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1. Genetic regulation of OAS1 nonsense-mediated decay underlies association with COVID-19 hospitalization in patients of European and African ancestries

Author

Banday, A. Rouf, Stanifer, Megan L., Florez-Vargas, Oscar, Onabajo, Olusegun O., Papenberg, Brenen W., Zahoor, Muhammad A., Mirabello, Lisa, Ring, Timothy J., Lee, Chia-Han, Albert, Paul S., Andreakos, Evangelos, Arons, Evgeny, Barsh, Greg, Biesecker, Leslie G., Boyle, David L., Brahier, Mark S., Burnett-Hartman, Andrea, Carrington, Mary, Chang, Euijin, Choe, Pyoeng Gyun, Chisholm, Rex L., Colli, Leandro M., Dalgard, Clifton L., Dude, Carolynn M., Edberg, Jeff, Erdmann, Nathan, Feigelson, Heather S., Fonseca, Benedito A., Firestein, Gary S., Gehring, Adam J., Guo, Cuncai, Ho, Michelle, Holland, Steven, Hutchinson, Amy A., Im, Hogune, Irby, Les’Shon, Ison, Michael G., Joseph, Naima T., Kim, Hong Bin, Kreitman, Robert J., Korf, Bruce R., Lipkin, Steven M., Mahgoub, Siham M., Mohammed, Iman, Paschoalini, Guilherme L., Pacheco, Jennifer A., Peluso, Michael J., Rader, Daniel J., Redden, David T., Ritchie, Marylyn D., Rosenblum, Brooke, Ross, M. Elizabeth, Anna, Hanaisa P. Sant, Savage, Sharon A., Sharma, Sudha, Siouti, Eleni, Smith, Alicia K., Triantafyllia, Vasiliki, Vargas, Joselin M., Vargas, Jose D., Verma, Anurag, Vij, Vibha, Wesemann, Duane R., Yeager, Meredith, Yu, Xu, Zhang, Yu, Boulant, Steeve, Chanock, Stephen J., Feld, Jordan J., and Prokunina-Olsson, Ludmila

Published
2022
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2. Melanoma to Vitiligo: The Melanocyte in Biology & Medicine–Joint Montagna Symposium on the Biology of Skin/PanAmerican Society for Pigment Cell Research Annual Meeting

Author

Leachman, Sancy A., Hornyak, Thomas J., Barsh, Greg, Bastian, Boris C., Brash, Douglas E., Cleaver, James E., Cooper, Cynthia D., D’Orazio, John A., Fujita, Mayumi, Holmen, Sheri L., Indra, Arup K., Kraemer, Kenneth H., Le Poole, I. Caroline, Lo, Roger S., Lund, Amanda W., Manga, Prashiela, Pavan, William J., Setaluri, Vijayasaradhi, Stemwedel, Clara E., and Kulesz-Martin, Molly F.

Published
2020
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4. Functional Annotation of Mouse Genome Sequences

Author

Nadeau, Joseph H., Balling, Rudi, Barsh, Greg, Beier, David, Brown, S. D. M., Bucan, Maja, Camper, Sally, Carlson, George, Copeland, Neal, Eppig, Janan, Fletcher, Colin, Frankel, Wayne N., Ganten, Detlev, Goldowitz, Dan, Goodnow, Chris, Guenet, Jean-Louis, Hicks, Geoff, de Angelis, Martin Hrabe, Jackson, Ian, Jacob, Howard J., Jenkins, Nancy, Johnson, Dabney, Justice, Monica, Kay, Steve, Kingsley, David, Lehrach, Hans, Magnuson, Terry, Meisler, Miriam, Poustka, AnneMarie, Rinchik, Eugene M., Rossant, Janet, Russell, Lee B., Schimenti, John, Shiroishi, Toshihiko, Skarnes, William C., Soriano, Phil, Stanford, William, Takahashi, Joseph S., Wurst, Wolfgang, and Zimmer, Andreas

Published
2001

6. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Author

Amaral, Michelle, Amendola, Laura, Appelbaum, Paul S., Aronson, Samuel J., Arora, Shubhangi, Azzariti, Danielle R., Barsh, Greg S., Bebin, E.M., Biesecker, Barbara B., Biesecker, Leslie G., Biswas, Sawona, Blout, Carrie L., Bowling, Kevin M., Brothers, Kyle B., Brown, Brian L., Burt, Amber A., Byers, Peter H., Caga-anan, Charlisse F., Calikoglu, Muge G., Carlson, Sara J., Chahin, Nizar, Chinnaiyan, Arul M., Christensen, Kurt D., Chung, Wendy, Cirino, Allison L., Clayton, Ellen, Conlin, Laura K., Cooper, Greg M., Crosslin, David R., Davis, James V., Davis, Kelly, Deardorff, Matthew A., Devkota, Batsal, De Vries, Raymond, Diamond, Pamela, Dorschner, Michael O., Dugan, Noreen P., Dukhovny, Dmitry, Dulik, Matthew C., East, Kelly M., Rivera-Munoz, Edgar A., Evans, Barbara, Evans, James P., Everett, Jessica, Exe, Nicole, Fan, Zheng, Feuerman, Lindsay Z., Filipski, Kelly, Finnila, Candice R., Fishler, Kristen, Fullerton, Stephanie M., Ghrundmeier, Bob, Giles, Karen, Gilmore, Marian J., Girnary, Zahra S., Goddard, Katrina, Gonsalves, Steven, Gordon, Adam S., Gornick, Michele C., Grady, William M., Gray, David E., Gray, Stacy W., Green, Robert, Greenwood, Robert S., Gutierrez, Amanda M., Han, Paul, Hart, Ragan, Heagerty, Patrick, Henderson, Gail E., Hensman, Naomi, Hiatt, Susan M., Himes, Patricia, Hindorff, Lucia A., Hisama, Fuki M., Ho, Carolyn Y., Hoffman-Andrews, Lily B., Holm, Ingrid A., Hong, Celine, Horike-Pyne, Martha J., Hull, Sara, Hutter, Carolyn M., Jamal, Seema, Jarvik, Gail P., Jensen, Brian C., Joffe, Steve, Johnston, Jennifer, Karavite, Dean, Kauffman, Tia L., Kaufman, Dave, Kelley, Whitley, Kim, Jerry H., Kirby, Christine, Klein, William, Knoppers, Bartha, Koenig, Barbara A., Kong, Sek Won, Krantz, Ian, Krier, Joel B., Lamb, Neil E., Lambert, Michele P., Le, Lan Q., Lebo, Matthew S., Lee, Alexander, Lee, Kaitlyn B., Lennon, Niall, Leo, Michael C., Leppig, Kathleen A., Lewis, Katie, Lewis, Michelle, Lindeman, Neal I., Lockhart, Nicole, Lonigro, Bob, Lose, Edward J., Lupo, Philip J., Rodriguez, Laura Lyman, Lynch, Frances, Machini, Kalotina, MacRae, Calum, Manolio, Teri A., Marchuk, Daniel S., Martinez, Josue N., Masino, Aaron, McCullough, Laurence, McEwen, Jean, McGuire, Amy, McLaughlin, Heather M., McMullen, Carmit, Mieczkowski, Piotr A., Miller, Jeff, Miller, Victoria A., Mody, Rajen, Mooney, Sean D., Moore, Elizabeth G., Morris, Elissa, Murray, Michael, Muzny, Donna, Myers, Richard M., Ng, David, Nickerson, Deborah A., Oliver, Nelly M., Ou, Jeffrey, Parsons, Will, Patrick, Donald L., Pennington, Jeffrey, Perry, Denise L., Petersen, Gloria, Plon, Sharon, Porter, Katie, Powell, Bradford C., Punj, Sumit, Breitkopf, Carmen Radecki, Raesz-Martinez, Robin A., Raskind, Wendy H., Rehm, Heidi L., Reigar, Dean A., Reiss, Jacob A., Rich, Carla A., Richards, Carolyn Sue, Rini, Christine, Roberts, Scott, Robertson, Peggy D., Robinson, Dan, Robinson, Jill O., Robinson, Marguerite E., Roche, Myra I., Romasko, Edward J., Rosenthal, Elisabeth A., Salama, Joseph, Scarano, Maria I., Schneider, Jennifer, Scollon, Sarah, Seidman, Christine E., Seifert, Bryce A., Sharp, Richard R., Shirts, Brian H., Sholl, Lynette M., Siddiqui, Javed, Silverman, Elian, Simmons, Shirley, Simons, Janae V., Skinner, Debra, Spinner, Nancy B., Stoffel, Elena, Strande, Natasha T., Sunyaev, Shamil, Sybert, Virginia P., Taber, Jennifer, Tabor, Holly K., Tarczy-Hornoch, Peter, Taylor, Deanne M., Tilley, Christian R., Tomlinson, Ashley, Trinidad, Susan, Tsai, Ellen, Ubel, Peter, Van Allen, Eliezer M., Vassy, Jason L., Vats, Pankaj, Veenstra, David L., Vetter, Victoria L., Vries, Raymond D., Wagle, Nikhil, Walser, Sarah A., Walsh, Rebecca C., Weck, Karen, Werner-Lin, Allison, Whittle, Jana, Wilfond, Ben, Wilhelmsen, Kirk C., Wolf, Susan M., Wynn, Julia, Yang, Yaping, Young, Carol, Yu, Joon-Ho, Zikmund-Fisher, Brian J., Green, Robert C., Goddard, Katrina A.B., Amendola, Laura M., Berg, Jonathan S., Bernhardt, Barbara A., Burke, Wylie, Chung, Wendy K., Clayton, Ellen W., Cooper, Gregory M., East, Kelly, Garraway, Levi A., Garrett, Jeremy R., Lewis, Michelle Huckaby, Janne, Pasi A., Joffe, Steven, Kaufman, David, Knoppers, Bartha M., Krantz, Ian D., Parsons, Donald W., Petersen, Gloria M., Plon, Sharon E., Roberts, J. Scott, Salama, Joseph S., Shirts, Brian, Wilfond, Benjamin S., and Wilhelmsen, Kirk

Published
2016
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7. 338 The Alabama Genomic Health Initiative: Integrating Genomic Medicine into Primary Care

Author

Limdi, Nita A, primary, Absher, Devin, additional, Asif, Irf, additional, Bateman, Lori, additional, Barsh, Greg, additional, Bowling, Kevin M., additional, Cooper, Gregory M., additional, Davis, Brittney H., additional, East, Kelly M., additional, Finnila, Candice R., additional, Goff, Blake, additional, Hiatt, Susan, additional, Kelly, Melissa, additional, Kelley, Whitley V., additional, Korf, Bruce R., additional, Latner, Donald R., additional, Lawlor, James, additional, May, Thomas, additional, Might, Matt, additional, Moss, Irene P., additional, Nakano-Okuno, Mariko, additional, Osborne, Tiffany, additional, Sodeke, Stephen, additional, Stout, Adriana, additional, and Thompson, Michelle L., additional

Published
2023
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8. Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between

Author

Harley, John, Myers, Melanie, Namjou, Bahram, Vinks, Sander, Connolly, John, Keating, Brendan, Gerhard, Glenn, Sundaresan, Agnes, Tromp, Gerard, Crosslin, David, Leppig, Kathy, Wicklund, Cathy, Chute, Christopher, Lynch, John, De Andrade, Mariza, Heit, John, McCormick, Jen, Brilliant, Murray, Kitchner, Terrie, Ritchie, Marylyn, Böttinger, Erwin, Peter, Inga, Persell, Stephen, Rasmussen-Torvik, Laura, McGregor, Tracy, Roden, Dan, Antommaria, Armand, Chiavacci, Rosetta, Faucett, Andy, Ledbetter, David, Williams, Janet, Hartzler, Andrea, Vitek, Carolyn R. Rohrer, Frost, Norm, Ferryman, Kadija, Horowitz, Carol, Rhodes, Rosamond, Zinberg, Randi, Aufox, Sharon, Pan, Vivian, Long, Rochelle, Ramos, Erin, Odgis, Jackie, Wise, Anastasia, Hull, Sara, Gitlin, Jonathan, Green, Robert, Metterville, Danielle, McGuire, Amy, Kong, Sek Won, Trinidad, Sue, Veenstra, David, Roche, Myra, Skinner, Debra, Raspberry, Kelly, O’Daniel, Julianne, Parsons, Will, Eng, Christine, Hilsenbeck, Susan, Karavite, Dean, Conlin, Laura, Spinner, Nancy, Krantz, Ian, Falk, Marni, Santani, Avni, Dechene, Elizabeth, Dulik, Matthew, Bernhardt, Barbara, Schuetze, Scott, Everett, Jessica, Gornick, Michele Caroline, Wilfond, Ben, Tabor, Holly, Lemke, Amy A., Richards, Sue, Goddard, Katrina, Cooper, Greg, East, Kelly, Barsh, Greg, Koenig, Barbara, Van Allen, Eliezer, Garber, Judy, Garrett, Jeremy, Zawati, Ma’n, Lewis, Michelle, Savage, Sarah, Smith, Maureen, Roychowdhury, Sameek, Bailey, Alice, Berkman, Benjamin, Anan, Charlisse Caga, Hindorff, Lucia, Hutter, Carolyn, King, Rosalind, Li, Rongling, Lockhart, Nicole, McEwen, Jean, Scholes, Derek, Schully, Sheri, Sun, Kathie, Jarvik, Gail P., Amendola, Laura M., Berg, Jonathan S., Brothers, Kyle, Clayton, Ellen W., Chung, Wendy, Evans, Barbara J., Evans, James P., Fullerton, Stephanie M., Gallego, Carlos J., Garrison, Nanibaa’ A., Gray, Stacy W., Holm, Ingrid A., Kullo, Iftikhar J., Lehmann, Lisa Soleymani, McCarty, Cathy, Prows, Cynthia A., Rehm, Heidi L., Sharp, Richard R., Salama, Joseph, Sanderson, Saskia, Van Driest, Sara L., Williams, Marc S., Wolf, Susan M., Wolf, Wendy A., and Burke, Wylie

Published
2014
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9. Education and Training of Non-Genetics Providers on the Return of Genome Sequencing Results in a NICU Setting

Author

East, Kelly M., primary, Cochran, Meagan E., additional, Kelley, Whitley V., additional, Greve, Veronica, additional, Finnila, Candice R., additional, Coleman, Tanner, additional, Jennings, Mikayla, additional, Alexander, Latonya, additional, Rahn, Elizabeth J., additional, Danila, Maria I., additional, Barsh, Greg, additional, Korf, Bruce, additional, and Cooper, Greg, additional

Published
2022
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11. Genetic regulation ofOAS1nonsense-mediated decay underlies association with risk of severe COVID-19

Author

Banday, A Rouf, primary, Stanifer, Megan L, additional, Florez-Vargas, Oscar, additional, Onabajo, Olusegun O, additional, Zahoor, Muhammad A, additional, Papenberg, Brenen W, additional, Ring, Timothy J, additional, Lee, Chia-Han, additional, Andreakos, Evangelos, additional, Arons, Evgeny, additional, Barsh, Greg, additional, Biesecker, Leslie G, additional, Boyle, David L, additional, Burnett-Hartman, Andrea, additional, Carrington, Mary, additional, Chang, Euijin, additional, Choe, Pyoeng Gyun, additional, Chrisholm, Rex L, additional, Dalgard, Clifton, additional, Edberg, Jeff, additional, Erdmann, Nathan, additional, Feigelson, Heather S, additional, Firestein, Gary S, additional, Gehring, Adam J, additional, Ho, Michelle, additional, Holland, Steven, additional, Hutchinson, Amy A, additional, Im, Hogune, additional, Ison, Michael G, additional, Kim, Hong Bin, additional, Kreitman, Robert J, additional, Korf, Bruce R, additional, Mirabello, Lisa, additional, Pacheco, Jennifer A, additional, Peluso, Michael J, additional, Rader, Daniel J, additional, Redden, David T, additional, Ritchie, Marylyn D, additional, Rosenbloom, Brooke, additional, Sant Anna, Hanaisa P, additional, Savage, Sharon, additional, Siouti, Eleni, additional, Triantafyllia, Vasiliki, additional, Vargas, Joselin M, additional, Verma, Anurag, additional, Vij, Vibha, additional, Wesemann, Duane R, additional, Yeager, Meredith, additional, Yu, Xu, additional, Zhang, Yu, additional, Boulant, Steeve, additional, Chanock, Stephen J, additional, Feld, Jordan J, additional, and Prokunina-Olsson, Ludmila, additional

Published
2021
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13. Whole-genome sequences shed light onto demographic history and contemporaneous genetic erosion of free-ranging jaguar (Panthera onca) populations

Author

Lorenzana, Gustavo, primary, Figueiró, Henrique, additional, Kaelin, Christopher, additional, Barsh, Greg, additional, Johnson, Jeremy, additional, Karlsson, Elinor, additional, Morato, Ronaldo, additional, Sana, Denis, additional, Cullen, Laury, additional, Jr., Joares May, additional, Jr., Edsel Moraes, additional, Kantek, Daniel, additional, Silveira, Leandro, additional, Murphy, William, additional, Ryder, Oliver, additional, and Eizirik, Eduardo, additional

Published
2021
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14. The mouse Kreisler (Krml1/MafB) segmentation gene is required for differentiation of glomerular visceral epithelial cells

Author

Sadl, Virginia S., Jin, Fuzi, Yu, Joanna, Cui, Shiying, Holmyard, Douglas, Quaggin, Susan E., Barsh, Greg S., and Cordes, Sabine P.

Subjects
Cell differentiation -- Physiological aspects, Kidney diseases -- Research, Glomerular filtration rate -- Physiological aspects, Proteinuria -- Physiological aspects, Biological sciences
Abstract

Molecular components of the glomerular filtration mechanism play critical roles in renal diseases. Many of these components are produced during the final stages of differentiation of glomerular visceral epithelial cells, also known as podocytes. While basic domain leucine zipper (bZip) transcription factors of the Maf subfamily have been implicated in cellular differentiation processes, Kreisler (Krml1/MafB), the gene affected in the mouse kreisler (kr) mutation, is known for its role in hindbrain patterning. Here we show that mice homozygous for the k[r.sup.enu] mutation develop renal disease and that Kreisler is essential for cellular differentiation of podocytes. Consistent with abnormal podocyte differentiation, k[r.sup.enu] homozygotes show proteinuria, and fusion and effacement of podocyte foot processes, which are also observed in the nephrotic syndrome. Kreisler acts during the final stages of glomerular development--the transition between the capillary loop and mature stages--and downstream of the Pod1 basic domain helix-loop-helix transcription factor. The levels of Podocin, the gene mutated in autosomal recessive steroid-resistant nephrotic syndrome (NPHS2), and Nephrin, the gene mutated in congenital nephrotic syndrome of the Finnish type (NPHS1), are slightly reduced in k[r.sup.enu]/k[r.sup.enu] podocytes However, these observations alone are unlikely to account for the aberrant podocyte foot process formation. Thus, Kreisler must regulate other unknown genes required for podocyte function and with possible roles in kidney disease. Key Words: Kreisler (Krml1/MafB); Pod1 (epicardin/capsulin); podocyte; kidney disease; cellular differentiation; proteinuria.

Published
2002

15. Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals

Author

Higgins, Jan, primary, Dalgleish, Raymond, additional, Dunnen, Johan T., additional, Barsh, Greg, additional, Freeman, Peter J., additional, Cooper, David N., additional, Cullinan, Sara, additional, Davies, Kay E., additional, Dorkins, Huw, additional, Gong, Li, additional, Imoto, Issei, additional, Klein, Teri E., additional, Korf, Bruce, additional, Misra, Adya, additional, Paalman, Mark H., additional, Ratzel, Sarah, additional, Reichardt, Juergen K. V., additional, Rehm, Heidi L., additional, Tokunaga, Katsushi, additional, Weck, Karen E., additional, and Cutting, Garry R., additional

Published
2020
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17. Genetic regulation of OAS1nonsense-mediated decay underlies association with COVID-19 hospitalization in patients of European and African ancestries

Author

Banday, A. Rouf, Stanifer, Megan L., Florez-Vargas, Oscar, Onabajo, Olusegun O., Papenberg, Brenen W., Zahoor, Muhammad A., Mirabello, Lisa, Ring, Timothy J., Lee, Chia-Han, Albert, Paul S., Andreakos, Evangelos, Arons, Evgeny, Barsh, Greg, Biesecker, Leslie G., Boyle, David L., Brahier, Mark S., Burnett-Hartman, Andrea, Carrington, Mary, Chang, Euijin, Choe, Pyoeng Gyun, Chisholm, Rex L., Colli, Leandro M., Dalgard, Clifton L., Dude, Carolynn M., Edberg, Jeff, Erdmann, Nathan, Feigelson, Heather S., Fonseca, Benedito A., Firestein, Gary S., Gehring, Adam J., Guo, Cuncai, Ho, Michelle, Holland, Steven, Hutchinson, Amy A., Im, Hogune, Irby, Les’Shon, Ison, Michael G., Joseph, Naima T., Kim, Hong Bin, Kreitman, Robert J., Korf, Bruce R., Lipkin, Steven M., Mahgoub, Siham M., Mohammed, Iman, Paschoalini, Guilherme L., Pacheco, Jennifer A., Peluso, Michael J., Rader, Daniel J., Redden, David T., Ritchie, Marylyn D., Rosenblum, Brooke, Ross, M. Elizabeth, Anna, Hanaisa P. Sant, Savage, Sharon A., Sharma, Sudha, Siouti, Eleni, Smith, Alicia K., Triantafyllia, Vasiliki, Vargas, Joselin M., Vargas, Jose D., Verma, Anurag, Vij, Vibha, Wesemann, Duane R., Yeager, Meredith, Yu, Xu, Zhang, Yu, Boulant, Steeve, Chanock, Stephen J., Feld, Jordan J., and Prokunina-Olsson, Ludmila

Abstract

The chr12q24.13 locus encoding OAS1–OAS3 antiviral proteins has been associated with coronavirus disease 2019 (COVID-19) susceptibility. Here, we report genetic, functional and clinical insights into this locus in relation to COVID-19 severity. In our analysis of patients of European (n= 2,249) and African (n= 835) ancestries with hospitalized versus nonhospitalized COVID-19, the risk of hospitalized disease was associated with a common OAS1haplotype, which was also associated with reduced severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) clearance in a clinical trial with pegIFN-λ1. Bioinformatic analyses and in vitro studies reveal the functional contribution of two associated OAS1exonic variants comprising the risk haplotype. Derived human-specific alleles rs10774671-A and rs1131454-A decrease OAS1 protein abundance through allele-specific regulation of splicing and nonsense-mediated decay (NMD). We conclude that decreased OAS1expression due to a common haplotype contributes to COVID-19 severity. Our results provide insight into molecular mechanisms through which early treatment with interferons could accelerate SARS-CoV-2 clearance and mitigate against severe COVID-19.

Published
2022
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19. Segmental regulation of Hoxb-3 by kreisler

Author

Manzanares, Miguel, Cordes, Sabine, Chung-Tin Kwan, Sham, Mai Har, Barsh, Greg S., and Krumlauf, Robb

Subjects
Genetically modified animals -- Genetic aspects, Neurobiology -- Research, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Transgenic research has identified the mouse and chick gene enhancers used in rhombomere-restricted expression. Genetic sequences for the binding sites of the kreisler protein Kmrl1, a Maf/b-Zip protein expressed in rhombomere-5 and rhombomere-6, have also been identified. The research indicates that the segmental regulation of the Hoxb-3 gene is controlled by Kmrl1.

Published
1997

20. Chimeric homeobox gene E2A-PBX1 induces proliferation, apoptosis, and malignant lymphomas in transgenic mice

Author

Dedera, Douglas A., Waller, Edmund K., LeBrun, David P., Sen-Majumdar, Anish, Stevens, Mary E., Barsh, Greg S., and Cleary, Michael L.

Subjects
Homeobox genes -- Analysis, Immunoglobulins -- Influence, Genetically modified mice -- Research, Lymphoid tissue -- Observations, Biological sciences
Abstract

Malignancies in transgenic mice is induced efficiently by the expression of the homeobox fusion gene E2A-PBX1, which is controlled by the immunoglobulin heavy chain enhancer efficiency. The animals with lymphomas, exhibiting phenotypes consistent with transitional intermediate thymocytes, died before 5 months from birth. These pretumorous animals exhibited a reduction in the number of thymocytes and bone marrow B lineage progenitors to 20%. The proliferation and apoptosis in lymphoid cells is induced by the chimeric homeodomain.

Published
1993

30. Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals.

Author

Higgins, Jan, Dalgleish, Raymond, Dunnen, Johan T., Barsh, Greg, Freeman, Peter J., Cooper, David N., Cullinan, Sara, Davies, Kay E., Dorkins, Huw, Gong, Li, Imoto, Issei, Klein, Teri E., Korf, Bruce, Misra, Adya, Paalman, Mark H., Ratzel, Sarah, Reichardt, Juergen K. V., Rehm, Heidi L., Tokunaga, Katsushi, and Weck, Karen E.

Abstract

Documenting variation in our genomes is important for research and clinical care. Accuracy in the description of DNA variants is therefore essential. To address this issue, the Human Variome Project convened a committee to evaluate the feasibility of requiring authors to verify that all variants submitted for publication complied with a widely accepted standard for description. After a pilot study of two journals, the committee agreed that requiring authors to verify that variants complied with Human Genome Variation Society nomenclature is a reasonable step toward standardizing the worldwide inventory of human variation. [ABSTRACT FROM AUTHOR]

Published
2021
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31. Genetic and Molecular Basis of Mammalian Pigmentation Patterns

Author

Barsh, Greg, Candille, Sophie, van Raamsdonk, Cathy, and Chen-Tsai, Yanru

Subjects
Developmental biology -- Research, Molecular genetics -- Research, Skin color -- Genetic aspects, Biological sciences
Abstract

Genes that control pigment type switching are responsible for color patterns in many different mammals including black-and-tan in mice and dogs, brindling and dominant black in dogs, and tabby striping in cats. A key signaling molecule in this process is Agouti protein, which is secreted by a specialized group of cells at the base of hair follicles and causes overlying melanocytes to switch from the synthesis of black/brown eumelanin to red/yellow pheomelanin. In the wild-type configuration, the Agouti gene is controlled by two promoters. A hair-cycle-specific promoter drives expression in early anagen, causing a subapical band of yellow pigment on an otherwise black background. A second ventral promoter drives expression throughout the entire hair growth cycle, but only in hair follicles on the ventral surface of the body, and is responsible for the yellow or white ventral coloration characteristic of many different species. Transgenic studies reveal an intronic enhancer that activates Agouti expression specifically in dermal papillae but is unregulated spatially or temporally. This enhancer functions together with an adjacent silencer which has no effect by itself, but when coinjected or fused to the enhancer, causes a perfect recapitulation of the Agouti banding pattern. A second silencer that lies 100 kb away recapitulates the black-and-tan phenotype when fused to the dermal papilla enhancer and the Agouti cDNA. Molecular dissection of the Agouti enhancer-silencer system has identified signaling systems likely to link hair cycling to pigment type switching; in addition, previously existing mutations that affect pigment patterns have been used as an entry point to study the ventral-specific enhancer.

Published
2001

32. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Author

Green, Robert C., primary, Goddard, Katrina A.B., additional, Jarvik, Gail P., additional, Amendola, Laura M., additional, Appelbaum, Paul S., additional, Berg, Jonathan S., additional, Bernhardt, Barbara A., additional, Biesecker, Leslie G., additional, Biswas, Sawona, additional, Blout, Carrie L., additional, Bowling, Kevin M., additional, Brothers, Kyle B., additional, Burke, Wylie, additional, Caga-anan, Charlisse F., additional, Chinnaiyan, Arul M., additional, Chung, Wendy K., additional, Clayton, Ellen W., additional, Cooper, Gregory M., additional, East, Kelly, additional, Evans, James P., additional, Fullerton, Stephanie M., additional, Garraway, Levi A., additional, Garrett, Jeremy R., additional, Gray, Stacy W., additional, Henderson, Gail E., additional, Hindorff, Lucia A., additional, Holm, Ingrid A., additional, Lewis, Michelle Huckaby, additional, Hutter, Carolyn M., additional, Janne, Pasi A., additional, Joffe, Steven, additional, Kaufman, David, additional, Knoppers, Bartha M., additional, Koenig, Barbara A., additional, Krantz, Ian D., additional, Manolio, Teri A., additional, McCullough, Laurence, additional, McEwen, Jean, additional, McGuire, Amy, additional, Muzny, Donna, additional, Myers, Richard M., additional, Nickerson, Deborah A., additional, Ou, Jeffrey, additional, Parsons, Donald W., additional, Petersen, Gloria M., additional, Plon, Sharon E., additional, Rehm, Heidi L., additional, Roberts, J. Scott, additional, Robinson, Dan, additional, Salama, Joseph S., additional, Scollon, Sarah, additional, Sharp, Richard R., additional, Shirts, Brian, additional, Spinner, Nancy B., additional, Tabor, Holly K., additional, Tarczy-Hornoch, Peter, additional, Veenstra, David L., additional, Wagle, Nikhil, additional, Weck, Karen, additional, Wilfond, Benjamin S., additional, Wilhelmsen, Kirk, additional, Wolf, Susan M., additional, Wynn, Julia, additional, Yu, Joon-Ho, additional, Amaral, Michelle, additional, Amendola, Laura, additional, Aronson, Samuel J., additional, Arora, Shubhangi, additional, Azzariti, Danielle R., additional, Barsh, Greg S., additional, Bebin, E.M., additional, Biesecker, Barbara B., additional, Brown, Brian L., additional, Burt, Amber A., additional, Byers, Peter H., additional, Calikoglu, Muge G., additional, Carlson, Sara J., additional, Chahin, Nizar, additional, Christensen, Kurt D., additional, Chung, Wendy, additional, Cirino, Allison L., additional, Clayton, Ellen, additional, Conlin, Laura K., additional, Cooper, Greg M., additional, Crosslin, David R., additional, Davis, James V., additional, Davis, Kelly, additional, Deardorff, Matthew A., additional, Devkota, Batsal, additional, De Vries, Raymond, additional, Diamond, Pamela, additional, Dorschner, Michael O., additional, Dugan, Noreen P., additional, Dukhovny, Dmitry, additional, Dulik, Matthew C., additional, East, Kelly M., additional, Rivera-Munoz, Edgar A., additional, Evans, Barbara, additional, Everett, Jessica, additional, Exe, Nicole, additional, Fan, Zheng, additional, Feuerman, Lindsay Z., additional, Filipski, Kelly, additional, Finnila, Candice R., additional, Fishler, Kristen, additional, Ghrundmeier, Bob, additional, Giles, Karen, additional, Gilmore, Marian J., additional, Girnary, Zahra S., additional, Goddard, Katrina, additional, Gonsalves, Steven, additional, Gordon, Adam S., additional, Gornick, Michele C., additional, Grady, William M., additional, Gray, David E., additional, Green, Robert, additional, Greenwood, Robert S., additional, Gutierrez, Amanda M., additional, Han, Paul, additional, Hart, Ragan, additional, Heagerty, Patrick, additional, Hensman, Naomi, additional, Hiatt, Susan M., additional, Himes, Patricia, additional, Hisama, Fuki M., additional, Ho, Carolyn Y., additional, Hoffman-Andrews, Lily B., additional, Hong, Celine, additional, Horike-Pyne, Martha J., additional, Hull, Sara, additional, Jamal, Seema, additional, Jensen, Brian C., additional, Joffe, Steve, additional, Johnston, Jennifer, additional, Karavite, Dean, additional, Kauffman, Tia L., additional, Kaufman, Dave, additional, Kelley, Whitley, additional, Kim, Jerry H., additional, Kirby, Christine, additional, Klein, William, additional, Knoppers, Bartha, additional, Kong, Sek Won, additional, Krantz, Ian, additional, Krier, Joel B., additional, Lamb, Neil E., additional, Lambert, Michele P., additional, Le, Lan Q., additional, Lebo, Matthew S., additional, Lee, Alexander, additional, Lee, Kaitlyn B., additional, Lennon, Niall, additional, Leo, Michael C., additional, Leppig, Kathleen A., additional, Lewis, Katie, additional, Lewis, Michelle, additional, Lindeman, Neal I., additional, Lockhart, Nicole, additional, Lonigro, Bob, additional, Lose, Edward J., additional, Lupo, Philip J., additional, Rodriguez, Laura Lyman, additional, Lynch, Frances, additional, Machini, Kalotina, additional, MacRae, Calum, additional, Marchuk, Daniel S., additional, Martinez, Josue N., additional, Masino, Aaron, additional, McLaughlin, Heather M., additional, McMullen, Carmit, additional, Mieczkowski, Piotr A., additional, Miller, Jeff, additional, Miller, Victoria A., additional, Mody, Rajen, additional, Mooney, Sean D., additional, Moore, Elizabeth G., additional, Morris, Elissa, additional, Murray, Michael, additional, Ng, David, additional, Oliver, Nelly M., additional, Parsons, Will, additional, Patrick, Donald L., additional, Pennington, Jeffrey, additional, Perry, Denise L., additional, Petersen, Gloria, additional, Plon, Sharon, additional, Porter, Katie, additional, Powell, Bradford C., additional, Punj, Sumit, additional, Breitkopf, Carmen Radecki, additional, Raesz-Martinez, Robin A., additional, Raskind, Wendy H., additional, Reigar, Dean A., additional, Reiss, Jacob A., additional, Rich, Carla A., additional, Richards, Carolyn Sue, additional, Rini, Christine, additional, Roberts, Scott, additional, Robertson, Peggy D., additional, Robinson, Jill O., additional, Robinson, Marguerite E., additional, Roche, Myra I., additional, Romasko, Edward J., additional, Rosenthal, Elisabeth A., additional, Salama, Joseph, additional, Scarano, Maria I., additional, Schneider, Jennifer, additional, Seidman, Christine E., additional, Seifert, Bryce A., additional, Shirts, Brian H., additional, Sholl, Lynette M., additional, Siddiqui, Javed, additional, Silverman, Elian, additional, Simmons, Shirley, additional, Simons, Janae V., additional, Skinner, Debra, additional, Stoffel, Elena, additional, Strande, Natasha T., additional, Sunyaev, Shamil, additional, Sybert, Virginia P., additional, Taber, Jennifer, additional, Taylor, Deanne M., additional, Tilley, Christian R., additional, Tomlinson, Ashley, additional, Trinidad, Susan, additional, Tsai, Ellen, additional, Ubel, Peter, additional, Van Allen, Eliezer M., additional, Vassy, Jason L., additional, Vats, Pankaj, additional, Vetter, Victoria L., additional, Vries, Raymond D., additional, Walser, Sarah A., additional, Walsh, Rebecca C., additional, Werner-Lin, Allison, additional, Whittle, Jana, additional, Wilfond, Ben, additional, Wilhelmsen, Kirk C., additional, Yang, Yaping, additional, Young, Carol, additional, and Zikmund-Fisher, Brian J., additional

Published
2016
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33. In vivo regulation of human skeletal muscle gene expression by thyroid hormone

Author

Clement, Karine, Viguerie, Nathalie, Diehn, Maximilian, Alizadeh, Ash;, Thalamas, Claire, Storey, John D., Brown, Patrick O., Langin, Dominique, Barbe, Pierre, and Barsh, Greg S.

Subjects
Hyperthyroidism -- Research, Gene expression -- Research, Muscles -- Genetic aspects, Muscles -- Research, Health
Abstract

Hyperthyroidism that increase metabolic rate, protein breakdown and weight loss is discussed. The application of cDNA microarray technology to study the effect of thyroid hormone in vivo on human skeletal muscle is reported.

Published
2002

34. Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between

Author

Jarvik, Gail P., primary, Amendola, Laura M., additional, Berg, Jonathan S., additional, Brothers, Kyle, additional, Clayton, Ellen W., additional, Chung, Wendy, additional, Evans, Barbara J., additional, Evans, James P., additional, Fullerton, Stephanie M., additional, Gallego, Carlos J., additional, Garrison, Nanibaa’ A., additional, Gray, Stacy W., additional, Holm, Ingrid A., additional, Kullo, Iftikhar J., additional, Lehmann, Lisa Soleymani, additional, McCarty, Cathy, additional, Prows, Cynthia A., additional, Rehm, Heidi L., additional, Sharp, Richard R., additional, Salama, Joseph, additional, Sanderson, Saskia, additional, Van Driest, Sara L., additional, Williams, Marc S., additional, Wolf, Susan M., additional, Wolf, Wendy A., additional, Burke, Wylie, additional, Harley, John, additional, Myers, Melanie, additional, Namjou, Bahram, additional, Vinks, Sander, additional, Connolly, John, additional, Keating, Brendan, additional, Gerhard, Glenn, additional, Sundaresan, Agnes, additional, Tromp, Gerard, additional, Crosslin, David, additional, Leppig, Kathy, additional, Wicklund, Cathy, additional, Chute, Christopher, additional, Lynch, John, additional, De Andrade, Mariza, additional, Heit, John, additional, McCormick, Jen, additional, Brilliant, Murray, additional, Kitchner, Terrie, additional, Ritchie, Marylyn, additional, Böttinger, Erwin, additional, Peter, Inga, additional, Persell, Stephen, additional, Rasmussen-Torvik, Laura, additional, McGregor, Tracy, additional, Roden, Dan, additional, Antommaria, Armand, additional, Chiavacci, Rosetta, additional, Faucett, Andy, additional, Ledbetter, David, additional, Williams, Janet, additional, Hartzler, Andrea, additional, Vitek, Carolyn R. Rohrer, additional, Frost, Norm, additional, Ferryman, Kadija, additional, Horowitz, Carol, additional, Rhodes, Rosamond, additional, Zinberg, Randi, additional, Aufox, Sharon, additional, Pan, Vivian, additional, Long, Rochelle, additional, Ramos, Erin, additional, Odgis, Jackie, additional, Wise, Anastasia, additional, Hull, Sara, additional, Gitlin, Jonathan, additional, Green, Robert, additional, Metterville, Danielle, additional, McGuire, Amy, additional, Kong, Sek Won, additional, Trinidad, Sue, additional, Veenstra, David, additional, Roche, Myra, additional, Skinner, Debra, additional, Raspberry, Kelly, additional, O’Daniel, Julianne, additional, Parsons, Will, additional, Eng, Christine, additional, Hilsenbeck, Susan, additional, Karavite, Dean, additional, Conlin, Laura, additional, Spinner, Nancy, additional, Krantz, Ian, additional, Falk, Marni, additional, Santani, Avni, additional, Dechene, Elizabeth, additional, Dulik, Matthew, additional, Bernhardt, Barbara, additional, Schuetze, Scott, additional, Everett, Jessica, additional, Gornick, Michele Caroline, additional, Wilfond, Ben, additional, Tabor, Holly, additional, Lemke, Amy A., additional, Richards, Sue, additional, Goddard, Katrina, additional, Cooper, Greg, additional, East, Kelly, additional, Barsh, Greg, additional, Koenig, Barbara, additional, Van Allen, Eliezer, additional, Garber, Judy, additional, Garrett, Jeremy, additional, Zawati, Ma’n, additional, Lewis, Michelle, additional, Savage, Sarah, additional, Smith, Maureen, additional, Roychowdhury, Sameek, additional, Bailey, Alice, additional, Berkman, Benjamin, additional, Anan, Charlisse Caga, additional, Hindorff, Lucia, additional, Hutter, Carolyn, additional, King, Rosalind, additional, Li, Rongling, additional, Lockhart, Nicole, additional, McEwen, Jean, additional, Scholes, Derek, additional, Schully, Sheri, additional, and Sun, Kathie, additional

Published
2014
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35. From Agouti to Pomc -- 100 years of fat blonde mice

Author

Barsh, Greg

Subjects
Intermedin -- Genetic aspects, Genetic disorders -- Research
Abstract

A mouse model of deficiencies in melanocortin production should help elucidate the genetic nature of these disorders. The mouse has a knockout gene for proopiomelanocortin (POMC), which is the precursor of melanocortin peptides as well as beta-endophin.

Published
1999

41. A Candidate Mechanism Underlying the Variance of Interictal Spike Propagation.

Author

Sabolek, Helen R., Swiercz, Waldemar B., Lillis, Kyle P., Cash, Sydney S., Huberfeld, Gilles, Zhao, Grace, Marie, Linda Ste., Clemenceau, Stéphane, Barsh, Greg, Miles, Richard, and Staley, Kevin J.

Subjects
ANALYSIS of variance, BIOLOGICAL neural networks, STEREOTYPES, COMPUTER simulation, ANATOMY, ARTIFICIAL neural networks, CHEMICAL inhibitors, VARIABILITY (Psychometrics)
Abstract

Synchronous activation of neural networks is an important physiological mechanism, and dysregulation of synchrony forms the basis of epilepsy. We analyzed the propagation of synchronous activity through chronically epileptic neural networks. Electrocorticographic recordings from epileptic patients demonstrate remarkable variance in the pathways of propagation between sequential interictal spikes (IISs). Calcium imaging in chronically epileptic slice cultures demonstrates that pathway variance depends on the presence of GABAergic inhibition and that spike propagation becomes stereotyped following GABA receptor blockade. Computer modeling suggests that GABAergic quenching of local network activations leaves behind regions of refractory neurons, whose late recruitment forms the anatomical basis of variability during subsequent network activation. Targeted path scanning of slice cultures confirmed local activations, while ex vivo recordings of human epileptic tissue confirmed the dependence of interspike variance on GABA-mediated inhibition. These data support the hypothesis that the paths by which synchronous activity spreads through an epileptic network change with each activation, based on the recent history of localized activity that has been successfully inhibited. [ABSTRACT FROM AUTHOR]

Published
2012
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44. Conserved and distinct roles of kreisler in regulation of the paralogous Hoxa3 and Hoxb3 genes

Author

Manzanares, Miguel, Cordes, Sabine, Ariza-McNaughton, Linda, Sadl, Virginia, Maruthainar, Kamala, Barsh, Greg, and Krumlauf, Robb

Abstract

During anteroposterior patterning of the developing hindbrain, the anterior expression of 3′ Hox genes maps to distinct rhombomeric boundaries and, in many cases, is upregulated in specific segments. Paralogous genes frequently have similar anterior boundaries of expression but it is not known if these are controlled by common mechanisms. The expression of the paralogous Hoxa3 and Hoxb3 genes extends from the posterior spinal cord up to the rhombomere (r) 4/5 boundary and both genes are upregulated specifically in r5. However, in this study, we have found that Hoxa3 expression is also upregulated in r6, showing that there are differences in segmental expression between paralogues. We have used transgenic analysis to investigate the mechanisms underlying the pattern of segmental expression of Hoxa3. We found that the intergenic region between Hoxa3 and Hoxa4 contains several enhancers, which summed together mediate a pattern of expression closely resembling that of the endogenous Hoxa3 gene. One enhancer specifically directs expression in r5 and r6, in a manner that reflects the upregulation of the endogenous gene in these segments. Deletion analysis localized this activity to a 600 bp fragment that was found to contain a single high-affinity binding site for the Maf bZIP protein Krml1, encoded by the kreisler gene. This site is necessary for enhancer activity and when multimerized it is sufficient to direct a kreisler-like pattern in transgenic embryos. Furthermore the r5/r6 enhancer activity is dependent upon endogenous kreisler and is activated by ectopic kreisler expression. This demonstrates that Hoxa3, along with its paralog Hoxb3, is a direct target of kreisler in the mouse hindbrain. Comparisons between the Krml1-binding sites in the Hoxa3 and Hoxb3 enhancers reveal that there are differences in both the number of binding sites and way that kreisler activity is integrated and restricted by these two control regions. Analysis of the individual sites revealed that they have different requirements for mediating r5/r6 and dorsal roof plate expression. Therefore, the restriction of Hoxb3 to r5 and Hoxa3 to r5 and r6, together with expression patterns of Hoxb3 in other vertebrate species suggests that these regulatory elements have a common origin but have later diverged during vertebrate evolution.

Published
1999
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45. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Author

Wilhelmsen, Kirk, Plon, Sharon E., Deardorff, Matthew A., Conlin, Laura K., Appelbaum, Paul S., Berg, Jonathan S., Davis, James V., Ho, Carolyn Y., Vetter, Victoria L., Gornick, Michele C., Biesecker, Leslie G., Jarvik, Gail P., Raskind, Wendy H., Yang, Yaping, Blout, Carrie L., Manolio, Teri A., Goddard, Katrina A.B., Punj, Sumit, Masino, Aaron, Cooper, Greg M., Oliver, Nelly M., Machini, Kalotina, Robinson, Dan, Burt, Amber A., Vassy, Jason L., Roberts, J. Scott, Amaral, Michelle, Ghrundmeier, Bob, Janne, Pasi A., Wilhelmsen, Kirk C., Rehm, Heidi L., Perry, Denise L., Fullerton, Stephanie M., Tsai, Ellen, Tarczy-Hornoch, Peter, Gray, David E., Joffe, Steven, Evans, Barbara, McEwen, Jean, Devkota, Batsal, Scarano, Maria I., Arora, Shubhangi, Lewis, Katie, Lebo, Matthew S., Rivera-Munoz, Edgar A., Richards, Carolyn Sue, Johnston, Jennifer, Lynch, Frances, Werner-Lin, Allison, Veenstra, David L., Patrick, Donald L., Kelley, Whitley, Koenig, Barbara A., Kaufman, Dave, Lambert, Michele P., Mody, Rajen, Dulik, Matthew C., Karavite, Dean, Porter, Katie, Han, Paul, Clayton, Ellen W., Grady, William M., Sharp, Richard R., Rini, Christine, Le, Lan Q., Vats, Pankaj, Filipski, Kelly, Finnila, Candice R., Young, Carol, Skinner, Debra, Martinez, Josue N., Kirby, Christine, Feuerman, Lindsay Z., Mooney, Sean D., Caga-Anan, Charlisse F., Evans, James P., Powell, Bradford C., Taber, Jennifer, Brown, Brian L., Murray, Michael, Bernhardt, Barbara A., Fishler, Kristen, McMullen, Carmit, East, Kelly, Amendola, Laura M., Wolf, Susan M., Stoffel, Elena, Azzariti, Danielle R., Greenwood, Robert S., Garraway, Levi A., Knoppers, Bartha M., Reigar, Dean A., Green, Robert C., Robinson, Marguerite E., Kaufman, David, Parsons, Will, Hong, Celine, Scollon, Sarah, Marchuk, Daniel S., Chung, Wendy K., Sholl, Lynette M., Yu, Joon-Ho, Girnary, Zahra S., Lamb, Neil E., Lee, Alexander, Ng, David, Davis, Kelly, Bebin, Gordon, Adam S., Dorschner, Michael O., Hutter, Carolyn M., Christensen, Kurt D., Henderson, Gail E., Trinidad, Susan, Rich, Carla A., Diamond, Pamela, Lee, Kaitlyn B., Gonsalves, Steven, Hull, Sara, Hisama, Fuki M., Aronson, Samuel J., Kong, Sek Won, Hindorff, Lucia A., Shirts, Brian, Gilmore, Marian J., Carlson, Sara J., Walser, Sarah A., Spinner, Nancy B., Biesecker, Barbara B., Shirts, Brian H., Jamal, Seema, Ou, Jeffrey, Wynn, Julia, Chahin, Nizar, Kauffman, Tia L., Gutierrez, Amanda M., Tabor, Holly K., Siddiqui, Javed, Tomlinson, Ashley, Klein, William, Roberts, Scott, Horike-Pyne, Martha J., Byers, Peter H., Fan, Zheng, Parsons, Donald W., Mieczkowski, Piotr A., Moore, Elizabeth G., Myers, Richard M., Lennon, Niall, Holm, Ingrid A., Miller, Jeff, Silverman, Elian, Kim, Jerry H., Morris, Elissa, Cooper, Gregory M., East, Kelly M., Seifert, Bryce A., Burke, Wylie, Calikoglu, Muge G., Strande, Natasha T., Lupo, Philip J., Lonigro, Bob, Walsh, Rebecca C., Whittle, Jana, Muzny, Donna, Crosslin, David R., Pennington, Jeffrey, Giles, Karen, Cirino, Allison L., Hoffman-Andrews, Lily B., Gray, Stacy W., Chinnaiyan, Arul M., Nickerson, Deborah A., Raesz-Martinez, Robin A., Hart, Ragan, Dugan, Noreen P., Heagerty, Patrick, Macrae, Calum, Leppig, Kathleen A., Roche, Myra I., Rodriguez, Laura Lyman, Van Allen, Eliezer M., Brothers, Kyle B., Himes, Patricia, Breitkopf, Carmen Radecki, De Vries, Raymond, Rosenthal, Elisabeth A., Sybert, Virginia P., Lockhart, Nicole, Exe, Nicole, Krantz, Ian D., Simmons, Shirley, Biswas, Sawona, Simons, Janae V., Lewis, Michelle Huckaby, Romasko, Edward J., Garrett, Jeremy R., Lindeman, Neal I., Sunyaev, Shamil, Krier, Joel B., Seidman, Christine E., Hiatt, Susan M., Bowling, Kevin M., Leo, Michael C., Robinson, Jill O., Salama, Joseph S., Wilfond, Benjamin S., Barsh, Greg S., Reiss, Jacob A., Tilley, Christine R., Zikmund-Fisher, Brian J, McGuire, Amy, Miller, Victoria A., Taylor, Deanne M., Jensen, Brian C., McCullough, Laurence, Dukhovny, Dmitry, Weck, Karen, Everett, Jessica, Robertson, Peggy D., Schneider, Jennifer, Vries, Raymond D., Petersen, Gloria M., Wagle, Nikhil, McLaughlin, Heather M., Lose, Edward J., and Hensman, Naomi

Subjects
3. Good health
Abstract

Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and exome sequencing (CGES) and its role within the practice of medicine. The Clinical Sequencing Exploratory Research (CSER) consortium includes 18 extramural research projects, one National Human Genome Research Institute (NHGRI) intramural project, and a coordinating center funded by the NHGRI and National Cancer Institute. The consortium is exploring analytic and clinical validity and utility, as well as the ethical, legal, and social implications of sequencing via multidisciplinary approaches; it has thus far recruited 5,577 participants across a spectrum of symptomatic and healthy children and adults by utilizing both germline and cancer sequencing. The CSER consortium is analyzing data and creating publically available procedures and tools related to participant preferences and consent, variant classification, disclosure and management of primary and secondary findings, health outcomes, and integration with electronic health records. Future research directions will refine measures of clinical utility of CGES in both germline and somatic testing, evaluate the use of CGES for screening in healthy individuals, explore the penetrance of pathogenic variants through extensive phenotyping, reduce discordances in public databases of genes and variants, examine social and ethnic disparities in the provision of genomics services, explore regulatory issues, and estimate the value and downstream costs of sequencing. The CSER consortium has established a shared community of research sites by using diverse approaches to pursue the evidence-based development of best practices in genomic medicine.

46. From Agouti to Pomc?100 years of fat blonde mice.

Author

Barsh, Greg

Subjects
*PROOPIOMELANOCORTIN, *OBESITY, *ENDORPHINS
Abstract

Studies of mice deficient for proopiomelanocortin (Pomc) yield surprising results, and finally take us beyond the Ay model of melanocortin deficiency (pages 1066?1070). [ABSTRACT FROM AUTHOR]

Published
1999
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48. Engineering the Melanocortin-4 Receptor to Control Constitutive and Ligand-Mediated Gs Signaling In Vivo

Author

Pamela Santiago, Cecile Lubrano, Supriya Srinivasan, Christian Vaisse, Bruce R. Conklin, and Barsh, Greg

Subjects
Models, Molecular, Protein Conformation, lcsh:Medicine, Kidney, Protein Engineering, Diabetes and Endocrinology/Obesity, 0302 clinical medicine, Models, Tetrahydroisoquinolines, Cyclic AMP, lcsh:Science, Receptor, 0303 health sciences, Multidisciplinary, Transfection, Ligand (biochemistry), Cell biology, Melanocortin 4 receptor, Biochemistry, Melanocortin, Receptor, Melanocortin, Type 4, Type 4, Research Article, Heterozygote, General Science & Technology, 1.1 Normal biological development and functioning, Molecular Sequence Data, Biology, Cell Line, 03 medical and health sciences, Clinical Research, Underpinning research, In vivo, Genetics, Humans, Point Mutation, Obesity, Amino Acid Sequence, 030304 developmental biology, G protein-coupled receptor, Pharmacology, lcsh:R, Cell Membrane, Molecular, Protein engineering, Triazoles, Kinetics, alpha-MSH, lcsh:Q, Generic health relevance, 030217 neurology & neurosurgery, Neuroscience, Hormone
Abstract

The molecular and functional diversity of G protein-coupled receptors is essential to many physiological processes. However, this diversity presents a significant challenge to understanding the G protein-mediated signaling events that underlie a specific physiological response. To increase our understanding of these processes, we sought to gain control of the timing and specificity of G(s) signaling in vivo. We used naturally occurring human mutations to develop two G(s)-coupled engineered receptors that respond solely to a synthetic ligand (RASSLs). Our G(s)-coupled RASSLs are based on the melanocortin-4 receptor, a centrally expressed receptor that plays an important role in the regulation of body weight. These RASSLs are not activated by the endogenous hormone alpha-melanocyte-stimulating hormone but respond potently to a selective synthetic ligand, tetrahydroisoquinoline. The RASSL variants reported here differ in their intrinsic basal activities, allowing the separation of the effects of basal signaling from ligand-mediated activation of the G(s) pathway in vivo. These RASSLs can be used to activate G(s) signaling in any tissue, but would be particularly useful for analyzing downstream events that mediate body weight regulation in mice. Our study also demonstrates the use of human genetic variation for protein engineering.

Published
2007
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49. Genetic regulation of OAS1 nonsense-mediated decay underlies association with risk of severe COVID-19.

Author

Banday AR, Stanifer ML, Florez-Vargas O, Onabajo OO, Zahoor MA, Papenberg BW, Ring TJ, Lee CH, Andreakos E, Arons E, Barsh G, Biesecker LG, Boyle DL, Burnett-Hartman A, Carrington M, Chang E, Choe PG, Chrisholm RL, Dalgard C, Edberg J, Erdmann N, Feigelson HS, Firestein GS, Gehring AJ, Ho M, Holland S, Hutchinson AA, Im H, Ison MG, Kim HB, Kreitman RJ, Korf BR, Mirabello L, Pacheco JA, Peluso MJ, Rader DJ, Redden DT, Ritchie MD, Rosenbloom B, Sant Anna HP, Savage S, Siouti E, Triantafyllia V, Vargas JM, Verma A, Vij V, Wesemann DR, Yeager M, Yu X, Zhang Y, Boulant S, Chanock SJ, Feld JJ, and Prokunina-Olsson L

Abstract

Genomic regions have been associated with COVID-19 susceptibility and outcomes, including the chr12q24.13 locus encoding antiviral proteins OAS1-3. Here, we report genetic, functional, and clinical insights into genetic associations within this locus. In Europeans, the risk of hospitalized vs. non-hospitalized COVID-19 was associated with a single 19Kb-haplotype comprised of 76 OAS1 variants included in a 95% credible set within a large genomic fragment introgressed from Neandertals. The risk haplotype was also associated with impaired spontaneous but not treatment-induced SARS-CoV-2 clearance in a clinical trial with pegIFN-λ1. We demonstrate that two exonic variants, rs10774671 and rs1131454, affect splicing and nonsense-mediated decay of OAS1 . We suggest that genetically-regulated loss of OAS1 expression contributes to impaired spontaneous clearance of SARS-CoV-2 and elevated risk of hospitalization for COVID-19. Our results provide the rationale for further clinical studies using interferons to compensate for impaired spontaneous SARS-CoV-2 clearance, particularly in carriers of the OAS1 risk haplotypes.

Published
2021
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