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8 results on '"Friedman, Cynthia"'

1. Chimpanzee and human Y chromosomes are remarkably divergent in structure and gene content

Author

Hughes, Jennifer F., Skaletsky, Helen, Pyntikova, Tatyana, Graves, Tina A., van Daalen, Saskia K.M., Minx, Patrick J., Fulton, Robert S., McGrath, Sean D., Locke, Devin P., Friedman, Cynthia, Trask, Barbara J., Mardis, Elaine R., Warren, Wesley C., Repping, Sjoerd, Rozen, Steve, Wilson, Richard K., and Page, David C.

Subjects
Man -- Genetic aspects -- Research, Chimpanzees -- Research -- Genetic aspects, Human beings -- Genetic aspects -- Research, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

The human Y chromosome began to evolve from an autosome hundreds of millions of years ago, acquiring a sex-determining function and undergoing a series of inversions that suppressed crossing over with the X chromosome (1,2). Little is known about the recent evolution of the Y chromosome because only the human Y chromosome has been fully sequenced. Prevailing theories hold that Y chromosomes evolve by gene loss, the pace of which slows over time, eventually leading to a paucity of genes, and stasis (3,4). These theories have been buttressed by partial sequence data from newly emergent plant and animal Y chromosomes (5-8), but they have not been tested in older, highly evolved Y chromosomes such as that of humans. Here we finished sequencing of the male-specific region of the Y chromosome (MSY) in our closest living relative, the chimpanzee, achieving levels of accuracy and completion previously reached for the human MSY. By comparing the MSYs of the two species we show that they differ radically in sequence structure and gene content, indicating rapid evolution during the past 6 million years. The chimpanzee MSY contains twice as many massive palindromes as the human MSY, yet it has lost large fractions of the MSY protein-coding genes and gene families present in the last common ancestor. We suggest that the extraordinary divergence of the chimpanzee and human MSYs was driven by four synergistic factors: the prominent role of the MSY in sperm production, 'genetic hitchhiking' effects in the absence of meiotic crossing over, frequent ectopic recombination within the MSY, and species differences in mating behaviour. Although genetic decay may be the principal dynamic in the evolution of newly emergent Y chromosomes, wholesale renovation is the paramount theme in the continuing evolution of chimpanzee, human and perhaps other older MSYs., This study required that we first complete the sequencing of the chimpanzee MSY (9-11) using large-insert bacterial artificial chromosome (BAC) clones and the iterative mapping and sequencing strategy used to [...]

Published
2010
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2. Secondary mutations as a mechanism of cisplatin resistance in BRCA2-mutated cancers

Author

Sakai, Wataru, Swisher, Elizabeth M., Karlan, Beth Y., Agarwal, Mukesh K., Higgins, Jake, Friedman, Cynthia, Villegas, Emily, Jacquemont, Celine, Farrugia, Daniel J., Couch, Fergus J., Urban, Nicole, and Taniguchi, Toshiyasu

Subjects
Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Ovarian carcinomas with mutations in the tumour suppressor BRCA2 are particularly sensitive to platinum compounds (1). However, such carcinomas ultimately develop cisplatin resistance. The mechanism of that resistance is largely [...]

Published
2008

3. Analysis of the DNA sequence and duplication history of human chromosome 15

Author

Zody, Michael C., Garber, Manuel, Sharpe, Ted, Young, Sarah K., Rowen, Lee, O'Neill, Keith, Whittaker, Charles A., Kamal, Michael, Chang, Jean L., Cuomo, Christina A., Dewar, Ken, FitzGerald, Michael G., Kodira, Chinnappa D., Madan, Anup, Qin, Shizhen, Yang, Xiaoping, Abbasi, Nissa, Abouelleil, Amr, Arachchi, Harindra M., Baradarani, Lida, Birditt, Brian, Bloom, Scott, Bloom, Toby, Borowsky, Mark L., Burke, Jeremy, Butler, Jonathan, Cook, April, DeArellano, Kurt, DeCaprio, David, Dorris, III, Lester, Dors, Monica, Eichler, Evan E., Engels, Reinhard, Fahey, Jessica, Fleetwood, Peter, Friedman, Cynthia, Gearin, Gary, Hall, Jennifer L., Hensley, Grace, Johnson, Ericka, Jones, Charlien, Kamat, Asha, Kaur, Amardeep, Locke, Devin P., Madan, Anuradha, Munson, Glen, Jaffe, David B., Lui, Annie, Macdonald, Pendexter, Mauceli, Evan, Naylor, Jerome W., Nesbitt, Ryan, Nicol, Robert, O'Leary, Sinead B., Ratcliffe, Amber, Rounsley, Steven, She, Xinwei, Sneddon, Katherine M. B., Stewart, Sandra, Sougnez, Carrie, Stone, Sabrina M., Topham, Kerri, Vincent, Dascena, Wang, Shunguang, Zimmer, Andrew R., Birren, Bruce W., Hood, Leroy, Lander, Eric S., and Nusbaum, Chad

Subjects
Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Author(s): Michael C. Zody (corresponding author) [1]; Manuel Garber [1]; Ted Sharpe [1]; Sarah K. Young [1]; Lee Rowen [2]; Keith O'Neill [1]; Charles A. Whittaker [1, 6]; Michael Kamal [...]

Published
2006
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4. Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication

Author

Linardopoulou, Elena V., Williams, Eleanor M., Fan, Yuxin, Friedman, Cynthia, Young, Janet M., and Trask, Barbara J.

Subjects
Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Author(s): Elena V. Linardopoulou [1, 2]; Eleanor M. Williams [1]; Yuxin Fan [1, 4]; Cynthia Friedman [1]; Janet M. Young [1]; Barbara J. Trask (corresponding author) [1, 2, 3] The [...]

Published
2005
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5. The DNA sequence and analysis of human chromosome 14

Author

Heilig, Roland, Eckenberg, Ralph, Petit, Jean-Louis, Fonknechten, Nuria, Da Silva, Corinne, Cattolico, Laurence, Levy, Michael, Barbe, Valerie, de Berardinis, Veronique, Ureta-Vidal, Abel, Pelletier, Eric, Vico, Virginie, Anthouard, Veronique, Rowen, Lee, Madan, Anup, Qin, Shizhen, Sun, Hui, Du, Hui, Pepin, Kymberlie, Artiguenave, Francois, Robert, Catherine, Cruaud, Corinne, Bruls, Thomas, Jaillon, Olivier, Friedlander, Lucie, Samson, Gaelle, Brottier, Philippe, Cure, Susan, Segurens, Beatrice, Aniere, Franck, Samain, Sylvie, Crespeau, Herve, Abbasi, Nissa, Aiach, Nathalie, Boscus, Didier, Dickhoff, Rachel, Dors, Monica, Dubois, Ivan, Friedman, Cynthia, Gouyvenoux, Michel, James, Rose, Madan, Anuradha, Mairey-Estrada, Barbara, Mangenot, Sophie, Martins, Nathalie, Menard, Manuela, Oztas, Sophie, Ratcliffe, Amber, Shaffer, Tristan, Trask, Barbara, Vacherie, Benoit, Bellemere, Chadia, Belser, Caroline, Besnard-Gonnet, Marielle, Bartol-Mavel, Delphine, Boutard, Magali, Briez-Silla, Stephanie, Combette, Stephane, Dufosse-Laurent, Virginie, Ferron, Carolyne, Lechaplais, Christophe, Louesse, Claudine, Muselet, Delphine, Magdelenat, Ghislaine, Pateau, Emilie, Petit, Emmanuelle, Sirvain-Trukniewicz, Peggy, Trybou, Arnaud, Vega-Czarny, Nathalie, Bataille, Elodie, Bluet, Elodie, Bordelais, Isabelle, Dubois, Maria, Dumont, Corinne, Guerin, Thomas, Haffray, Sebastien, Hammadi, Rachid, Muanga, Jacqueline, Pellouin, Virginie, Robert, Dominique, Wunderle, Edith, Gauguet, Gilbert, Roy, Alice, Sainte-Marthe, Laurent, Verdier, Jean, Verdier-Discala, Claude, Hillier, LaDeana, Fulton, Lucinda, McPherson, John, Matsuda, Fumihiko, Wilson, Richard, Scarpelli, Claude, Gyapay, Gabor, Wincker, Patrick, Saurin, William, Quetier, Francis, Waterston, Robert, Hood, Leroy, and Weissenbach, Jean

Subjects
Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Author(s): Roland Heilig (corresponding author) [1, 2]; Ralph Eckenberg [1, 2]; Jean-Louis Petit [1, 2]; Núria Fonknechten [1, 2]; Corinne Da Silva [1, 2]; Laurence Cattolico [1]; Michaël Levy [1]; [...]

Published
2003
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6. A physical map of the human genome

Author

McPherson, John D., Marra, Marco, Hillier, LaDeana, Waterston, Robert H., Chinwalla, Asif, Wallis, John, Sekhon, Mandeep, Wylie, Kristine, Mardis, Elaine R., Wilson, Richard K., Fulton, Robert, Kucaba, Tamara A., Wagner-McPherson, Caryn, Barbazuk, William B., Gregory, Simon G., Humphray, Sean J., French, Lisa, Evans, Richard S., Bethel, Graeme, Whittaker, Adam, Holden, Jane L., McCann, Owen T., Dunham, Andrew, Soderlund, Carol, Scott, Carol E., Bentley, David R., Schuler, Gregory, Chen, Hsiu-Chuan, Jang, Wonhee, Green, Eric D., Idol, Jacquelyn R., Maduro, Valerie V. Braden, Montgomery, Kate T., Lee, Eunice, Miller, Ashley, Emerling, Suzanne, Kucherlapati, Raju, Gibbs, Richard, Scherer, Steve, Gorrell, J. Harley, Sodergren, Erica, Clerc-Blankenburg, Kerstin, Tabor, Paul, Naylor, Susan, Garcia, Dawn, de Jong, Pieter J., Catanese, Joseph J., Nowak, Norma, Osoegawa, Kazutoyo, Qin, Shizhen, Rowen, Lee, Madan, Anuradha, Dors, Monica, Hood, Leroy, Trask, Barbara, Friedman, Cynthia, Massa, Hillary, Cheung, Vivian G., Kirsch, Ilan R., Reid, Thomas, Yonescu, Raluca, Weissenbach, Jean, Bruls, Thomas, Heilig, Roland, Branscomb, Elbert, Olsen, Anne, Doggett, Norman, Cheng, Jan-Fang, Hawkins, Trevor, Myers, Richard M., Shang, Jin, Ramirez, Lucia, Schmutz, Jeremy, Velasquez, Olivia, Dixon, Kami, Stone, Nancy E., Cox, David R., Haussler, David, Kent, W. James, Furey, Terrence, Rogic, Sanja, Kennedy, Scot, Jones, Steven, Rosenthal, Andre, Wen, Gaiping, Schilhabel, Markus, Gloeckner, Gernot, Nyakatura, Gerald, Siebert, Reiner, Schlegelberger, Brigitte, Korenberg, Julie, Chen, Xiao-Ning, Fujiyama, Asao, Hattori, Masahira, Toyoda, Atsushi, Yada, Tetsushi, Park, Hong-Seok, Sakaki, Yoshiyuki, Shimizu, Nobuyoshi, Asakawa, Shuichi, Kawasaki, Kazuhiko, Sasaki, Takashi, Shintani, Ai, Shimizu, Atsushi, Shibuya, Kazunori, Kudoh, Jun, Minoshima, Shinsei, Ramser, Juliane, Seranski, Peter, Hoff, Celine, Poustka, Annemarie, Reinhardt, Richard, and Lehrach, Hans

Subjects
Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Author(s): The International Human Genome Mapping Consortium ; Washington University School of Medicine, Genome Sequencing Center: ; John D. McPherson (corresponding author) [1]; Marco Marra [1]; LaDeana Hillier [1]; Robert [...]

Published
2001
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7. Chimpanzee and Human Y Chromosomes Are Remarkably Divergent in Structure and Gene Content

Author

Massachusetts Institute of Technology. Department of Biology, Whitehead Institute for Biomedical Research, Page, David C., Hughes, Jennifer F., Skaletsky, Helen, Pyntikova, Tatyana, Rozen, Steve, Graves, Tina, van Daalen, Saskia K. M., Minx, Patrick J., Fulton, Robert S., McGrath, Sean D., Locke, Devin P., Friedman, Cynthia, Trask, Barbara J., Mardis, Elaine R., Warren, Wesley C., Repping, Sjoerd, Wilson, Richard K., Page, David C, Massachusetts Institute of Technology. Department of Biology, Whitehead Institute for Biomedical Research, Page, David C., Hughes, Jennifer F., Skaletsky, Helen, Pyntikova, Tatyana, Rozen, Steve, Graves, Tina, van Daalen, Saskia K. M., Minx, Patrick J., Fulton, Robert S., McGrath, Sean D., Locke, Devin P., Friedman, Cynthia, Trask, Barbara J., Mardis, Elaine R., Warren, Wesley C., Repping, Sjoerd, Wilson, Richard K., and Page, David C

Abstract

Letter, The human Y chromosome began to evolve from an autosome hundreds of millions of years ago, acquiring a sex-determining function and undergoing a series of inversions that suppressed crossing over with the X chromosome[1, 2]. Little is known about the recent evolution of the Y chromosome because only the human Y chromosome has been fully sequenced. Prevailing theories hold that Y chromosomes evolve by gene loss, the pace of which slows over time, eventually leading to a paucity of genes, and stasis [3, 4]. These theories have been buttressed by partial sequence data from newly emergent plant and animal Y chromosomes [5, 6, 7, 8], but they have not been tested in older, highly evolved Y chromosomes such as that of humans. Here we finished sequencing of the male-specific region of the Y chromosome (MSY) in our closest living relative, the chimpanzee, achieving levels of accuracy and completion previously reached for the human MSY. By comparing the MSYs of the two species we show that they differ radically in sequence structure and gene content, indicating rapid evolution during the past 6 million years. The chimpanzee MSY contains twice as many massive palindromes as the human MSY, yet it has lost large fractions of the MSY protein-coding genes and gene families present in the last common ancestor. We suggest that the extraordinary divergence of the chimpanzee and human MSYs was driven by four synergistic factors: the prominent role of the MSY in sperm production, ‘genetic hitchhiking’ effects in the absence of meiotic crossing over, frequent ectopic recombination within the MSY, and species differences in mating behaviour. Although genetic decay may be the principal dynamic in the evolution of newly emergent Y chromosomes, wholesale renovation is the paramount theme in the continuing evolution of chimpanzee, human and perhaps other older MSYs., National Institutes of Health (U.S.), Howard Hughes Medical Institute

Published
2010

8. Publisher Correction: The DNA sequence and analysis of human chromosome 14.

Author

Heilig R, Eckenberg R, Petit JL, Fonknechten N, Da Silva C, Cattolico L, Levy M, Barbe V, de Berardinis V, Ureta-Vidal A, Pelletier E, Vico V, Anthouard V, Rowen L, Madan A, Qin S, Sun H, Du H, Pepin K, Artiguenave F, Robert C, Cruaud C, Brüls T, Jaillon O, Friedlander L, Samson G, Brottier P, Cure S, Ségurens B, Anière F, Samain S, Crespeau H, Abbasi N, Aiach N, Boscus D, Dickhoff R, Dors M, Dubois I, Friedman C, Gouyvenoux M, James R, Madan A, Mairey-Estrada B, Mangenot S, Martins N, Ménard M, Oztas S, Ratcliffe A, Shaffer T, Trask B, Vacherie B, Bellemere C, Belser C, Besnard-Gonnet M, Bartol-Mavel D, Boutard M, Briez-Silla S, Combette S, Dufossé-Laurent V, Ferron C, Lechaplais C, Louesse C, Muselet D, Magdelenat G, Pateau E, Petit E, Sirvain-Trukniewicz P, Trybou A, Vega-Czarny N, Bataille E, Bluet E, Bordelais I, Dubois M, Dumont C, Guérin T, Haffray S, Hammadi R, Muanga J, Pellouin V, Robert D, Wunderle E, Gauguet G, Roy A, Sainte-Marthe L, Verdier J, Verdier-Discala C, Hillier L, Fulton L, McPherson J, Matsuda F, Wilson R, Scarpelli C, Gyapay G, Wincker P, Saurin W, Quétier F, Waterston R, Hood L, and Weissenbach J

Published
2023
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