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1. Directional dominance on stature and cognition in diverse human populations

Author

Joshi, Peter K., Esko, Tonu, Mattsson, Hannele, Eklund, Niina, Gandin, Ilaria, Nutile, Teresa, Jackson, Anne U., Schurmann, Claudia, Smith, Albert V., Zhang, Weihua, Okada, Yukinori, Stančáková, Alena, Faul, Jessica D., Zhao, Wei, Bartz, Traci M., Concas, Maria Pina, Franceschini, Nora, Enroth, Stefan, Vitart, Veronique, Trompet, Stella, Guo, Xiuqing, Chasman, Daniel I., OʼConnel, Jeffrey R., Corre, Tanguy, Nongmaithem, Suraj S., Chen, Yuning, Mangino, Massimo, Ruggiero, Daniela, Traglia, Michela, Farmaki, Aliki-Eleni, Kacprowski, Tim, Bjonnes, Andrew, van der Spek, Ashley, Wu, Ying, Giri, Anil K., Yanek, Lisa R., Wang, Lihua, Hofer, Edith, Rietveld, Cornelius A., McLeod, Olga, Cornelis, Marilyn C., Pattaro, Cristian, Verweij, Niek, Baumbach, Clemens, Abdellaoui, Abdel, Warren, Helen R., Vuckovic, Dragana, Mei, Hao, Bouchard, Claude, Perry, John R. B., Cappellani, Stefania, Mirza, Saira S., Benton, Miles C., Broeckel, Ulrich, Medland, Sarah E., Lind, Penelope A., Malerba, Giovanni, Drong, Alexander, Yengo, Loic, Bielak, Lawrence F., Zhi, Degui, van der Most, Peter J., Shriner, Daniel, Mägi, Reedik, Hemani, Gibran, Karaderi, Tugce, Wang, Zhaoming, Liu, Tian, Demuth, Ilja, Zhao, Jing Hua, Meng, Weihua, Lataniotis, Lazaros, van der Laan, Sander W., Bradfield, Jonathan P., Wood, Andrew R., Bonnefond, Amelie, Ahluwalia, Tarunveer S., Hall, Leanne M., Salvi, Erika, Yazar, Seyhan, Carstensen, Lisbeth, de Haan, Hugoline G., Abney, Mark, Afzal, Uzma, Allison, Matthew A., Amin, Najaf, Asselbergs, Folkert W., Bakker, Stephan J. L., Barr, Graham R., Baumeister, Sebastian E., Benjamin, Daniel J., Bergmann, Sven, Boerwinkle, Eric, Bottinger, Erwin P., Campbell, Archie, Chakravarti, Aravinda, Chan, Yingleong, Chanock, Stephen J., Chen, Constance, Chen, Ida Y.-D., Collins, Francis S., Connell, John, Correa, Adolfo, Cupples, Adrienne L., Smith, George Davey, Davies, Gail, Dörr, Marcus, Ehret, Georg, Ellis, Stephen B., Feenstra, Bjarke, Feitosa, Mary F., Ford, Ian, Fox, Caroline S., Frayling, Timothy M., Friedrich, Nele, Geller, Frank, Scotland, Generation, Gillham-Nasenya, Irina, Gottesman, Omri, Graff, Misa, Grodstein, Francine, Gu, Charles, Haley, Chris, Hammond, Christopher J., Harris, Sarah E., Harris, Tamara B., Hastie, Nicholas D., Heard-Costa, Nancy L., Heikkilä, Kauko, Hocking, Lynne J., Homuth, Georg, Hottenga, Jouke-Jan, Huang, Jinyan, Huffman, Jennifer E., Hysi, Pirro G., Ikram, Arfan M., Ingelsson, Erik, Joensuu, Anni, Johansson, Åsa, Jousilahti, Pekka, Jukema, Wouter J., Kähönen, Mika, Kamatani, Yoichiro, Kanoni, Stavroula, Kerr, Shona M., Khan, Nazir M., Koellinger, Philipp, Koistinen, Heikki A., Kooner, Manraj K., Kubo, Michiaki, Kuusisto, Johanna, Lahti, Jari, Launer, Lenore J., Lea, Rodney A., Lehne, Benjamin, Lehtimäki, Terho, Liewald, David C.M., Lind, Lars, Loh, Marie, Lokki, Marja-Liisa, London, Stephanie J., Loomis, Stephanie J., Loukola, Anu, Lu, Yingchang, Lumley, Thomas, Lundqvist, Annamari, Männistö, Satu, Marques-Vidal, Pedro, Masciullo, Corrado, Matchan, Angela, Mathias, Rasika A., Matsuda, Koichi, Meigs, James B., Meisinger, Christa, Meitinger, Thomas, Menni, Cristina, Mentch, Frank D., Mihailov, Evelin, Milani, Lili, Montasser, May E., Montgomery, Grant W., Morrison, Alanna, Myers, Richard H., Nadukuru, Rajiv, Navarro, Pau, Nelis, Mari, Nieminen, Markku S., Nolte, Ilja M., OʼConnor, George T., Ogunniyi, Adesola, Padmanabhan, Sandosh, Palmas, Walter R., Pankow, James S., Patarcic, Inga, Pavani, Francesca, Peyser, Patricia A., Pietilainen, Kirsi, Poulter, Neil, Prokopenko, Inga, Ralhan, Sarju, Redmond, Paul, Rich, Stephen S., Rissanen, Harri, Robino, Antonietta, Rose, Lynda M., Rose, Richard, Sala, Cinzia, Salako, Babatunde, Salomaa, Veikko, Sarin, Antti-Pekka, Saxena, Richa, Schmidt, Helena, Scott, Laura J., Scott, William R., Sennblad, Bengt, Seshadri, Sudha, Sever, Peter, Shrestha, Smeeta, Smith, Blair H., Smith, Jennifer A., Soranzo, Nicole, Sotoodehnia, Nona, Southam, Lorraine, Stanton, Alice V., Stathopoulou, Maria G., Strauch, Konstantin, Strawbridge, Rona J., Suderman, Matthew J., Tandon, Nikhil, Tang, Sian-Tsun, Taylor, Kent D., Tayo, Bamidele O., Töglhofer, Anna Maria, Tomaszewski, Maciej, Tšernikova, Natalia, Tuomilehto, Jaakko, Uitterlinden, Andre G., Vaidya, Dhananjay, van Hylckama Vlieg, Astrid, van Setten, Jessica, Vasankari, Tuula, Vedantam, Sailaja, Vlachopoulou, Efthymia, Vozzi, Diego, Vuoksimaa, Eero, Waldenberger, Melanie, Ware, Erin B., Wentworth-Shields, William, Whitfield, John B., Wild, Sarah, Willemsen, Gonneke, Yajnik, Chittaranjan S., Yao, Jie, Zaza, Gianluigi, Zhu, Xiaofeng, Salem, Rany M., Melbye, Mads, Bisgaard, Hans, Samani, Nilesh J., Cusi, Daniele, Mackey, David A., Cooper, Richard S., Froguel, Philippe, Pasterkamp, Gerard, Grant, Struan F.A., Hakonarson, Hakon, Ferrucci, Luigi, Scott, Robert A., Morris, Andrew D., Palmer, Colin N. A., Dedoussis, George, Deloukas, Panos, Bertram, Lars, Lindenberger, Ulman, Berndt, Sonja I., Lindgren, Cecilia M., Timpson, Nicholas J., Tönjes, Anke, Munroe, Patricia B., Sørensen, Thorkild I. A., Rotimi, Charles N., Arnett, Donna K., Oldehinkel, Albertine J., Kardia, Sharon L. R., Balkau, Beverley, Gambaro, Giovanni, Morris, Andrew P., Eriksson, Johan G., Wright, Margie J., Martin, Nicholas G., Hunt, Steven C., Starr, John M., Deary, Ian J., Griffiths, Lyn R., Tiemeier, Henning, Pirastu, Nicola, Kaprio, Jaakko, Wareham, Nicholas J., Pérusse, Louis, Wilson, James G., Girotto, Giorgia, Caulfield, Mark J., Raitakari, Olli, Boomsma, Dorret I., Gieger, Christian, van der Harst, Pim, Hicks, Andrew A., Kraft, Peter, Sinisalo, Juha, Knekt, Paul, Johannesson, Magnus, Magnusson, Patrik K. E., Hamsten, Anders, Schmidt, Reinhold, Borecki, Ingrid B., Vartiainen, Erkki, Becker, Diane M., Bharadwaj, Dwaipayan, Mohlke, Karen L., Boehnke, Michael, van Duijn, Cornelia M., Sanghera, Dharambir K., Teumer, Alexander, Zeggini, Eleftheria, Metspalu, Andres, Gasparini, Paolo, Ulivi, Sheila, Ober, Carole, Toniolo, Daniela, Rudan, Igor, Porteous, David J., Ciullo, Marina, Spector, Tim D., Hayward, Caroline, Dupuis, Josée, Loos, Ruth J. F., Wright, Alan F., Chandak, Giriraj R., Vollenweider, Peter, Shuldiner, Alan R., Ridker, Paul M., Rotter, Jerome I., Sattar, Naveed, Gyllensten, Ulf, North, Kari E., Pirastu, Mario, Psaty, Bruce M., Weir, David R., Laakso, Markku, Gudnason, Vilmundur, Takahashi, Atsushi, Chambers, John C., Kooner, Jaspal S., Strachan, David P., Campbell, Harry, Hirschhorn, Joel N., Perola, Markus, Polašek, Ozren, and Wilson, James F.

Published
2015
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2. Biological, clinical and population relevance of 95 loci for blood lipids

Author

Teslovich, Tanya M., Musunuru, Kiran, Smith, Albert V., Edmondson, Andrew C., Stylianou, Ioannis M., Koseki, Masahiro, Pirruccello, James P., Ripatti, Samuli, Chasman, Daniel I., Willer, Cristen J., Johansen, Christopher T., Fouchier, Sigrid W., Isaacs, Aaron, Peloso, Gina M., Barbalic, Maja, Ricketts, Sally L., Bis, Joshua C., Aulchenko, Yurii S., Thorleifsson, Gudmar, Feitosa, Mary F., Chambers, John, Orho-Melander, Marju, Melander, Olle, Johnson, Toby, Li, Xiaohui, Guo, Xiuqing, Li, Mingyao, Cho, Yoon Shin, Go, Min Jin, Kim, Young Jin, Lee, Jong-Young, Park, Taesung, Kim, Kyunga, Sim, Xueling, Ong, Rick Twee-Hee, Croteau-Chonka, Damien C., Lange, Leslie A., Smith, Joshua D., Song, Kijoung, Zhao, Jing Hua, Yuan, Xin, Luan, Jian’an, Lamina, Claudia, Ziegler, Andreas, Zhang, Weihua, Zee, Robert Y. L., Wright, Alan F., Witteman, Jacqueline C. M., Wilson, James F., Willemsen, Gonneke, Wichmann, H.-Erich, Whitfield, John B., Waterworth, Dawn M., Wareham, Nicholas J., Waeber, Gérard, Vollenweider, Peter, Voight, Benjamin F., Vitart, Veronique, Uitterlinden, Andre G., Uda, Manuela, Tuomilehto, Jaakko, Thompson, John R., Tanaka, Toshiko, Surakka, Ida, Stringham, Heather M., Spector, Tim D., Soranzo, Nicole, Smit, Johannes H., Sinisalo, Juha, Silander, Kaisa, Sijbrands, Eric J. G., Scuteri, Angelo, Scott, James, Schlessinger, David, Sanna, Serena, Salomaa, Veikko, Saharinen, Juha, Sabatti, Chiara, Ruokonen, Aimo, Rudan, Igor, Rose, Lynda M., Roberts, Robert, Rieder, Mark, Psaty, Bruce M., Pramstaller, Peter P., Pichler, Irene, Perola, Markus, Penninx, Brenda W. J. H., Pedersen, Nancy L., Pattaro, Cristian, Parker, Alex N., Pare, Guillaume, Oostra, Ben A., O’Donnell, Christopher J., Nieminen, Markku S., Nickerson, Deborah A., Montgomery, Grant W., Meitinger, Thomas, McPherson, Ruth, McCarthy, Mark I., McArdle, Wendy, Masson, David, Martin, Nicholas G., Marroni, Fabio, Mangino, Massimo, Magnusson, Patrik K. E., Lucas, Gavin, Luben, Robert, Loos, Ruth J. F., Lokki, Marja-Liisa, Lettre, Guillaume, Langenberg, Claudia, Launer, Lenore J., Lakatta, Edward G., Laaksonen, Reijo, Kyvik, Kirsten O., Kronenberg, Florian, König, Inke R., Khaw, Kay-Tee, Kaprio, Jaakko, Kaplan, Lee M., Johansson, Åsa, Jarvelin, Marjo-Riitta, Janssens, Cecile A. J. W., Ingelsson, Erik, Igl, Wilmar, Hovingh, G. Kees, Hottenga, Jouke-Jan, Hofman, Albert, Hicks, Andrew A., Hengstenberg, Christian, Heid, Iris M., Hayward, Caroline, Havulinna, Aki S., Hastie, Nicholas D., Harris, Tamara B., Haritunians, Talin, Hall, Alistair S., Gyllensten, Ulf, Guiducci, Candace, Groop, Leif C., Gonzalez, Elena, Gieger, Christian, Freimer, Nelson B., Ferrucci, Luigi, Erdmann, Jeanette, Elliott, Paul, Ejebe, Kenechi G., Döring, Angela, Dominiczak, Anna F., Demissie, Serkalem, Deloukas, Panagiotis, de Geus, Eco J. C., de Faire, Ulf, Crawford, Gabriel, Collins, Francis S., Chen, Yii-der I., Caulfield, Mark J., Campbell, Harry, Burtt, Noel P., Bonnycastle, Lori L., Boomsma, Dorret I., Boekholdt, Matthijs S., Bergman, Richard N., Barroso, Inês, Bandinelli, Stefania, Ballantyne, Christie M., Assimes, Themistocles L., Quertermous, Thomas, Altshuler, David, Seielstad, Mark, Wong, Tien Y., Tai, E-Shyong, Feranil, Alan B., Kuzawa, Christopher W., Adair, Linda S., Taylor, Herman A., Jr, Borecki, Ingrid B., Gabriel, Stacey B., Wilson, James G., Holm, Hilma, Thorsteinsdottir, Unnur, Gudnason, Vilmundur, Krauss, Ronald M., Mohlke, Karen L., Ordovas, Jose M., Munroe, Patricia B., Kooner, Jaspal S., Tall, Alan R., Hegele, Robert A., Kastelein, John J.P., Schadt, Eric E., Rotter, Jerome I., Boerwinkle, Eric, Strachan, David P., Mooser, Vincent, Stefansson, Kari, Reilly, Muredach P., Samani, Nilesh J, Schunkert, Heribert, Cupples, Adrienne L., Sandhu, Manjinder S., Ridker, Paul M, Rader, Daniel J., van Duijn, Cornelia M., Peltonen, Leena, Abecasis, Gonçalo R., Boehnke, Michael, and Kathiresan, Sekar

Published
2010
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3. Mouse Small eye results from mutations in a paired-like homeobox-containing gene

Author

Hill, Robert E., Favor, Jack, Hogan, Brigid L.M., Ton, Carl C.T., Saunders, Grady F., Hanson, Isabel M., Prosser, Jane, Jordan, Tim, Hastie, Nicholas D., and van Heyningen, Veronica

Subjects
Mice -- Genetic aspects, Mutation (Biology) -- Research, Environmental issues, Science and technology, Zoology and wildlife conservation
Published
1991

4. Defective mitosis due to a mutation in the gene for a fission yeast 26S protease subunit

Author

Gordon, Colin, McGurk, Gordon, Dillon, Patrick, Rosen, Craig, and Hastie, Nicholas D.

Subjects
Proteases -- Research, Yeast -- Genetic aspects, Amino acid sequence -- Analysis, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

A study of the defective mutant in fission yeast, Schizosaccharomyces pombe, reveals a methylbenzylcarbomylate-resistant, temperature sensitive mts2 mutant defective in chromosome segregation. A cloned mts2+ gene has an amino-acid sequence similar to that of the 26S protease subunit, HeLaS4, which rescues the mts2 mutant and the mts null allele. The mts2 mutant reveals defective ubiquitin-dependent degradation on studying mts2 protein extracts.

Published
1993

5. Telomere reduction in human colorectal carcinoma and with ageing

Author

Hastie, Nicholas D., Dempster, Maureen, Dunlop, Malcolm G., Thompson, Alastair M., Green, Daryll K., and Allshire, Robin C.

Subjects
Chromosome abnormalities -- Genetic aspects, Aging -- Genetic aspects, Colorectal cancer -- Genetic aspects, Age -- Genetic aspects, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

The ends of chromosomes, called telomeres, were known to be important even before DNA was demonstrated to be the genetic substance. More recent research has found that special DNA sequences exist in the telomeres, which apparently serve to prevent the inappropriate sticking of the ends of two distinct chromosomes. In many organisms, the breakdown and buildup of these telomeric sequences is in delicate balance. Research has now shown that human somatic cells may have a tendency for telomere breakdown. The observation that end-to-end fusion of chromosomes occurs in some tumor cells lead to the investigation of telomeric sequences in colorectal carcinoma, a very common human cancer. In humans, the telomere consists of a repetition of the sequence TTAGGG. When probes for this sequence are applied to human DNA, more probe will be bound by samples with long telomeres, and less will be bound by probes with sort telomeres. The results showed that the telomeres of colorectal cancer cells are shorter than those in normal cells from the same patient. In addition, it was shown that the telomeres from older normal cells are shorter than those of younger cells. This suggests that the loss of length of the telomeres may be a consequence of the normal replication of cells, and the short telomeres of the cancer cells may reflect the fact that these cells have replicated more often than their normal counterparts. It is worth noting that the reduction of telomere length in the colorectal cancers has already taken place by the time the tissue becomes an adenoma, representing a premalignant early stage of a colorectal cancer. Researchers speculate that these changes may initiate other genetic alterations which control the transition to malignancy. (Consumer Summary produced by Reliance Medical Information, Inc.)

Published
1990

6. Beta amyloid resurrected

Author

Wright, alan F., Goedert, Michel, and Hastie, Nicholas D.

Subjects
Alzheimer's disease -- Genetic aspects, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

A research report, appearing in the February 21, 1991 issue of Nature magazine, by Goate and colleagues reopens a debate concerning the genetic basis of Alzheimer's disease (AD), the most common age-related brain disorder. Since the proportion of people with AD increases steeply with increasing age, genetic factors may affect the age of symptom development. Families with late-onset AD provide the strongest evidence for a genetic basis; earlier research mapped the suspect gene to chromosome 21. The likely gene was thought to be the amyloid precursor protein (APP) gene, which encodes a protein precursor for amyloid beta-protein, an abnormal protein present in the plaques that are a main neuropathological correlate of AD. However, evidence from other families showed that recombination events, rather than a mutation, were associated with AD. The investigators in Goate's report studied genetic linkage in six early-onset families and excluded regions of chromosome 21 on either side of the APP gene, narrowing the focus once again to that gene. They then sequenced the part of the gene that contained the amyloid beta protein-encoding sequence, identified in an affected patient. A mutation was discovered that was present in the same gene in other family members, but was not found in any of 200 normal chromosomes, or in any chromosomes from late-onset AD. The next stage of investigation is to ascertain how common this mutation is in the general population and in cases of early-onset familial and non-familial AD. The significance of the recombinations involving chromosome 21 remains to be determined; perhaps there is another defective gene that causes these events. Amyloid-forming proteins are now implicated in several hereditary neurological disorders, including hereditary cerebral hemorrhage with amyloidosis and some forms of Creutzfeldt-Jakob disease. Definitive experiments are required. (Consumer Summary produced by Reliance Medical Information, Inc.)

Published
1991

9. Accelerated evolution in the reactive centre regions of serine protease inhibitors

Author

Hill, Robert E. and Hastie, Nicholas D.

Abstract

The serine protease inhibitors (serpins) are a family of proteins that function to control the action of serine proteases in many diverse physiological processes. The functional region or reactive centre of these inhibitors is near the C-terminal end and is an exposed site that acts as a bait for the appropriate serine protease to recognize and covalently bind. The specificity of the inhibitor is determined, at least in part, by a single amino acid that resides in this region at the P1position1. We show here that following a gene duplication event the reactive centres of three related rodent protease inhibitors have diverged from each other at unprecedented rates. This has resulted in proteins with different predicted specificities and we postulate that these changes were fixed by positive darwinian selection and that the most likely selective forces are extrinsic proteases, namely those used by parasites to facilitate their spread throughout the host.

Published
1987
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