjee, Shravani, Muser, Tyler, Neuhöfer, Patrick, Nguyen, Thi D, Perez, Kimberly, Phansalkar, Ragini, Puluca, Nazan, Qi, Zhen, Rao, Poorvi, Raquer-McKay, Hayley, Schaum, Nicholas, Scott, Bronwyn, Seddighzadeh, Bobak, Segal, Joe, Sen, Sushmita, Sikandar, Shaheen, Spencer, Sean P, Steffes, Lea C, Subramaniam, Varun R, Swarup, Aditi, Swift, Michael, Van Treuren, Will, Trimm, Emily, Veizades, Stefan, Vijayakumar, Sivakamasundari, and Vo, Kim Chi

Abstract

Molecular characterization of cell types using single-cell transcriptome sequencing is revolutionizing cell biology and enabling new insights into the physiology of human organs. We created a human reference atlas comprising nearly 500,000 cells from 24 different tissues and organs, many from the same donor. This atlas enabled molecular characterization of more than 400 cell types, their distribution across tissues, and tissue-specific variation in gene expression. Using multiple tissues from a single donor enabled identification of the clonal distribution of T cells between tissues, identification of the tissue-specific mutation rate in B cells, and analysis of the cell cycle state and proliferative potential of shared cell types across tissues. Cell type-specific RNA splicing was discovered and analyzed across tissues within an individual.

Published
2022

567. CRFormer: A Cross-Region Transformer for Shadow Removal

Author

Wan, Jin, Yin, Hui, Wu, Zhenyao, Wu, Xinyi, Liu, Zhihao, Wang, Song, Wan, Jin, Yin, Hui, Wu, Zhenyao, Wu, Xinyi, Liu, Zhihao, and Wang, Song

Abstract

Aiming to restore the original intensity of shadow regions in an image and make them compatible with the remaining non-shadow regions without a trace, shadow removal is a very challenging problem that benefits many downstream image/video-related tasks. Recently, transformers have shown their strong capability in various applications by capturing global pixel interactions and this capability is highly desirable in shadow removal. However, applying transformers to promote shadow removal is non-trivial for the following two reasons: 1) The patchify operation is not suitable for shadow removal due to irregular shadow shapes; 2) shadow removal only needs one-way interaction from the non-shadow region to the shadow region instead of the common two-way interactions among all pixels in the image. In this paper, we propose a novel cross-region transformer, namely CRFormer, for shadow removal which differs from existing transformers by only considering the pixel interactions from the non-shadow region to the shadow region without splitting images into patches. This is achieved by a carefully designed region-aware cross-attention operation that can aggregate the recovered shadow region features conditioned on the non-shadow region features. Extensive experiments on ISTD, AISTD, SRD, and Video Shadow Removal datasets demonstrate the superiority of our method compared to other state-of-the-art methods.

Published
2022

568. A Weighted Turbo Equalized Multi-Band Underwater Wireless Acoustic Communications

Author

Hui-Su Lee, Chang-Uk Baek, Ji-Won Jung, and Wan-Jin Kim

Subjects
underwater wireless acoustic communications, multi-band, turbo pi code, threshold, Technology, Engineering (General). Civil engineering (General), TA1-2040, Biology (General), QH301-705.5, Physics, QC1-999, Chemistry, QD1-999
Abstract

The multi-band UWAS (Underwater Wireless Acoustic Sensor) communication techniques are effective in terms of performance and throughput efficiency because they can overcome selective frequency fading by allocating the same data to different frequency bands, in an environment of rapidly changing channel transfer characteristic. However, the multi-band configuration may have a performance worse than the single-band one because performance degradation in one particular band affects the output from all the other bands. This problem can be solved by using a receiving end that analyzes the error rates of each band, sets threshold values and allocates the lower weights to the inferior bands. There are many methods of setting threshold values. In this paper, we proposed an algorithm to set the threshold value by using the preamble error rates, which are known data that have to be transmitted and received. In addition, we have analyzed the efficiency of multi-band transmission scheme in the UWAS communication by applying 1~4 number of multi-bands, using turbo pi codes, with a coding rate of 1/3. We evaluated the performance of the proposed multi-bands transmission model in real underwater environments. Experimental results showed that the performance increased as the number of multiple bands increased. Furthermore, the performance of multi-band was improved when the proposed threshold algorithm was applied.

Published
2018
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581. Surrounding rock deformation analysis of underground caverns with multi-body finite element method

Author

Wan Jin Liang, Chao Su, Fei Wang, and Xiao-jun Tang

Subjects
multi-body finite element method, discontinuous deformation, surrounding rock deformation, elastic contact, coordination displacement, River, lake, and water-supply engineering (General), TC401-506
Abstract

Discontinuous deformation problems are common in rock engineering. Numerical analysis methods based on system models of the discrete body can better solve these problems. One of the most effective solutions is discontinuous deformation analysis (DDA) method, but the DDA method brings about rock embedding problems when it uses the strain assumption in elastic deformation and adopts virtual springs to simulate the contact problems. The multi-body finite element method (FEM) proposed in this paper can solve the problems of contact and deformation of blocks very well because it integrates the FEM and multi-body system dynamics theory. It is therefore a complete method for solving discontinuous deformation problems through balance equations of the contact surface and for simulating the displacement of whole blocks. In this study, this method was successfully used for deformation analysis of underground caverns in stratified rock. The simulation results indicate that the multi-body FEM can show contact forces and the stress states on contact surfaces better than DDA, and that the results calculated with the multi-body FEM are more consistent with engineering practice than those calculated with DDA method.

Published
2009
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584. An innovative and convenient technique to reduce anastomotic leakage after double stapling anastomosis: laparoscopic demucositized suture the overlapping point of the “dog ear” area

Author

Yi, Xiaojiang, primary, Liao, Weilin, additional, Feng, Xiaochuang, additional, Li, Hongming, additional, Chen, Zhaoyu, additional, Wang, Jiahao, additional, Lu, Xinquan, additional, Wan, Jin, additional, Lin, Jiaxin, additional, Hong, Xiaoyan, additional, and Diao, Dechang, additional

Published
2022
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585. Expanding the phenotype and genotype spectra of PLIN4-associated myopathy with rimmed ubiquitin-positive autophagic vacuolation

Author

Yang, Kang, primary, Zeng, Yi-Heng, additional, Qiu, Yu-Sen, additional, Lin, Feng, additional, Chen, Hai-Zhu, additional, Jin, Ming, additional, Chen, Long, additional, Zheng, Fu-Ze, additional, Ding, Yuan-Liang, additional, Cao, Chun-Yan, additional, Lin, Min-Ting, additional, Chen, Wan-Jin, additional, Wang, Zhi-Qiang, additional, and Wang, Ning, additional

Published
2022
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595. Global urban environmental change drives adaptation in white clover

Author

Santangelo, James S., primary, Ness, Rob W., additional, Cohan, Beata, additional, Fitzpatrick, Connor R., additional, Innes, Simon G., additional, Koch, Sophie, additional, Miles, Lindsay S., additional, Munim, Samreen, additional, Peres-Neto, Pedro R., additional, Prashad, Cindy, additional, Tong, Alex T., additional, Aguirre, Windsor E., additional, Akinwole, Philips O., additional, Alberti, Marina, additional, Álvarez, Jackie, additional, Anderson, Jill T., additional, Anderson, Joseph J., additional, Ando, Yoshino, additional, Andrew, Nigel R., additional, Angeoletto, Fabio, additional, Anstett, Daniel N., additional, Anstett, Julia, additional, Aoki-Gonçalves, Felipe, additional, Arietta, A. Z. Andis, additional, Arroyo, Mary T. K., additional, Austen, Emily J., additional, Baena-Díaz, Fernanda, additional, Barker, Cory A., additional, Baylis, Howard A., additional, Beliz, Julia M., additional, Benitez-Mora, Alfonso, additional, Bickford, David, additional, Biedebach, Gabriela, additional, Blackburn, Gwylim S., additional, Boehm, Mannfred M. A., additional, Bonser, Stephen P., additional, Bonte, Dries, additional, Bragger, Jesse R., additional, Branquinho, Cristina, additional, Brans, Kristien I., additional, Bresciano, Jorge C., additional, Brom, Peta D., additional, Bucharova, Anna, additional, Burt, Briana, additional, Cahill, James F., additional, Campbell, Katelyn D., additional, Carlen, Elizabeth J., additional, Carmona, Diego, additional, Castellanos, Maria Clara, additional, Centenaro, Giada, additional, Chalen, Izan, additional, Chaves, Jaime A., additional, Chávez-Pesqueira, Mariana, additional, Chen, Xiao-Yong, additional, Chilton, Angela M., additional, Chomiak, Kristina M., additional, Cisneros-Heredia, Diego F., additional, Cisse, Ibrahim K., additional, Classen, Aimée T., additional, Comerford, Mattheau S., additional, Fradinger, Camila Cordoba, additional, Corney, Hannah, additional, Crawford, Andrew J., additional, Crawford, Kerri M., additional, Dahirel, Maxime, additional, David, Santiago, additional, De Haan, Robert, additional, Deacon, Nicholas J., additional, Dean, Clare, additional, del-Val, Ek, additional, Deligiannis, Eleftherios K., additional, Denney, Derek, additional, Dettlaff, Margarete A., additional, DiLeo, Michelle F., additional, Ding, Yuan-Yuan, additional, Domínguez-López, Moisés E., additional, Dominoni, Davide M., additional, Draud, Savannah L., additional, Dyson, Karen, additional, Ellers, Jacintha, additional, Espinosa, Carlos I., additional, Essi, Liliana, additional, Falahati-Anbaran, Mohsen, additional, Falcão, Jéssica C. F., additional, Fargo, Hayden T., additional, Fellowes, Mark D. E., additional, Fitzpatrick, Raina M., additional, Flaherty, Leah E., additional, Flood, Pádraic J., additional, Flores, María F., additional, Fornoni, Juan, additional, Foster, Amy G., additional, Frost, Christopher J., additional, Fuentes, Tracy L., additional, Fulkerson, Justin R., additional, Gagnon, Edeline, additional, Garbsch, Frauke, additional, Garroway, Colin J., additional, Gerstein, Aleeza C., additional, Giasson, Mischa M., additional, Girdler, E. Binney, additional, Gkelis, Spyros, additional, Godsoe, William, additional, Golemiec, Anneke M., additional, Golemiec, Mireille, additional, González-Lagos, César, additional, Gorton, Amanda J., additional, Gotanda, Kiyoko M., additional, Granath, Gustaf, additional, Greiner, Stephan, additional, Griffiths, Joanna S., additional, Grilo, Filipa, additional, Gundel, Pedro E., additional, Hamilton, Benjamin, additional, Hardin, Joyce M., additional, He, Tianhua, additional, Heard, Stephen B., additional, Henriques, André F., additional, Hernández-Poveda, Melissa, additional, Hetherington-Rauth, Molly C., additional, Hill, Sarah J., additional, Hochuli, Dieter F., additional, Hodgins, Kathryn A., additional, Hood, Glen R., additional, Hopkins, Gareth R., additional, Hovanes, Katherine A., additional, Howard, Ava R., additional, Hubbard, Sierra C., additional, Ibarra-Cerdeña, Carlos N., additional, Iñiguez-Armijos, Carlos, additional, Jara-Arancio, Paola, additional, Jarrett, Benjamin J. M., additional, Jeannot, Manon, additional, Jiménez-Lobato, Vania, additional, Johnson, Mae, additional, Johnson, Oscar, additional, Johnson, Philip P., additional, Johnson, Reagan, additional, Josephson, Matthew P., additional, Jung, Meen Chel, additional, Just, Michael G., additional, Kahilainen, Aapo, additional, Kailing, Otto S., additional, Kariñho-Betancourt, Eunice, additional, Karousou, Regina, additional, Kirn, Lauren A., additional, Kirschbaum, Anna, additional, Laine, Anna-Liisa, additional, LaMontagne, Jalene M., additional, Lampei, Christian, additional, Lara, Carlos, additional, Larson, Erica L., additional, Lázaro-Lobo, Adrián, additional, Le, Jennifer H., additional, Leandro, Deleon S., additional, Lee, Christopher, additional, Lei, Yunting, additional, León, Carolina A., additional, Lequerica Tamara, Manuel E., additional, Levesque, Danica C., additional, Liao, Wan-Jin, additional, Ljubotina, Megan, additional, Locke, Hannah, additional, Lockett, Martin T., additional, Longo, Tiffany C., additional, Lundholm, Jeremy T., additional, MacGillavry, Thomas, additional, Mackin, Christopher R., additional, Mahmoud, Alex R., additional, Manju, Isaac A., additional, Mariën, Janine, additional, Martínez, D. Nayeli, additional, Martínez-Bartolomé, Marina, additional, Meineke, Emily K., additional, Mendoza-Arroyo, Wendy, additional, Merritt, Thomas J. S., additional, Merritt, Lila Elizabeth L., additional, Migiani, Giuditta, additional, Minor, Emily S., additional, Mitchell, Nora, additional, Mohammadi Bazargani, Mitra, additional, Moles, Angela T., additional, Monk, Julia D., additional, Moore, Christopher M., additional, Morales-Morales, Paula A., additional, Moyers, Brook T., additional, Muñoz-Rojas, Miriam, additional, Munshi-South, Jason, additional, Murphy, Shannon M., additional, Murúa, Maureen M., additional, Neila, Melisa, additional, Nikolaidis, Ourania, additional, Njunjić, Iva, additional, Nosko, Peter, additional, Núñez-Farfán, Juan, additional, Ohgushi, Takayuki, additional, Olsen, Kenneth M., additional, Opedal, Øystein H., additional, Ornelas, Cristina, additional, Parachnowitsch, Amy L., additional, Paratore, Aaron S., additional, Parody-Merino, Angela M., additional, Paule, Juraj, additional, Paulo, Octávio S., additional, Pena, João Carlos, additional, Pfeiffer, Vera W., additional, Pinho, Pedro, additional, Piot, Anthony, additional, Porth, Ilga M., additional, Poulos, Nicholas, additional, Puentes, Adriana, additional, Qu, Jiao, additional, Quintero-Vallejo, Estela, additional, Raciti, Steve M., additional, Raeymaekers, Joost A. M., additional, Raveala, Krista M., additional, Rennison, Diana J., additional, Ribeiro, Milton C., additional, Richardson, Jonathan L., additional, Rivas-Torres, Gonzalo, additional, Rivera, Benjamin J., additional, Roddy, Adam B., additional, Rodriguez-Muñoz, Erika, additional, Román, José Raúl, additional, Rossi, Laura S., additional, Rowntree, Jennifer K., additional, Ryan, Travis J., additional, Salinas, Santiago, additional, Sanders, Nathan J., additional, Santiago-Rosario, Luis Y., additional, Savage, Amy M., additional, Scheepens, J.F., additional, Schilthuizen, Menno, additional, Schneider, Adam C., additional, Scholier, Tiffany, additional, Scott, Jared L., additional, Shaheed, Summer A., additional, Shefferson, Richard P., additional, Shepard, Caralee A., additional, Shykoff, Jacqui A., additional, Silveira, Georgianna, additional, Smith, Alexis D., additional, Solis-Gabriel, Lizet, additional, Soro, Antonella, additional, Spellman, Katie V., additional, Whitney, Kaitlin Stack, additional, Starke-Ottich, Indra, additional, Stephan, Jörg G., additional, Stephens, Jessica D., additional, Szulc, Justyna, additional, Szulkin, Marta, additional, Tack, Ayco J. M., additional, Tamburrino, Ítalo, additional, Tate, Tayler D., additional, Tergemina, Emmanuel, additional, Theodorou, Panagiotis, additional, Thompson, Ken A., additional, Threlfall, Caragh G., additional, Tinghitella, Robin M., additional, Toledo-Chelala, Lilibeth, additional, Tong, Xin, additional, Uroy, Léa, additional, Utsumi, Shunsuke, additional, Vandegehuchte, Martijn L., additional, VanWallendael, Acer, additional, Vidal, Paula M., additional, Wadgymar, Susana M., additional, Wang, Ai-Ying, additional, Wang, Nian, additional, Warbrick, Montana L., additional, Whitney, Kenneth D., additional, Wiesmeier, Miriam, additional, Wiles, J. Tristian, additional, Wu, Jianqiang, additional, Xirocostas, Zoe A., additional, Yan, Zhaogui, additional, Yao, Jiahe, additional, Yoder, Jeremy B., additional, Yoshida, Owen, additional, Zhang, Jingxiong, additional, Zhao, Zhigang, additional, Ziter, Carly D., additional, Zuellig, Matthew P., additional, Zufall, Rebecca A., additional, Zurita, Juan E., additional, Zytynska, Sharon E., additional, and Johnson, Marc T. J., additional

Published
2022
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600. Loss of function of CMPK2 causes mitochondria deficiency and brain calcification

Author

Miao Zhao, Hui-Zhen Su, Yi-Heng Zeng, Yuan Sun, Xin-Xin Guo, Yun-Lu Li, Chong Wang, Zhi-Yuan Zhao, Xue-Jing Huang, Kai-Jun Lin, Zi-Ling Ye, Bi-Wei Lin, Shunyan Hong, Jitan Zheng, Yao-Bin Liu, Xiang-Ping Yao, Dehao Yang, Ying-Qian Lu, Hai-Zhu Chen, Erwei Zuo, Guang Yang, Hong-Tao Wang, Chen-Wei Huang, Xiao-Hong Lin, Zhidong Cen, Lu-Lu Lai, Yan-Ke Zhang, Xi Li, Tianmin Lai, Jingjing Lin, Dan-Dan Zuo, Min-Ting Lin, Chia-Wei Liou, Qing-Xia Kong, Chuan-Zhu Yan, Zhi-Qi Xiong, Ning Wang, Wei Luo, Cui-Ping Zhao, Xuewen Cheng, and Wan-Jin Chen

Subjects
Genetics, Cell Biology, Molecular Biology, Biochemistry
Abstract

Brain calcification is a critical aging-associated pathology and can cause multifaceted neurological symptoms. Cerebral phosphate homeostasis dysregulation, blood-brain barrier defects, and immune dysregulation have been implicated as major pathological processes in familial brain calcification (FBC). Here, we analyzed two brain calcification families and identified calcification co-segregated biallelic variants in the CMPK2 gene that disrupt mitochondrial functions. Transcriptome analysis of peripheral blood mononuclear cells (PBMCs) isolated from these patients showed impaired mitochondria-associated metabolism pathways. In situ hybridization and single-cell RNA sequencing revealed robust Cmpk2 expression in neurons and vascular endothelial cells (vECs), two cell types with high energy expenditure in the brain. The neurons in Cmpk2-knockout (KO) mice have fewer mitochondrial DNA copies, down-regulated mitochondrial proteins, reduced ATP production, and elevated intracellular inorganic phosphate (Pi) level, recapitulating the mitochondrial dysfunction observed in the PBMCs isolated from the FBC patients. Morphologically, the cristae architecture of the Cmpk2-KO murine neurons was also impaired. Notably, calcification developed in a progressive manner in the homozygous Cmpk2-KO mice thalamus region as well as in the Cmpk2-knock-in mice bearing the patient mutation, thus phenocopying the calcification pathology observed in the patients. Together, our study identifies biallelic variants of CMPK2 as novel genetic factors for FBC; and demonstrates how CMPK2 deficiency alters mitochondrial structures and functions, thereby highlighting the mitochondria dysregulation as a critical pathogenic mechanism underlying brain calcification.

Published
2022

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