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328 results on '"Lander, E. S."'

5. Genome Maps 7: The Human Transcript Map

Author

Jasny, Barbara R., Schuler, G. D., Boguski, M. S., Hudson, T. J., Hui, L., Ma, J., Castle, A. B., Wu, X., Silva, J., Nusbaum, H. C., Birren, B. B., Slonim, D. K., Rozen, S., Stein, L. D., Page, D., Lander, E. S., Stewart, E. A., Aggarwal, A., Bajorek, E., Brady, S., Chu, A., Fang, N., Hadley, D., Harris, M., Hussain, S., Maratukulam, A., Perkins, S., Piercy, M., Qin, F., Reif, T., Sanders, C., She, X., Sun, W. L., Tabar, P., Voyticky, S., Mader, C., McKusick, K. B., Fan, J. B., Cowles, S., Quackenbush, J., Vollrath, D., Myers, R. M., Cox, D. R., Butler, A., Clee, C., Dibling, T., East, C., Edwards, C., Garrett, C., Green, L., Harrison, P., Hicks, A., Holloway, E., Ranby, S., MacGilvery, A., Mungall, A., Peck, A., Wilmer, T., Soderlund, C., Rice, K., Dunham, I., Bentley, D., Deloukas, P., Gyapay, G., Chiannilkulchai, N., Fizames, C., Bentolila, S., Duprat, S., Vega-Czarny, N., Muselet, D., Drouot, N., Morissette, J., Beckmann, J., Weissenbach., J., James, M. R., White, R. E., Thangarajah, T., Day, P. J. R., Goodfellow, P. N., Schmitt, K., Walter, N. A. R., Berry, R., Iorio, K. R., Sikela, J. M., Polymeropoulos, M. H., Torres, R., Ide, S. S. E., Dehejia, A., Houlgatte, R., Auffray, C., Adams, M. D., Phillips, C., Brandon, R., Sandusky, M., Venter, J. C., Seki, N., Nagase, T., Ishikawa, K., Nomura, N., Rodriguez-Tome, P., Matise, T. C., Lee, W. Y., Swanson, K. A., and Hudson, J. R.

Published
1996

6. A Gene Map of the Human Genome

Author

Schuler, G. D., Boguski, M. S., Stewart, E. A., Stein, L. D., Gyapay, G., Rice, K., White, R. E., Rodriguez-Tomé, P., Aggarwal, A., Bajorek, E., Bentolila, S., Birren, B. B., Butler, A., Castle, A. B., Chiannilkulchai, N., Chu, A., Clee, C., Cowles, S., Day, P. J. R., Dibling, T., Drouot, N., Dunham, I., Duprat, S., East, C., Edwards, C., Fang, N., Fizames, C., Garrett, C., Green, L., Hadley, D., Harris, M., Harrison, P., Brady, S., Hicks, A., Holloway, E., Hui, L., Hussain, S., Ma, J., MacGilvery, A., Mader, C., Maratukulam, A., Matise, T. C., McKusick, K. B., Morissette, J., Mungall, A., Muselet, D., Nusbaum, H. C., Page, D. C., Peck, A., Perkins, S., Piercy, M., Qin, F., Quackenbush, J., Ranby, S., Reif, T., Rozen, S., Sanders, C., She, X., Silva, J., Slonim, D. K., Soderlund, C., Tabar, P., Thangarajah, T., Vega-Czarny, N., Vollrath, D., Voyticky, S., Wilmer, T., Wu, X., Adams, M. D., Aufiray, C., Walter, N. A. R., Brandon, R., Dehejia, A., Goodfellow, P. N., Houlgatte, R., Hudson, J. R., Ide, S. E., Iorio, K. R., Lee, W. Y., Seki, N., Nagase, T., Ishikawa, K., Nomura, N., Phillips, C., Polymeropoulos, M. H., Sandusky, M., Schmitt, K., Berry, R., Swanson, K., Torres, R., Venter, J. C., Sikela, J. M., Beckmann, J. S., Weissenbach, J., Myers, R. M., Cox, D. R., James, M. R., Bentley, D., Deloukas, P., Lander, E. S., and Hudson, T. J.

Published
1996

7. A Physical Map of 30,000 Human Genes

Author

Deloukas, P., Schuler, G. D., Gyapay, G., Beasley, E. M., Soderlund, C., Rodriguez-Tomé, P., Hui, L., Matise, T. C., McKusick, K. B., Beckmann, J. S., Bentolila, S., Birren, B. B., Browne, J., Butler, A., Castle, A. B., Chiannilkulchai, N., Clee, C., Day, P. J. R., Dehejia, A., Dibling, T., Drouot, N., Duprat, S., Fizames, C., Fox, S., Gelling, S., Green, L., Harrison, P., Hocking, R., Holloway, E., Hunt, S., Keil, S., Lijnzaad, P., Ma, J., Mendis, A., Miller, J., Morissette, J., Muselet, D., Nusbaum, H. C., Peck, A., Rozen, S., Simon, D., Slonim, D. K., Staples, R., Stein, L. D., Stewart, E. A., Suchard, M. A., Thangarajah, T., Vega-Czarny, N., Webber, C., Wu, X., Hudson, J., Auffray, C., Nomura, N., Sikela, J. M., Polymeropoulous, M. H., James, M. R., Lander, E. S., Hudson, T. J., Myers, R. M., Cox, D. R., Weissenbach, J., Boguski, M. S., and Bentley, D. R.

Published
1998

9. Genome Sequence, Comparative Analysis, and Population Genetics of the Domestic Horse

Author

Broad Institute Genome Sequencing Platform, Broad Institute Whole Genome Assembly Team, Wade, C. M., Giulotto, E., Sigurdsson, S., Zoli, M., Gnerre, S., Imsland, F., Lear, T. L., Adelson, D. L., Bailey, E., Bellone, R. R., Blöcker, H., Distl, O., Edgar, R. C., Garber, M., Leeb, T., Mauceli, E., MacLeod, J. N., Penedo, M. C. T., Raison, J. M., Sharpe, T., Vogel, J., Andersson, L., Antczak, D. F., Biagi, T., Binns, M. M., Chowdhary, B. P., Coleman, S. J., Valle, G. Delia, Fryc, S., Guérin, G., Hasegawa, T., Hill, E. W., Jurka, J., Kiialainen, A., Lindgren, G., Liu, J., Magnani, E., Mickelson, J. R., Murray, J., Nergadze, S. G., Onofrio, R., Pedroni, S., Piras, M. F., Raudsepp, T., Rocchi, M., Røed, K. H., Ryder, O. A., Searle, S., Skow, L., Swinburne, J. E., Syvänen, A. C., Tozaki, T., Valberg, S. J., Vaudin, M., White, J. R., Zody, M. C., Lander, E. S., and Lindblad-Toh, K.

Published
2009
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12. Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

Author

BIS, J. C., JIAN, X., KUNKLE, B. W., CHEN, Y., HAMILTON-NELSON, K. L., BUSH, W. S., SALERNO, W. J., LANCOUR, D., MA, Y., RENTON, A. E., MARCORA, E., FARRELL, J. J., ZHAO, Y., QU, L., AHMAD, S., AMIN, N., AMOUYEL, P., BEECHAM, G. W., BELOW, J. E., CAMPION, D., CANTWELL, L., CHARBONNIER, C., CHUNG, J., CRANE, P. K., CRUCHAGA, C., CUPPLES, L. A., DARTIGUES, Jean-Francois, DEBETTE, Stéphanie, DELEUZE, J. F., FULTON, L., GABRIEL, S. B., GENIN, E., GIBBS, R. A., GOATE, A., GRENIER-BOLEY, B., GUPTA, N., HAINES, J. L., HAVULINNA, A. S., HELISALMI, S., HILTUNEN, M., HOWRIGAN, D. P., IKRAM, M. A., KAPRIO, J., KONRAD, J., KUZMA, A., LANDER, E. S., LATHROP, M., LEHTIMAKI, T., LIN, H., MATTILA, K., MAYEUX, R., MUZNY, D. M., NASSER, W., NEALE, B., NHO, K., NICOLAS, G., PATEL, D., PERICAK-VANCE, M. A., PEROLA, M., PSATY, B. M., QUENEZ, O., RAJABLI, F., REDON, R., REITZ, C., REMES, A. M., SALOMAA, V., SARNOWSKI, C., SCHMIDT, H., SCHMIDT, M., SCHMIDT, R., SOININEN, H., THORNTON, T. A., TOSTO, G., TZOURIO, Christophe, VAN DER LEE, S. J., VAN DUIJN, C. M., VALLADARES, O., VARDARAJAN, B., WANG, L. S., WANG, W., WIJSMAN, E., WILSON, R. K., WITTEN, D., WORLEY, K. C., ZHANG, X., BELLENGUEZ, C., LAMBERT, J. C., KURKI, M. I., PALOTIE, A., DALY, M., BOERWINKLE, E., LUNETTA, K. L., DESTEFANO, A. L., DUPUIS, J., MARTIN, E. R., SCHELLENBERG, G. D., SESHADRI, S., NAJ, A. C., FORNAGE, M., and FARRER, L. A.

Subjects
0301 basic medicine, Computational biology, Biology, SEPIA, 03 medical and health sciences, Cellular and Molecular Neuroscience, Psychiatry and Mental health, 030104 developmental biology, 0302 clinical medicine, Immune system, VINTAGE, Transcriptional regulation, HEALTHY, Molecular Biology, 030217 neurology & neurosurgery, Exome sequencing
Abstract

Following publication, the authors noticed that ‘Laura Cantwell’, ‘Otto Valladares’, and ‘Li-San Wang’ were inadvertently omitted from the author list. These authors have now been added to the author list in 21st, 77th, and 79th position, respectively. This has been corrected in both the PDF and HTML versions of the article.

Published
2020

14. Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs

Author

Okazaki, Y., Furuno, M., Kasukawa, T., Adachi, J., Bono, H., Kondo, S., Nikaido, I., Osato, N., Saito, R., Suzuki, H., Yamanaka, I., Kiyosawa, H., Yagi, K., Tomaru, Y., Hasegawa, Y., Nogami, A., Schonbach, C., Gojobori, T., Baldarelli, R., Hill, D. P., Bult, C., Hume, D. A., Quackenbush, J., Schriml, L. M., Kanapin, A., Matsuda, H., Batalov, S., Beisel, K. W., Blake, J. A., Bradt, D., Brusic, V., Chothia, C., Corbani, L. E., Cousins, S., Dalla, E., Dragani, T. A., Fletcher, C. F., Forrest, A., Frazer, K. S., Gaasterland, T., Gariboldi, M., Gissi, C., Godzik, A., Gough, J., Grimmond, S., Gustincich, S., Hirokawa, N., Jackson, I. J., Jarvis, E. D., Kanai, A., Kawaji, H., Kawasawa, Y., Kedzierski, R. M., King, B. L., Konagaya, A., Kurochkin, I. V., Lee, Y., Lenhard, B., Lyons, P. A., Maglott, D. R., Maltais, L., Marchionni, L., McKenzie, L., Miki, H., Nagashima, T., Numata, K., Okido, T., Pavan, W. J., Pertea, G., Pesole, G., Petrovsky, N., Pillai, R., Pontius, J. U., Qi, D., Ramachandran, S., Ravasi, T., Reed, J. C., Reed, D. J., Reid, J., Ring, B. Z., Ringwald, M., Sandelin, A., Schneider, C., Semple, C. A. M., Setou, M., Shimada, K., Sultana, R., Takenaka, Y., Taylor, M. S., Teasdale, R. D., Tomita, M., Verardo, R., Wagner, L., Wahlestedt, C., Wang, Y., Watanabe, Y., Wells, C., Wilming, L. G., Wynshaw-Boris, A., Yanagisawa, M., Yang, I., Yang, L., Yuan, Z., Zavolan, M., Zhu, Y., Zimmer, A., Carninci, P., Hayatsu, N., Hirozane-Kishikawa, T., Konno, H., Nakamura, M., Sakazume, N., Sato, K., Shiraki, T., Waki, K., Kawai, J., Aizawa, K., Arakawa, T., Fukuda, S., Hara, A., Hashizume, W., Imotani, K., Ishii, Y., Itoh, M., Kagawa, I., Miyazaki, A., Sakai, K., Sasaki, D., Shibata, K., Shinagawa, A., Yasunishi, A., Yoshino, M., Waterston, R., Lander, E. S., Rogers, J., Birney, E., and Hayashizaki, Y.

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

Author(s): The FANTOM Consortium and the RIKEN Genome Exploration Research Group Phase I & II Team*; FANTOM Consortium:; Y. Okazaki [1, 2]; M. Furuno [1]; T. Kasukawa [1, 3]; J. [...]

Published
2002
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16. Integrated genomic analyses of ovarian carcinoma

Author

Bell, D., Berchuck, A., Birrer, M., Chien, J., Cramer, D. W., Dao, F., Dhir, R., DiSaia, P., Gabra, H., Glenn, P., Godwin, A. K., Gross, J., Hartmann, L., Huang, M., Huntsman, D. G., Iacocca, M., Imielinski, M., Kalloger, S., Karlan, B. Y., Morrison, C., Mutch, D., Olvera, N., Orsulic, S., Park, K., Petrelli, N., Rabeno, B., Rader, J. S., Sikic, B. I., Smith-McCune, K., Sood, A. K., Bowtell, D., Testa, J. R., Chang, K., Dinh, H. H., Drummond, J. A., Fowler, G., Gunaratne, P., Hawes, A. C., Kovar, C. L., Lewis, L. R., Morgan, M. B., Newsham, I. F., Santibanez, J., Reid, J. G., Trevino, L. R., Wu, Y.-Q., Wang, M., Muzny, D. M., Wheeler, D. A., Gibbs, R. A., Sivachenko, A. Y., Sougnez, C., Wilkinson, J., Bloom, T., Fennell, T., Baldwin, J., Gabriel, S., Lander, E. S., Ding, L., Fulton, R. S., Koboldt, D. C., McLellan, M. D., Wylie, T., Walker, J., O’Laughlin, M., Dooling, D. J., Fulton, L., Abbott, R., Dees, N. D., Zhang, Q., Kandoth, C., Wendl, M., Schierding, W., Shen, D., Harris, C. C., Schmidt, H., Kalicki, J., Delehaunty, K. D., Fronick, C. C., Demeter, R., Cook, L., Wallis, J. W., Lin, L., Magrini, V. J., Hodges, J. S., Eldred, J. M., Smith, S. M., Pohl, C. S., Vandin, F., Raphael, B. J., Weinstock, G. M., Mardis, E. R., Wilson, R. K., Meyerson, M., Winckler, W., Verhaak, R. G. W., Carter, S. L., Mermel, C. H., Nguyen, H., Onofrio, R. C., Hubbard, D., Gupta, S., Crenshaw, A., Ramos, A. H., Protopopov, A., Zhang, Juinhua, Kim, T. M., Perna, I., Xiao, Y., Ren, G., Sathiamoorthy, N., Lee, E., Park, P. J., Kucherlapati, R., Absher, D. M., Waite, L., Sherlock, G., Brooks, J. D., Li, J. Z., Xu, J., Myers, R. M., Laird, P. W., Cope, L., Herman, J. G., Shen, H., Weisenberger, D. J., Noushmehr, H., Pan, F., Triche, T., Jr, Berman, B. P., Van Den Berg, D. J., Buckley, J., Baylin, S. B., Jakkula, L. R., Dorton, S., Marr, H., Choi, Y. G., Wang, V., Wang, N. J., Ngai, J., Conboy, J. G., Feiler, H. S., Socci, N. D., Liang, Y., Lash, A. E., Brennan, C., Viale, A., Meng, S., Shi, Y., Li, L., Turman, Y. J., Zang, D., Helms, E. B., Zhou, X., Wu, J., Topal, M. D., Zhang, Junihua, Wu, C. J., Shukla, S., Sivachenko, A., Jing, R., Liu, Y., Noble, M., Carter, H., Kim, D., Karchin, R., Korkola, J. E., Heiser, L. M., Cho, R. J., Hu, Z., Parvin, B., Cerami, E., Olshen, A., Reva, B., Antipin, Y., Shen, R., Mankoo, P., Sheridan, R., Ciriello, G., Chang, W. K., Bernanke, J. A., Haussler, D., Benz, C. C., Stuart, J. M., Benz, S. C., Sanborn, J. Z., Vaske, C. J., Zhu, J., Szeto, C., Scott, G. K., Yau, C., Wilkerson, M. D., Zhang, N., Akbani, R., Baggerly, K. A., Yung, W. K., Weinstein, J. N., Shelton, T., Grimm, D., Hatfield, M., Morris, S., Yena, P., Rhodes, P., Sherman, M., Paulauskis, J., Millis, S., Kahn, A., Greene, J. M., Sfeir, R., Jensen, M. A., Chen, J., Whitmore, J., Alonso, S., Jordan, J., Chu, A., Zhang, Jinghui, Barker, A., Compton, C., Eley, G., Ferguson, M., Fielding, P., Gerhard, D. S., Myles, R., Schaefer, C., Mills Shaw, K. R., Vaught, J., Vockley, J. B., Good, P. J., Guyer, M. S., Ozenberger, B., Peterson, J., and Thomson, E.

Published
2011
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18. Genome Sequence, Comparative Analysis, and Population Genetics of the Domestic Horse

Author

Wade, C. M., Giulotto, E., Sigurdsson, S., Zoti, M., Gnerre, S., Imsland, F., Lear, T. L., Adelson, D. L., Bailey, E., Bellone, R. R., Blocker, H., Distl, O., Edgar, R. C., Garber, M., Leeb, T., Mauceli, E., MacLeod, J. N., T. Penedo, M. C., Raison, J. M., Sharpe, T., Vogel, J., Andersson, L., Antczak, D. F., Biagi, T., Binns, M. M., Chowdhary, B. P., Coleman, S. J., Valle, Delia G., Fryc, S., Guérin, G., Hasegawa, T., Hill, E. W., Jurka, J., Kiialainen, A., Lindgren, G., Liu, J., Magnani, E., Mickelson, J. R., Murray, J., Nergadze, S. G., Onofrio, R., Pedroni, S., Piras, M. F., Raudsepp, T., Rocchi, M., Reed, K. H., Ryder, O. A., Searle, S., Skow, L., Swinburne, J. E., Syvanen, A. C., Tozaki, T., Valberg, S. J., Vaudin, M., White, J. R., Zody, M. C., Lander, E. S., and Lindblad-Toh, K.

Published
2009

24. Quantitative trait locus mapping of airway responsiveness to chromosomes 6 and 7 in inbred mice

Author

DE SANCTIS, G. T., SINGER, J. B., JIAO, A., YANDAVA, C. N., LEE, Y. H., HAYNES, T. C., LANDER, E. S., BEIER, D. R., and DRAZEN, J. M.

Subjects
Chromosomes -- Research, Asthma -- Causes of, Methacholine -- Research, Phenotype -- Analysis, Biological sciences
Abstract

De Sanctis, G. T., J. B. Singer, A. Jiao, C. N. Yandava, Y. H. Lee, T. C. Haynes, E. S. Lander, D. R. Beier, and J. M. Drazen. Quantitative trait locus mapping of airway responsiveness to chromosomes 6 and 7 in inbred mice. Am. J. Physiol. 277 (Lung Cell. Mol. Physiol. 21): L1118-L1123, 1999.--Quantitative trait locus (QTL) mapping was used to identify chromosomal regions contributing to airway hyperresponsiveness in mice. Airway responsiveness to methacholine was measured in A/J and C3H/HeJ parental strains as well as in progeny derived from crosses between these strains. QTL mapping of backcross [(A/J X C3H/HeJ) X C3H/HeJ] progeny (n = 137-227 informative mice for markers tested) revealed two significant linkages to loci on chromosomes 6 and 7. The QTL on chromosome 6 confirms the previous report by others of a linkage in this region in the same genetic backgrounds; the second QTL, on chromosome 7, represents a novel locus. In addition, we obtained suggestive evidence for linkage (logarithm of odds ratio = 1.7) on chromosome 17, which lies in the same region previously identified in a cross between A/J and C57BL/6J mice. Airway responsiveness in a cross between A/J and C3H/HeJ mice is under the control of at least two major genetic loci, with evidence for a third locus that has been previously implicated in an A/J and C57BL/6J cross; this indicates that multiple genetic factors control the expression of this phenotype. asthma; methacholine; A/J mice; C3H/HeJ mice

Published
1999

25. Whole-genome sequencing reveals activation-induced cytidine deaminase signatures during indolent chronic lymphocytic leukaemia evolution

Author

Kasar, S., primary, Kim, J., additional, Improgo, R., additional, Tiao, G., additional, Polak, P., additional, Haradhvala, N., additional, Lawrence, M. S., additional, Kiezun, A., additional, Fernandes, S. M., additional, Bahl, S., additional, Sougnez, C., additional, Gabriel, S., additional, Lander, E. S., additional, Kim, H. T., additional, Getz, G., additional, and Brown, J. R., additional

Published
2015
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27. Reply to Guy et al.: Support for a bottleneck in the 2011 Escherichia coli O104:H4 outbreak in Germany

Author

Grad, Y. H., primary, Lipsitch, M., additional, Griggs, A. D., additional, Haas, B. J., additional, Shea, T. P., additional, McCowan, C., additional, Montmayeur, A., additional, FitzGerald, M., additional, Wortman, J. R., additional, Krogfelt, K. A., additional, Bingen, E., additional, Weill, F.-X., additional, Tietze, E., additional, Flieger, A., additional, Lander, E. S., additional, Nusbaum, C., additional, Birren, B. W., additional, Hung, D. T., additional, and Hanage, W. P., additional

Published
2012
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28. Genome maps 7. The human transcript map. Wall chart

Author

Schuler, G. D., Boguski, M. S., Hudson, T. J., Hui, L., Ma, J., Castle, A. B., Wu, X., Silva, J., Nusbaum, H. C., Birren, B. B., Slonim, D. K., Steven G. Rozen, Stein, L. D., Page, D., Lander, E. S., Stewart, E. A., Aggarwal, A., Bajorek, E., Brady, S., Chu, S., Fang, N., Hadley, D., Harris, M., Hussain, S., and Hudson Jr, J. R.

Subjects
Genetic Markers, DNA, Complementary, Genome, Human, Human Genome Project, Genetic Diseases, Inborn, Chromosome Mapping, Gene Expression, Humans, RNA, Messenger, Gene Library, Sequence Tagged Sites
Published
1996

29. A locus for Fanconi anemia on 16q determined by homozygosity mapping

Author

Gschwend, M., Levran, O., Kruglyak, L., Ranade, K., Verlander, P. C., Shen, S., Faure, S., Weissenbach, J., Altay, C., Lander, E. S., Arleen Auerbach, and Botstein, D.

Subjects
Genetic Markers, Genotype, Genome, Human, Homozygote, Chromosome Mapping, Pedigree, Consanguinity, Fanconi Anemia, Gene Frequency, Humans, Genetic Testing, Lod Score, Chromosomes, Human, Pair 16, Research Article
Abstract

We report the results of a genomewide scan using homozygosity mapping to identify genes causing Fanconi anemia, a genetically heterogeneous recessive disorder. By studying 23 inbred families, we detected linkage to a locus causing Fanconi anemia near marker D16S520 (16q24.3). Although -65% of our families displayed clear linkage to D16S520, we found strong evidence (P = .0013) of genetic heterogeneity. This result independently confirms the recent mapping of the FAA gene to chromosome 16 by Pronk et al. Family ascertainment was biased against a previously identified FAC gene on chromosome 9, and no linkage was observed to this locus. Simultaneous search analysis suggested several additional chromosomal regions that could account for a small fraction of Fanconi anemia in our families, but the sample size is insufficient to provide statistical significance. We also demonstrate the strong effect of marker allele frequencies on LOD scores obtained in homozygosity mapping and discuss ways to avoid false positives arising from this effect.

Published
1996

31. Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias

Author

Hästbacka, J., Superti-Furga, A., Wilcox, W. R., Rimoin, D. L., Cohn, D. H., and Lander, E. S.

Subjects
Heterozygote, Base Sequence, Sulfates, Anion Transport Proteins, Molecular Sequence Data, Infant, Newborn, Gene Expression, Membrane Transport Proteins, Biological Transport, Fibroblasts, Osteochondrodysplasias, Bone and Bones, Osteogenesis, Sulfate Transporters, Humans, Point Mutation, Proteoglycans, Cloning, Molecular, Carrier Proteins, Sequence Analysis, Research Article, Sequence Deletion
Abstract

Atelosteogenesis type II (AO II) is a neonatally lethal chondrodysplasia whose clinical and histological characteristics resemble those of another chondrodysplasia, the much less severe diastrophic dysplasia (DTD). The similarity suggests a shared pathogenesis involving lesions in the same biochemical pathway and perhaps the same gene. DTD is caused by mutations in the recently identified diastrophic dysplasia sulfate-transporter gene (DTDST). Here, we report that AOII patients also have DTDST mutations, which lead to defective uptake of inorganic sulfate and insufficient sulfation of macromolecules by patient mesenchymal cells in vitro. Together with our recent observation that a third even more severe chondrodysplasia, achondrogenesis type IB, is also caused by mutations in DTDST, these results demonstrate a phenotypic series of three chondrodysplasias of increasing severity caused by lesions in a single sulfate-transporter gene. The severity of the phenotype appears to be correlated with the predicted effect of the mutations on the residual activity of the DTDST protein.

Published
1996

32. Complete multipoint sib-pair analysis of qualitative and quantitative traits

Author

Kruglyak, L and Lander, E S

Subjects
Genetic Markers, Heterozygote, Diabetes Mellitus, Type 1, Models, Statistical, Letter, Models, Genetic, Genetic Linkage, Genetic Diseases, Inborn, Chromosome Mapping, Humans, Software, Research Article
Abstract

Sib-pair analysis is an increasingly important tool for genetic dissection of complex traits. Current methods for sib-pair analysis are primarily based on studying individual genetic markers one at a time and thus fail to use the full inheritance information provided by multipoint linkage analysis. In this paper, we describe how to extract the complete multipoint inheritance information for each sib pair. We then describe methods that use this information to map loci affecting traits, thereby providing a unified approach to both qualitative and quantitative traits. Specifically, complete multipoint approaches are presented for (1) exclusion mapping of qualitative traits; (2) maximum-likelihood mapping of qualitative traits; (3) information-content mapping, showing the extent to which all inheritance information has been extracted at each location in the genome; and (4) quantitative-trait mapping, by two parametric methods and one nonparametric method. In addition, we explore the effects of marker density, marker polymorphism, and availability of parents on the information content of a study. We have implemented the analysis methods in a new computer package, MAPMAKER/SIBS. With this computer package, complete multipoint analysis with dozens of markers in hundreds of sib pairs can be carried out in minutes.

Published
1995

33. cDNA Sequences for Transcription Factors and Signaling Proteins of the HemichordateSaccoglossus kowalevskii: Efficacy of the Expressed Sequence Tag (EST) Approach for Evolutionary and Developmental Studies of a New Organism

Author

Freeman, R. M., primary, Wu, M., additional, Cordonnier-Pratt, M-M., additional, Pratt, L. H., additional, Gruber, C. E., additional, Smith, M., additional, Lander, E. S., additional, Stange-Thomann, N., additional, Lowe, C. J., additional, Gerhart, J., additional, and Kirschner, M., additional

Published
2008
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