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Tidskriftsartikel (refereegranskat)
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- Birney, Ewan, et al.
(författare)
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Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
- 2007
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 447:7146, s. 799-816
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Tidskriftsartikel (refereegranskat)abstract
- We report the generation and analysis of functional data from multiple, diverse experiments performed on a targeted 1% of the human genome as part of the pilot phase of the ENCODE Project. These data have been further integrated and augmented by a number of evolutionary and computational analyses. Together, our results advance the collective knowledge about human genome function in several major areas. First, our studies provide convincing evidence that the genome is pervasively transcribed, such that the majority of its bases can be found in primary transcripts, including non-protein-coding transcripts, and those that extensively overlap one another. Second, systematic examination of transcriptional regulation has yielded new understanding about transcription start sites, including their relationship to specific regulatory sequences and features of chromatin accessibility and histone modification. Third, a more sophisticated view of chromatin structure has emerged, including its inter-relationship with DNA replication and transcriptional regulation. Finally, integration of these new sources of information, in particular with respect to mammalian evolution based on inter- and intra-species sequence comparisons, has yielded new mechanistic and evolutionary insights concerning the functional landscape of the human genome. Together, these studies are defining a path for pursuit of a more comprehensive characterization of human genome function.
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- Yu, Wei, et al.
(författare)
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Increased risk of respiratory and allergic diseases in preschoolers from building envelope dampness exposure : Repeated cross-sectional surveys in multicity China
- 2023
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Ingår i: Building and Environment. - : Elsevier. - 0360-1323 .- 1873-684X. ; 241
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Tidskriftsartikel (refereegranskat)abstract
- Building envelope dampness exposure is correlated with children's respiratory and allergic diseases. However, little research has compared the variation in the health impact of dampness exposure across multiple cities from a longitudinal perspective. A cross-sectional survey and a repeated one were conducted in children's residences in six cities: Chongqing, Shanghai, Nanjing, Wuhan, Changsha and Taiyuan, China, in 2010 (Phase I) and 2019 (Phase II). We selected 17,810 preschoolers during Phase I and 26,001 preschoolers during Phase II aged 3-6 years without changing residence since birth in the study. The proportion of residences with building envelope dampness exposure and the prevalence of respiratory and allergic diseases, except allergic rhinitis, in preschoolers significantly declined from Phase I to Phase II. Dampness exposure increased the risk for most childhood respiratory diseases in Phase II, with a 34% greater risk of lifetime-ever asthma in early residences and a 36% greater risk of current eczema in current residences. Most diseases showed a significantly positive exposureresponse relationship to the cumulative period of building envelope dampness exposure (p < 0.05). The risk of developing current eczema was approximately 1.35 and 1.73 times higher in children exposed to both early and current dampness in Phase I and Phase II, respectively, than in children who had never been exposed. These findings provide new insights into the respiratory and allergic diseases in Chinese preschoolers because of building envelope dampness exposure over the last decade. The increased risk in Phase II raises concerns about the household's dampness environment.
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- Zhang, Guojie, et al.
(författare)
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Comparative genomics reveals insights into avian genome evolution and adaptation
- 2014
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 346:6215, s. 1311-1320
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Tidskriftsartikel (refereegranskat)abstract
- Birds are the most species-rich class of tetrapod vertebrates and have wide relevance across many research fields. We explored bird macroevolution using full genomes from 48 avian species representing all major extant clades. The avian genome is principally characterized by its constrained size, which predominantly arose because of lineage-specific erosion of repetitive elements, large segmental deletions, and gene loss. Avian genomes furthermore show a remarkably high degree of evolutionary stasis at the levels of nucleotide sequence, gene synteny, and chromosomal structure. Despite this pattern of conservation, we detected many non-neutral evolutionary changes in protein-coding genes and noncoding regions. These analyses reveal that pan-avian genomic diversity covaries with adaptations to different lifestyles and convergent evolution of traits.
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