43 research outputs found
4.1: Nonbiopsy of presumed fibroadenomas in patients <30 years: is it safe? A single unit experience and review of European practice
Modes of Gene Duplication Contribute Differently to Genetic Novelty and Redundancy, but Show Parallels across Divergent Angiosperms
BACKGROUND: Both single gene and whole genome duplications (WGD) have recurred in angiosperm evolution. However, the evolutionary effects of different modes of gene duplication, especially regarding their contributions to genetic novelty or redundancy, have been inadequately explored. RESULTS: In Arabidopsis thaliana and Oryza sativa (rice), species that deeply sample botanical diversity and for which expression data are available from a wide range of tissues and physiological conditions, we have compared expression divergence between genes duplicated by six different mechanisms (WGD, tandem, proximal, DNA based transposed, retrotransposed and dispersed), and between positional orthologs. Both neo-functionalization and genetic redundancy appear to contribute to retention of duplicate genes. Genes resulting from WGD and tandem duplications diverge slowest in both coding sequences and gene expression, and contribute most to genetic redundancy, while other duplication modes contribute more to evolutionary novelty. WGD duplicates may more frequently be retained due to dosage amplification, while inferred transposon mediated gene duplications tend to reduce gene expression levels. The extent of expression divergence between duplicates is discernibly related to duplication modes, different WGD events, amino acid divergence, and putatively neutral divergence (time), but the contribution of each factor is heterogeneous among duplication modes. Gene loss may retard inter-species expression divergence. Members of different gene families may have non-random patterns of origin that are similar in Arabidopsis and rice, suggesting the action of pan-taxon principles of molecular evolution. CONCLUSION: Gene duplication modes differ in contribution to genetic novelty and redundancy, but show some parallels in taxa separated by hundreds of millions of years of evolution
Duplication and Retention Biases of Essential and Non-Essential Genes Revealed by Systematic Knockdown Analyses
When a duplicate gene has no apparent loss-of-function phenotype, it is commonly considered that the phenotype has been masked as a result of functional redundancy with the remaining paralog. This is supported by indirect evidence showing that multi-copy genes show loss-of-function phenotypes less often than single-copy genes and by direct tests of phenotype masking using select gene sets. Here we take a systematic genome-wide RNA interference approach to assess phenotype masking in paralog pairs in the Caenorhabditis elegans genome. Remarkably, in contrast to expectations, we find that phenotype masking makes only a minor contribution to the low knockdown phenotype rate for duplicate genes. Instead, we find that non-essential genes are highly over-represented among duplicates, leading to a low observed loss-of-function phenotype rate. We further find that duplicate pairs derived from essential and non-essential genes have contrasting evolutionary dynamics: whereas non-essential genes are both more often successfully duplicated (fixed) and lost, essential genes are less often duplicated but upon successful duplication are maintained over longer periods. We expect the fundamental evolutionary duplication dynamics presented here to be broadly applicableclose9
The Roles of Whole-Genome and Small-Scale Duplications in the Functional Specialization of Saccharomyces cerevisiae Genes
peer-reviewedThis study was supported by Science Foundation Ireland grants to MAF under two programs: the President of Ireland Young Researcher Award (04/YI1/M518) and the Research Frontiers Program (10/RFP/GEN2685). The study of distribution of mutations in duplicates and their possible effects on fitness was supported by a grant from the Ministerio de Ciencia e Innovacion (BFU2009-12022) to MAF. CT is supported by a long-term postdoctoral EMBO fellowship (EMBO ALTF 730-2011).Researchers have long been enthralled with the idea that gene duplication can generate novel functions, crediting this
process with great evolutionary importance. Empirical data shows that whole-genome duplications (WGDs) are more likely
to be retained than small-scale duplications (SSDs), though their relative contribution to the functional fate of duplicates
remains unexplored. Using the map of genetic interactions and the re-sequencing of 27 Saccharomyces cerevisiae genomes
evolving for 2,200 generations we show that SSD-duplicates lead to neo-functionalization while WGD-duplicates partition
ancestral functions. This conclusion is supported by: (a) SSD-duplicates establish more genetic interactions than singletons
and WGD-duplicates; (b) SSD-duplicates copies share more interaction-partners than WGD-duplicates copies; (c) WGDduplicates
interaction partners are more functionally related than SSD-duplicates partners; (d) SSD-duplicates gene copies
are more functionally divergent from one another, while keeping more overlapping functions, and diverge in their subcellular
locations more than WGD-duplicates copies; and (e) SSD-duplicates complement their functions to a greater extent
than WGD–duplicates. We propose a novel model that uncovers the complexity of evolution after gene duplicationScience Foundation IrelandMinisterio de Ciencia e InnovacionEuropean Molecular Biology Organizatio