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  • SPECTRUM DISORDERS  (3)
  • Lead  (2)
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  • 1
    Keywords: POPULATION ; ASSOCIATION ; SCHIZOPHRENIA ; PERVASIVE DEVELOPMENTAL DISORDERS ; INDIVIDUALS ; SPECTRUM DISORDERS ; Copy number variation ; GENETIC ARCHITECTURE ; NEUROPSYCHIATRIC CONDITIONS ; PTEN MUTATIONS
    Abstract: Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P 〈 5 x 10(-8). When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P 〈 5 x 10(-8) threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C
    Type of Publication: Journal article published
    PubMed ID: 20663923
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  • 2
    Keywords: SPECTRA ; RISK ; GENE ; GENES ; SAMPLES ; COMPLEX ; COMPLEXES ; FAMILY ; ASSOCIATION ; chromosome ; LINKAGE ; NUMBER ; SNP ; HUMAN GENOME ; TWIN ; PREVALENCE ; DISSECTION ; GLUTAMATE ; FAMILIES ; ARRAY ; REARRANGEMENT ; CANDIDATE ; SPECTRUM ; MENTAL-RETARDATION ; LOCI ; NEUROLIGINS ; SPECTRUM DISORDERS
    Abstract: Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,168 families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs
    Type of Publication: Journal article published
    PubMed ID: 17322880
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  • 3
    Keywords: proliferation ; COMBINATION ; PATHWAY ; PATHWAYS ; GENE ; GENES ; COMPLEX ; FAMILY ; IMPACT ; ASSOCIATION ; DISORDER ; FREQUENCY ; LINKAGE ; VARIANTS ; TARGET ; COPY NUMBER ; ARRAYS ; NUMBER ; genotyping ; MUTATIONS ; REVEALS ; TARGETS ; CHILDREN ; DISORDERS ; VARIANT ; DETERMINANTS ; SCIENCE ; development ; LOCUS ; MOTILITY ; LOCI ; SPECTRUM DISORDERS ; Genetic ; RANGE ; Lead ; COPY NUMBER VARIANTS ; Copy number variation ; ANCESTRY ; GENETIC DISORDER ; HIDDEN-MARKOV MODEL ; SNP GENOTYPING DATA
    Abstract: The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviours(1). Individuals with an ASD vary greatly in cognitive development, which can range from above average to intellectual disability(2). Although ASDs are known to be highly heritable (similar to 90%)(3), the underlying genetic determinants are still largely unknown. Here we analysed the genome-wide characteristics of rare (〈1% frequency) copy number variation in ASD using dense genotyping arrays. When comparing 996 ASD individuals of European ancestry to 1,287 matched controls, cases were found to carry a higher global burden of rare, genic copy number variants (CNVs) (1.19 fold, P=0.012), especially so for loci previously implicated in either ASD and/or intellectual disability (1.69 fold, P=3.4 x 10(-4)). Among the CNVs there were numerous de novo and inherited events, sometimes in combination in a given family, implicating many novel ASD genes such as SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53-PTCHD1 locus. We also discovered an enrichment of CNVs disrupting functional gene sets involved in cellular proliferation, projection and motility, and GTPase/Ras signalling. Our results reveal many new genetic and functional targets in ASD that may lead to final connected pathways
    Type of Publication: Journal article published
    PubMed ID: 20531469
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  • 4
    ISSN: 1432-2242
    Keywords: Key words Brassica juncea ; Screening ; Mutants ; Cadmium ; Lead
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract  A new screening method for non-destructive, high-sensitivity, high-throughput isolation of plant mutants capable of accumulating large amounts of heavy metals has been developed. This method is based on incubating seedlings in a solution containing radioisotopes of the metals of interest and visualizing the tissue accumulation of these metals with a phosphorimager. We used this technique to isolate mutants of Brassica juncea (L.) Czern with increased accumulation of Cd and Pb for use in phytoremediation, an emerging technology using plants to remediate polluted soil and water. Approximately 50,000 M2 seedlings were screened and 21 mutants were recovered that retained increased accumulation through the third generation. Mutant 7/15–1 is characterized by enhanced Pb accumulation per unit of root fresh weight, stunted root growth, and decreased root cell size. Data indicate that roots of 7/15–1 contain more cell-wall material on a fresh-weight basis than roots of the wild-type, which may at least partially explain its ability to accumulate more Pb.
    Type of Medium: Electronic Resource
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