362 research outputs found

    MART 111A.03M: Integrated Digital Art

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    MART 391.01: Special Topics - Social Media

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    MART 102:51 Digital Technology in the Arts Online

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    Temporal trends in genetic data and effective population size support efficacy of management practices in critically endangered dusky gopher frogs ( Lithobates sevosus )

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    Monitoring temporal changes in population genetic diversity and effective population size can provide vital information on future viability. The dusky gopher frog, Lithobates sevosus, is a critically endangered species found only in coastal Mississippi, with low genetic variability as a consequence of isolation and population size reduction. Conservation management practices have been implemented, but their efficacy has not been addressed. We genotyped individuals collected 1997–2014 to determine temporal trends in population genetic variation, structure, and effective size. Observed and expected heterozygosity and allelic richness revealed temporally stable, but low, levels of genetic variation. Positive levels of inbreeding were found in each year. There was weak genetic structure among years, which can be attributed to increased effects of genetic drift and inbreeding in small populations. L. sevosus exhibited an increase in effective population size, and currently has an estimated effective size of 33.0– 58.6 individuals, which is approximately half the census size. This large ratio could possibly be explained by genetic compensation. We found that management practices have been effective at maintaining and improving effective size and genetic diversity, but that additional strategies need to be implemented to enhance viability of the species

    Salamanders

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    12 p. : ill. ; 24 cm.Includes bibliographical references (p. 11-12)

    New Early Eocene mammalian fauna from western Patagonia, Argentina

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    Two new fossil mammal localities from the Paleogene of central-western Patagonia are preliminarily described as the basis for a new possible biochronological unit for the early Eocene of Patagonia, correlated as being between two conventional SALMAs, the Riochican (older) and the Vacan subage of the Casamayoran SALMA. The mammal-bearing strata belong to the Middle Chubut River Volcanic-Pyroclastic Complex (northwestern Chubut Province, Argentina), of Paleocene-Eocene age. This complex includes a variety of volcaniclastic, intrusive, pyroclastic, and extrusive rocks deposited after the K-T boundary. Geochronological data taken from nearby volcanic deposits that underlie and overlie the mammal-bearing levels indicate that both faunas are of late early Eocene age (Ypresian-Lutetian boundary). In addition to more than 50 species of mammals, including marsupials, ungulates, and xenarthrans, two lower molars are the oldest evidence of bats in South America. Paleobotanical and palynological evidence from inferred contemporary localities nearby indicate subtropical environments characterized by warm and probably moderately humid climate. Remarkably, this new fauna is tentatively correlated with Eocene mammals from the La Meseta Formation in the Antarctic Peninsula. We conclude that the two localities mentioned above are part of a possible new biochronological unit, but the formal proposal of a new SALMA awaits completion of taxonomic analysis of the materials reported upon here. If the La Meseta fauna is correlated biochronologically to western Patagonia, this also suggests a continental extension of the biogeographic Weddelian Province as far north as central-western Patagonia

    Psychiatric disorders in children with 16p11.2 deletion and duplication

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    Deletion and duplication of 16p11.2 (BP4–BP5) have been associated with an increased risk of intellectual disability and psychiatric disorder. This is the first study to compare the frequency of a broad spectrum of psychiatric disorders in children with 16p11.2 deletion and duplication. We aimed to evaluate (1) the nature and prevalence of psychopathology associated with copy number variation (CNV) in children with 16p11.2 by comparing deletion and duplication carriers with family controls; (2) whether deletion and duplication carriers differ in frequency of psychopathology. 217 deletion carriers, 77 deletion family controls, 114 duplication carriers, and 32 duplication family controls participated in the study. Measures included standardized research diagnostic instruments. Deletion carriers had a higher frequency of any psychiatric disorder (OR = 8.9, p < 0.001), attention deficit hyperactivity disorder (ADHD) (OR = 4.0, p = 0.01), and autism spectrum disorder (ASD) (OR = 39.9, p = 0.01) than controls. Duplication carriers had a higher frequency of any psychiatric diagnosis (OR = 5.3, p = 0.01) and ADHD (OR = 7.0, p = 0.02) than controls. The prevalence of ASD in child carriers of deletions and duplications was similar (22% versus 26%). Comparison of the two CNV groups indicated a higher frequency of ADHD in children with the duplication than deletion (OR = 2.7, p = 0.04) as well as a higher frequency of overall psychiatric disorders (OR = 2.8, p = 0.02) and psychotic symptoms (OR = 4.7, p = 0.02). However, no differences between deletion and duplications carriers in the prevalence of ASD were found. Both deletion and duplication are associated with an increased risk of psychiatric disorder, supporting the importance of early recognition, diagnosis, and intervention in these groups

    The Role of Parental Cognitive, Behavioral, and Motor Profiles in Clinical Variability in Individuals with Chromosome 16p11.2 Deletions

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    Importance Most disorders caused by copy number variants (CNVs) display significant clinical variability, often referred to as incomplete penetrance and variable expressivity. Genetic and environmental sources of this variability are not well understood. Objectives To investigate the contributors to phenotypic variability in probands with CNVs involving the same genomic region; to measure the effect size for de novo mutation events; and to explore the contribution of familial background to resulting cognitive, behavioral, and motor performance outcomes in probands with de novo CNVs. Design, Setting, and Participants Family-based study design with a volunteer sample of 56 individuals with de novo 16p11.2 deletions and their noncarrier parents and siblings from the Simons Variation in Individuals Project. Main Outcomes and Measures We used linear mixed-model analysis to measure effect size and intraclass correlation to determine the influence of family background for a de novo CNV on quantitative traits representing the following 3 neurodevelopmental domains: cognitive ability (Full-Scale IQ), social behavior (Social Responsiveness Scale), and neuromotor performance (Purdue Pegboard Test). We included an anthropometric trait, body mass index, for comparison. Results A significant deleterious effect of the 16p11.2 deletion was demonstrated across all domains. Relative to the biparental mean, the effect sizes were −1.7 SD for cognitive ability, 2.2 SD for social behavior, and −1.3 SD for neuromotor performance (P \u3c .001). Despite large deleterious effects, significant positive correlations between parents and probands were preserved for the Full-Scale IQ (0.42 [P = .03]), the verbal IQ (0.53 [P = .004]), and the Social Responsiveness Scale (0.52 [P = .009]) scores. We also observed a 1-SD increase in the body mass index of probands compared with siblings, with an intraclass correlation of 0.40 (P = .07). Conclusions and Relevance Analysis of families with de novo CNVs provides the least confounded estimate of the effect size of the 16p11.2 deletion on heritable, quantitative traits and demonstrates a 1- to 2-SD effect across all neurodevelopmental dimensions. Significant parent-proband correlations indicate that family background contributes to the phenotypic variability seen in this and perhaps other CNV disorders and may have implications for counseling families regarding their children’s developmental and psychiatric prognoses. Use of biparental mean scores rather than general population mean scores may be more relevant to examine the effect of a mutation or any other cause of trait variation on a neurodevelopmental outcome and possibly on systems of diagnosis and trait ascertainment for developmental disorders
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