A Chromosome 21 Critical Region Does Not Cause Specific Down Syndrome Phenotypes
作者： Lisa E Olson , Joan T Richtsmeier , J Leszl , Roger H Reeves
关键词:
摘要: The “Down syndrome critical region” (DSCR) is a chromosome 21 segment purported to contain genes responsible for many features of Down (DS), including craniofacial dysmorphology. We used engineering create mice that were trisomic or monosomic only the mouse orthologous DSCR and assessed dysmorphologies skeleton show direct parallels with DS in larger segmental trisomy. not sufficient largely necessary produce facial phenotype. These results refute specific predictions prevailing hypothesis gene action DS.
sciencemag.org
harvard.edu
redlands.edu
elsevier.com
unirioja.es参考文章(15)
Jean-Maurice Delabar, Didier Theophile, Zohra Rahmani, Zoubida Chettouh, Jean-Louis Blouin, Marguerite Prieur, Bernard Noel, Pierre-Marie Sinet, Molecular mapping of twenty-four features of Down syndrome on chromosome 21. European Journal of Human Genetics. ,vol. 1, pp. 114- 124 ,(1993) , 10.1159/000472398
Ramlro Ramirez-Solis, Pentao Liu, Allan Bradley, Chromosome engineering in mice Nature. ,vol. 378, pp. 720- 724 ,(1995) , 10.1038/378720A0
Erik Niebuhr, Down's syndrome. The possibility of a pathogenetic segment on chromosome no. 21. Human Genetics. ,vol. 21, pp. 99- 101 ,(1974) , 10.1007/BF00278575
Julie R Korenberg, XN Chen, R Schipper, Z Sun, R Gonsky, S Gerwehr, N Carpenter, C Daumer, P Dignan, C Disteche, None, Down syndrome phenotypes: the consequences of chromosomal imbalance Proceedings of the National Academy of Sciences of the United States of America. ,vol. 91, pp. 4997- 5001 ,(1994) , 10.1073/PNAS.91.11.4997
Joan T. Richtsmeier, Subhash R. Lele, An Invariant Approach to Statistical Analysis of Shapes ,(2001)
Mary Kay McCormick, Albert Schinzel, Michael B Petersen, Gail Stetten, Daniel J Driscoll, Eduardo S Cantu, Lisbeth Tranebjaerg, Margareta Mikkelsen, Paul C Watkins, Stylianos E Antonarakis, Molecular genetic approach to the characterization of the ?Down syndrome region? of chromosome 21 Genomics. ,vol. 5, pp. 325- 331 ,(1989) , 10.1016/0888-7543(89)90065-7
H. Sago, E. J. Carlson, D. J. Smith, J. Kilbridge, E. M. Rubin, W. C. Mobley, C. J. Epstein, T.-T. Huang, Ts1Cje, a partial trisomy 16 mouse model for Down syndrome, exhibits learning and behavioral abnormalities Proceedings of the National Academy of Sciences of the United States of America. ,vol. 95, pp. 6256- 6261 ,(1998) , 10.1073/PNAS.95.11.6256
Joan T. Richtsmeier, Laura L. Baxter, Roger H. Reeves, Parallels of Craniofacial Maldevelopment in Down Syndrome and Ts65Dn Mice Developmental Dynamics. ,vol. 217, pp. 137- 145 ,(2000) , 10.1002/(SICI)1097-0177(200002)217:2<137::AID-DVDY1>3.0.CO;2-N
Richard J Mural, Mark D Adams, Eugene W Myers, Hamilton O Smith, George L Gabor Miklos, Ron Wides, Aaron Halpern, Peter W Li, Granger G Sutton, Joe Nadeau, Steven L Salzberg, Robert A Holt, Chinnappa D Kodira, Fu Lu, Lin Chen, Zuoming Deng, Carlos C Evangelista, Weiniu Gan, Thomas J Heiman, Jiayin Li, Zhenya Li, Gennady V Merkulov, Natalia V Milshina, Ashwinikumar K Naik, Rong Qi, Bixiong Chris Shue, Aihui Wang, Jian Wang, Xin Wang, Xianghe Yan, Jane Ye, Shibu Yooseph, Qi Zhao, Liansheng Zheng, Shiaoping C Zhu, Kendra Biddick, Randall Bolanos, Arthur L Delcher, Ian M Dew, Daniel Fasulo, Michael J Flanigan, Daniel H Huson, Saul A Kravitz, Jason R Miller, Clark M Mobarry, Knut Reinert, Karin A Remington, Qing Zhang, Xiangqun H Zheng, Deborah R Nusskern, Zhongwu Lai, Yiding Lei, Wenyan Zhong, Alison Yao, Ping Guan, Rui-Ru Ji, Zhiping Gu, Zhen-Yuan Wang, Fei Zhong, Chunlin Xiao, Chia-Chien Chiang, Mark Yandell, Jennifer R Wortman, Peter G Amanatides, Suzanne L Hladun, Eric C Pratts, Jeffery E Johnson, Kristina L Dodson, Kerry J Woodford, Cheryl A Evans, Barry Gropman, Douglas B Rusch, Eli Venter, Mei Wang, Thomas J Smith, Jarrett T Houck, Donald E Tompkins, Charles Haynes, Debbie Jacob, Soo H Chin, David R Allen, Carl E Dahlke, Robert Sanders, Kelvin Li, Xiangjun Liu, Alexander A Levitsky, William H Majoros, Quan Chen, Ashley C Xia, John R Lopez, Michael T Donnelly, Matthew H Newman, Anna Glodek, Cheryl L Kraft, Marc Nodell, Feroze Ali, Hui-Jin An, Danita Baldwin-Pitts, Karen Y Beeson, Shuang Cai, Mark Carnes, Amy Carver, Parris M Caulk, Angela Center, Yen-Hui Chen, Ming-Lai Cheng, My D Coyne, Michelle Crowder, Steven Danaher, Lionel B Davenport, Raymond Desilets, Susanne M Dietz, Lisa Doup, Patrick Dullaghan, Steven Ferriera, Carl R Fosler, Harold C Gire, Andres Gluecksmann, Jeannine D Gocayne, Jonathan Gray, Brit Hart, Jason Haynes, Jeffery Hoover, Tim Howland, Chinyere Ibegwam, Mena Jalali, David Johns, Leslie Kline, Daniel S Ma, Steven MacCawley, Anand Magoon, Felecia Mann, David May, Tina C McIntosh, Somil Mehta, Linda Moy, Mee C Moy, Brian J Murphy, Sean D Murphy, Keith A Nelson, Zubeda Nuri, Kimberly A Parker, Alexandre C Prudhomme, Vinita N Puri, Hina Qureshi, John C Raley, Matthew S Reardon, Megan A Regier, Yu-Hui C Rogers, Deanna L Romblad, None, A Comparison of Whole-Genome Shotgun-Derived Mouse Chromosome 16 and the Human Genome Science. ,vol. 296, pp. 1661- 1671 ,(2002) , 10.1126/SCIENCE.1069193
Burton L. Shapiro, J. Hermann, J. M. Opitz, Down syndrome--a disruption of homeostasis. American Journal of Medical Genetics. ,vol. 14, pp. 241- 269 ,(1983) , 10.1002/AJMG.1320140206