Now showing items 1-12 of 12

    • Candidate genes and functional noncoding variants identified in a canine model of obsessive-compulsive disorder 

      Tang, Ruqi; Noh, Hyun Ji; Wang, Dongqing; Sigurdsson, Snaevar; Swofford, Ross; Perloski, Michele; Duxbury, Margaret; Patterson, Edward E; Albright, Julie; Castelhano, Marta; Auton, Adam; Boyko, Adam R; Feng, Guoping; Lindblad-Toh, Kerstin; Karlsson, Elinor K (BioMed Central, 2014)
      Background: Obsessive-compulsive disorder (OCD), a severe mental disease manifested in time-consuming repetition of behaviors, affects 1 to 3% of the human population. While highly heritable, complex genetics has hampered ...
    • A Composite of Multiple Signals Distinguishes Causal Variants in Regions of Positive Selection 

      Shylakhter, Ilya; Karlsson, Elinor Kathryn; Byrne, Elizabeth Hockfield; Morales, Shannon; Frieden, Gabriel; Hostetter, Elizabeth; Angelino, Elaine Lee; Garber, Manuel; Zuk, Or; Lander, Eric Steven; Schaffner, Stephen; Sabeti, Pardis Christine; Grossman, Sharon Rachel (American Association for Advancement of Science, 2010)
      The human genome contains hundreds of regions whose patterns of genetic variation indicate recent positive natural selection, yet for most the underlying gene and the advantageous mutation remain unknown. We developed a ...
    • Evaluation of the Serotonergic Genes htr1A, htr1B, htr2A, and slc6A4 in Aggressive Behavior of Golden Retriever Dogs 

      van den Berg, L.; Vos-Loohuis, M.; Schilder, M. B. H.; van Oost, B. A.; Hazewinkel, H. A. W.; Wade, C. M.; Karlsson, Elinor Kathryn; Lindblad-Toh, K.; Liinamo, A. E.; Leegwater, P. A. J. (Springer US, 2007)
      Aggressive behavior displays a high heritability in our study group of Golden Retriever dogs. Alterations in brain serotonin metabolism have been described in aggressive dogs before. Here, we evaluate whether four genes ...
    • A genetic basis of variation in eccrine sweat gland and hair follicle density 

      Kamberov, Yana George; Karlsson, Elinor; Kamberova, Gerda L.; Lieberman, Daniel E.; Sabeti, Pardis Christine; Morgan, Bruce Allan; Tabin, Clifford James (Proceedings of the National Academy of Sciences, 2015)
      Among the unique features of humans, one of the most salient is the ability to effectively cool the body during extreme prolonged activity through the evapotranspiration of water on the skin's surface. The evolution of ...
    • A Genome Assembly-Integrated Dog 1 Mb BAC Microarray: A Cytogenetic Resource for Canine Cancer Studies and Comparative Genomic Analysis 

      Thomas, R.; Duke, S. E.; Karlsson, Elinor Kathryn; Evans, A.; Ellis, P.; Lindblad-Toh, K.; Langford, C.F.; Breen, M. (Karger, 2008)
      Molecular cytogenetic studies have been instrumental in defining the nature of numerical and structural chromosome changes in human cancers, but their significance remains to be fully understood. The emergence of high ...
    • Genome-wide analyses implicate 33 loci in heritable dog osteosarcoma, including regulatory variants near CDKN2A/B 

      Karlsson, Elinor K; Sigurdsson, Snaevar; Ivansson, Emma; Thomas, Rachael; Elvers, Ingegerd; Wright, Jason; Howald, Cedric; Tonomura, Noriko; Perloski, Michele; Swofford, Ross; Biagi, Tara; Fryc, Sarah; Anderson, Nathan; Courtay-Cahen, Celine; Youell, Lisa; Ricketts, Sally L; Mandlebaum, Sarah; Rivera, Patricio; von Euler, Henrik; Kisseberth, William C; London, Cheryl A; Lander, Eric S; Couto, Guillermo; Comstock, Kenine; Starkey, Mike P; Modiano, Jaime F; Breen, Matthew; Lindblad-Toh, Kerstin (BioMed Central, 2013)
      Background: Canine osteosarcoma is clinically nearly identical to the human disease, but is common and highly heritable, making genetic dissection feasible. Results: Through genome-wide association analyses in three breeds ...
    • Identification and Functional Validation of the Novel Antimalarial Resistance Locus PF10_0355 in Plasmodium falciparum 

      Van Tyne, Daria Natalie; Park, Daniel John; Schaffner, Stephen; Neafsey, Daniel Edward; Angelino, Elaine Lee; Cortese, Joseph F.; Barnes, Kayla G.; Rosen, David M.; Lukens, Amanda Kathleen; Daniels, Rachel Fath; Milner, Danny Arnold; Johnson, Charles A.; Shlyakhter, Ilya; Grossman, Sharon Rachel; Becker, Justin S.; Yamins, Daniel Louis Kanef; Karlsson, Elinor Kathryn; Ndiaye, Daouda; Sarr, Ousmane; Mboup, Souleymane; Happi, Christian Tientcha; Furlotte, Nicholas A.; Eskin, Eleazar; Kang, Hyun Min; Hartl, Daniel L.; Birren, Bruce W.; Wiegand, Roger C.; Lander, Eric Steven; Wirth, Dyann Fergus; Cooke, Sarah Volkman; Sabeti, Pardis Christine (Public Library of Science, 2011)
      The Plasmodium falciparum parasite's ability to adapt to environmental pressures, such as the human immune system and antimalarial drugs, makes malaria an enduring burden to public health. Understanding the genetic basis ...
    • Identifying Recent Adaptations in Large-Scale Genomic Data 

      Grossman, Shamai Aaron; Andersen, Kristian G; Shlyakhter, Ilya; Tabrizi, Shervin; Winnicki, Sarah M.; Yen, Angela; Park, Daniel J.; Griesemer, Dustin Shahab; Karlsson, Elinor Kathryn; Wong, Sunny H.; Cabili, Moran; Adegbola, Richard A.; Bamezai, Rameshwar N.K.; Hill, Adrian V.S.; Vannberg, Fredrik O.; Rinn, John L; Lander, Eric Steven; Schaffner, Stephen; Sabeti, Pardis Christine (Elsevier BV, 2013)
      Summary: Although several hundred regions of the human genome harbor signals of positive natural selection, few of the relevant adaptive traits and variants have been elucidated. Using full-genome sequence variation from ...
    • Natural selection and infectious disease in human populations 

      Karlsson, Elinor Kathryn; Kwiatkowski, Dominic P.; Sabeti, Pardis Christine (Springer Nature, 2014)
      The ancient biological 'arms race' between microbial pathogens and humans has shaped genetic variation in modern populations, and this has important implications for the growing field of medical genomics. As humans migrated ...
    • Natural Selection in a Bangladeshi Population from the Cholera-Endemic Ganges River Delta 

      Karlsson, Elinor Kathryn; Harris, J. B.; Tabrizi, Shervin; Rahman, A.; Shlyakhter, Ilya; Patterson, N.; O, C.; Schaffner, Stephen; Gupta, S.; Chowdhury, F.; Sheikh, A.; Shin, O. S.; Ellis, C.; Becker, C. E.; Stuart, L. M.; Calderwood, Stephen Beaven; Ryan, Edward Thomas; Qadri, F.; Sabeti, Pardis Christine; Larocque, Regina Celes (American Association for the Advancement of Science (AAAS), 2013)
      As an ancient disease with high fatality, cholera has likely exerted strong selective pressure on affected human populations. We performed a genome-wide study of natural selection in a population from the Ganges River ...
    • A Novel Unstable Duplication Upstream of HAS2 Predisposes to a Breed-Defining Skin Phenotype and a Periodic Fever Syndrome in Chinese Shar-Pei Dogs 

      Olsson, Mia; Meadows, Jennifer R. S.; Rosengren Pielberg, Gerli; Puppo, Francesca; Mauceli, Evan; Quilez, Javier; Tonomura, Noriko; Zanna, Giordana; Bassols, Anna; Avery, Anne C.; Thomas, Anne; Kastner, Daniel L.; Bongcam-Rudloff, Erik; Webster, Matthew T.; Sanchez, Armand; Remmers, Elaine F.; Andersson, Leif; Ferrer, Lluis; Tintle, Linda; Lindblad-Toh, Kerstin; Georges, Michel; Truve, Katarina; Docampo, Maria Jose; Hedhammar, Ake; Karlsson, Elinor Kathryn (Public Library of Science, 2011)
      Hereditary periodic fever syndromes are characterized by recurrent episodes of fever and inflammation with no known pathogenic or autoimmune cause. In humans, several genes have been implicated in this group of diseases, ...
    • A Simple Repeat Polymorphism in the MITF-M Promoter Is a Key Regulator of White Spotting in Dogs 

      Baranowska Körberg, Izabella; Sundström, Elisabeth; Meadows, Jennifer R. S.; Rosengren Pielberg, Gerli; Gustafson, Ulla; Hedhammar, Åke; Karlsson, Elinor K.; Seddon, Jennifer; Söderberg, Arne; Vilà, Carles; Zhang, Xiaolan; Åkesson, Mikael; Lindblad-Toh, Kerstin; Andersson, Göran; Andersson, Leif (Public Library of Science, 2014)
      The white spotting locus (S) in dogs is colocalized with the MITF (microphtalmia-associated transcription factor) gene. The phenotypic effects of the four S alleles range from solid colour (S) to extreme white spotting ...