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- Scherer, SW, et al.
(author)
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Human chromosome 7: DNA sequence and biology
- 2003
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In: Science (New York, N.Y.). - : American Association for the Advancement of Science (AAAS). - 1095-9203 .- 0036-8075. ; 300:5620, s. 767-772
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Journal article (peer-reviewed)abstract
- DNA sequence and annotation of the entire human chromosome 7, encompassing nearly 158 million nucleotides of DNA and 1917 gene structures, are presented. To generate a higher order description, additional structural features such as imprinted genes, fragile sites, and segmental duplications were integrated at the level of the DNA sequence with medical genetic data, including 440 chromosome rearrangement breakpoints associated with disease. This approach enabled the discovery of candidate genes for developmental diseases including autism.
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- Jordalen, Gro, et al.
(author)
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The Role of Self-Control and Motivation on Exhaustion in Youth Athletes : A Longitudinal Perspective
- 2018
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In: Frontiers in Psychology. - Lausanne : Frontiers Media S.A.. - 1664-1078. ; 9
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Journal article (peer-reviewed)abstract
- The depletion of self-control competencies has been explained by an external shift in motivation, and recent research has emphasized that controlled types of motivation and self-control competencies are positively associated with exhaustion in youth athletes. Using the self-determination theory and self-control theories, this study examined associations between athletes’ motivation, self-control competencies, and exhaustion experiences throughout a competitive season. A total of 321 winter sport youth athletes (173 males, 98 females, and 50 unknown gender; aged 16 to 20 years, M = 17.98, SD = 0.89) participated in this 10-week longitudinal study, including three time points. Using Bayesian structural equation modeling, associations between athletes’ reported level of motivation regulations, self-control, and exhaustion throughout their competitive season were examined in two mediation models. Constructs were associated in a conceptual and consistent manner. Simple mediation models showed credible indirect and direct effects of motivation on exhaustion via self-control within amotivation, and intrinsic, integrated, identified, and external regulation analyses. These credible effects were not replicated in the focused mediation model, when controlling for self-control and exhaustion autoregressive effects. However, direction of effects in both models was consistent and congruent. Findings consistently supported the interplay between motivation and exhaustion via self-control in youth athletes over an important competition period of the year. Autonomous and controlled motivation interacted with self-control and respectively predicted perceived exhaustion negatively and positively. Thus, autonomous self-control motives are important in preventing negative sport participation development over time. However, simple and focused mediation models showed different results, suggesting a necessity for accurate considerations of analytical methods chosen to investigate longitudinal mediation. Specifically, future studies need to carefully consider the time interval between measurement time points when investigating changes in dynamic psychological constructs, and include autoregressive longitudinal effects in order to predict change in levels of the outcome over time. © 2018 Jordalen, Lemyre, Solstad and Ivarsson.
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- Uddin, M, et al.
(author)
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Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay
- 2016
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In: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 6, s. 28663-
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Journal article (peer-reviewed)abstract
- A challenge in clinical genomics is to predict whether copy number variation (CNV) affecting a gene or multiple genes will manifest as disease. Increasing recognition of gene dosage effects in neurodevelopmental disorders prompted us to develop a computational approach based on critical-exon (highly expressed in brain, highly conserved) examination for potential etiologic effects. Using a large CNV dataset, our updated analyses revealed significant (P < 1.64 × 10−15) enrichment of critical-exons within rare CNVs in cases compared to controls. Separately, we used a weighted gene co-expression network analysis (WGCNA) to construct an unbiased protein module from prenatal and adult tissues and found it significantly enriched for critical exons in prenatal (P < 1.15 × 10−50, OR = 2.11) and adult (P < 6.03 × 10−18, OR = 1.55) tissues. WGCNA yielded 1,206 proteins for which we prioritized the corresponding genes as likely to have a role in neurodevelopmental disorders. We compared the gene lists obtained from critical-exon and WGCNA analysis and found 438 candidate genes associated with CNVs annotated as pathogenic, or as variants of uncertain significance (VOUS), from among 10,619 developmental delay cases. We identified genes containing CNVs previously considered to be VOUS to be new candidate genes for neurodevelopmental disorders (GIT1, MVB12B and PPP1R9A) demonstrating the utility of this strategy to index the clinical effects of CNVs.
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