Variabilidade na coordenação motora: uma abordagem centrada no delineamento gemelar

O propósito deste estudo foi estimar a contribuição dos fatores genéticos e ambientais na variabilidade do desempenho interindividual na coordenação motora. A amostra foi constituída por 64 pares de gêmeos portugueses, com idades entre cinco e 14 anos. Avaliou-se o desempenho da coordenação através das quatro provas da bateria KTK: equilíbrio à retaguarda (ER); saltos monopedais (SM); transposição lateral (TL); saltos laterais (SL). Calculou-se o coeficiente de correlação intraclasse (t), sendo estimada a contribuição dos fatores genéticos (a²), ambientais comuns (c²) e únicos (e²). Os resultados mostram valores de t mais elevados entre gêmeos monozigóticos, sugerindo presença de fatores genéticos. Entretanto, estimativas de a² foram baixas, variando entre 15% (TL) e 41% (SM), enquanto para c² situaram-se entre 46% (SL) e 58% (TL), e para e² entre 11% (SM) e 28% (TL). Conclui-se que fatores ambientais são responsáveis pela maior parcela de influência na variabilidade do desempenho na coordenação motora.El objetivo del presente estudio fue estimar la contribución de los factores genéticos y ambientales en la vEl objetivo del presente estudio fue estimar la contribución de los factores genéticos y ambientales en la variabilidad del desempeño interindividual en la coordinación motora. La muestra fue constituida por 64 pares de gemelos portugueses, con edades entre 5 y 14 años. Se evaluó el desempeño de la coordinación a través de las cuatro pruebas de la batería KTK: equilibrio a la retaguardia (ER); saltos monopedales (SM); transposición lateral (TL); saltos laterales (SL). Se calculó el coeficiente intraclase (t), siendo estimada la contribución de los factores genéticos (a²), ambientales comunes (c²) y únicos (e²). Los resultados muestran valores t mas elevados entre gemelos monocigóticos, sugiriendo la presencia de factores genéticos. Por otro lado, estimaciones de a² fueron bajas, variando entre 15% (TL) y 41% (SM), mientras para c² se sitúan entre 46% (SL) y 58% (TL), y para e² entre 11% (SM) y 28% (TL). Se concluye que factores ambientales son responsables por la mayor porción de influencia de la variabilidad del desempeño en la coordinación motora.The purpose of this study was to estimate the contribution of environmental and genetic factors on the variability of interindividual performance in motor coordination. Sample comprised 64 twin pairs, aged 5 to 14 years old, from Portugal. Motor coordination was evaluated by KTK battery: backward balance (ER); hopping on one leg (SM); shifting platforms (TL); jumping sideways (SL). Intraclass correlation coefficient (t) was calculated. Contributions of genetic (a²), shared (c²) and unique environmental (e²) factors were estimated. Our results showed t values higher in monozygotic twins, suggesting the presence of genetic factors. Nevertheless, a² estimates were low, ranging from 15% (TL) to 41% (SM), while to common environment (c²) ranged from 46% (SL) to 58% (TL), and unique effects ranged from 11% (SM) to 28% (TL). These results suggest that environmental factors are responsible for the greatest part of influence on variability of interindividual performance in motor coordination tests

Pan-cancer analysis of whole genomes

Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale. Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4-5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation; analyses timings and patterns of tumour evolution; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity; and evaluates a range of more-specialized features of cancer genomes