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1.
Nature ; 484(7392): 55-61, 2012 Apr 04.
Artigo em Inglês | MEDLINE | ID: mdl-22481358

RESUMO

Marine stickleback fish have colonized and adapted to thousands of streams and lakes formed since the last ice age, providing an exceptional opportunity to characterize genomic mechanisms underlying repeated ecological adaptation in nature. Here we develop a high-quality reference genome assembly for threespine sticklebacks. By sequencing the genomes of twenty additional individuals from a global set of marine and freshwater populations, we identify a genome-wide set of loci that are consistently associated with marine-freshwater divergence. Our results indicate that reuse of globally shared standing genetic variation, including chromosomal inversions, has an important role in repeated evolution of distinct marine and freshwater sticklebacks, and in the maintenance of divergent ecotypes during early stages of reproductive isolation. Both coding and regulatory changes occur in the set of loci underlying marine-freshwater evolution, but regulatory changes appear to predominate in this well known example of repeated adaptive evolution in nature.


Assuntos
Adaptação Fisiológica/genética , Evolução Biológica , Genoma/genética , Smegmamorpha/genética , Alaska , Animais , Organismos Aquáticos/genética , Inversão Cromossômica/genética , Cromossomos/genética , Sequência Conservada/genética , Ecótipo , Feminino , Água Doce , Variação Genética/genética , Genômica , Dados de Sequência Molecular , Água do Mar , Análise de Sequência de DNA
2.
Nature ; 478(7370): 476-82, 2011 Oct 12.
Artigo em Inglês | MEDLINE | ID: mdl-21993624

RESUMO

The comparison of related genomes has emerged as a powerful lens for genome interpretation. Here we report the sequencing and comparative analysis of 29 eutherian genomes. We confirm that at least 5.5% of the human genome has undergone purifying selection, and locate constrained elements covering ∼4.2% of the genome. We use evolutionary signatures and comparisons with experimental data sets to suggest candidate functions for ∼60% of constrained bases. These elements reveal a small number of new coding exons, candidate stop codon readthrough events and over 10,000 regions of overlapping synonymous constraint within protein-coding exons. We find 220 candidate RNA structural families, and nearly a million elements overlapping potential promoter, enhancer and insulator regions. We report specific amino acid residues that have undergone positive selection, 280,000 non-coding elements exapted from mobile elements and more than 1,000 primate- and human-accelerated elements. Overlap with disease-associated variants indicates that our findings will be relevant for studies of human biology, health and disease.


Assuntos
Evolução Molecular , Genoma Humano/genética , Genoma/genética , Mamíferos/genética , Animais , Doença , Éxons/genética , Genômica , Saúde , Humanos , Anotação de Sequência Molecular , Filogenia , RNA/classificação , RNA/genética , Seleção Genética/genética , Alinhamento de Sequência , Análise de Sequência de DNA
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