- Hypervariable antigen genes in malaria have ancient rootsMartine M Zilversmit
National Institute of Allergy of Infectious Disease, National Institutes of Health, 12735 Twinbrook Parkway, Rockville, MD 20852, USA
BMC Evol Biol 13:110. 2013..Although studying genetic diversity is a major focus of recent work on the var genes, little is known about the gene family's origin and evolutionary history...
- Selective constraint, background selection, and mutation accumulation variability within and between human populationsAlan Hodgkinson
Sainte Justine Research Centre, Department of Pediatrics, University of Montreal, Montreal, Canada
BMC Genomics 14:495. 2013..Here we utilise this relationship to test differences in the accumulation of putatively deleterious mutations both between populations and on the individual level...
- High recombination rates and hotspots in a Plasmodium falciparum genetic crossHongying Jiang
Laboratory of Malaria and Vector Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892, USA
Genome Biol 12:R33. 2011..A better understanding of these mechanisms may provide important information for studying parasite evolution, immune evasion and drug resistance...
- Selection shapes malaria genomes and drives divergence between pathogens infecting hominids versus rodentsFranck Prugnolle
Laboratoire GEMI, UMR 2724 CNRS IRD, 911 Avenue Agropolis, BP 64501, 34394 Montpellier Cedex 5, France
BMC Evol Biol 8:223. 2008..reichenowi) versus parasites infecting rodent hosts (P. yoelii yoelii, P. berghei, and P. chabaudi). Adaptation by the parasite to its host is likely highly critical to the evolution of these species...
- Direct measure of the de novo mutation rate in autism and schizophrenia cohortsPhilip Awadalla
Department of Pediatrics, Universite de Montreal, Quebec, Canada
Am J Hum Genet 87:316-24. 2010..Our results emphasize the importance of DNMs as genetic mechanisms in ASD and SCZ and the limitations of using DNA from archived cell lines to identify functional variants...
- A population genetic approach to mapping neurological disorder genes using deep resequencingRachel A Myers
Department of Pediatrics, University of Montreal, Montreal, Canada
PLoS Genet 7:e1001318. 2011..Additionally, our findings support the hypothesis that rare mutations account for a proportion of the phenotypic variance of these complex disorders...
- Rare allelic forms of PRDM9 associated with childhood leukemogenesisJulie Hussin
Department of Biochemistry, Faculty of Medicine, University of Montreal, Montreal H3C 3J7, Canada
Genome Res 23:419-30. 2013..PRDM9 variability in humans is thought to influence genomic instability, and these data support a potential role for PRDM9 variation in risk of acquiring aneuploidies or genomic rearrangements associated with childhood leukemogenesis...
- Next-generation sequencing approaches for genetic mapping of complex diseasesFerran Casals
Centre de Recherche du Centre Hospitalier Universitaire Sainte Justine, Universite de Montreal, Montreal, Quebec, Canada
J Neuroimmunol 248:10-22. 2012..In this review we present the main next-generation sequencing technologies, with their major contributions and possible applications to the study of the genetic etiology of complex diseases...
- Evidence for additive and interaction effects of host genotype and infection in malariaYoussef Idaghdour
Mother and Child University Hospital Center CHU Sainte Justine, Universite de Montreal, Montreal, QC, Canada H3T 1C5
Proc Natl Acad Sci U S A 109:16786-93. 2012..These results suggest that host variation and its interplay with infection affect children's ability to cope with infection and suggest a polygenic model mounted at the transcriptional level for susceptibility...
- De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophreniaJulie Gauthier
Department of Medicine, Centre of Excellence in Neuromics of Université de Montréal, Centre Hospitalier de L Universite de Montreal Research Center, Universite de Montreal, Montreal, QC H2L 2W5, Canada
Proc Natl Acad Sci U S A 107:7863-8. 2010..As mutations in SHANK3 were previously reported in autism, the occurrence of SHANK3 mutations in subjects with a schizophrenia phenotype suggests a molecular genetic link between these two neurodevelopmental disorders...
- Age-dependent recombination rates in human pedigreesJulie Hussin
Department of Biochemistry, Faculty of Medicine, University of Montreal, Montreal, Canada
PLoS Genet 7:e1002251. 2011..We propose a model that reconciles our findings with reported associations between maternal age and recombination in cases of trisomies...