School of Genetics & Microbiology: Recent submissions
Now showing items 141-160 of 911
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Spatial Colocalization of Human Ohnolog Pairs Acts to Maintain Dosage-Balance
(2016)Ohnologs-paralogous gene pairs generated by whole genome duplication-are enriched for dosage sensitive genes, that is, genes that have a phenotype due to copy number changes. Dosage sensitive genes frequently occur in the ... -
Genomes as documents of evolutionary history: A probabilistic macrosynteny model for the reconstruction of ancestral genomes
(2017)Motivation: It has been argued that whole-genome duplication (WGD) exerted a profound influence on the course of evolution. For the purpose of fully understanding the impact of WGD, several formal algorithms have been ... -
Pseudogenes Provide Evolutionary Evidence for the Competitive Endogenous RNA Hypothesis
(2018)The competitive endogenous RNA (ceRNA) hypothesis is an attractively simple model to explain the biological role of many putatively functionless noncoding RNAs. Under this model, there exist transcripts in the cell whose ... -
A Family of Vertebrate-Specific Polycombs Encoded by the LCOR/LCORL Genes Balance PRC2 Subtype Activities
(2018)The polycomb repressive complex 2 (PRC2) consists of core subunits SUZ12, EED, RBBP4/7, and EZH1/2 and is responsible for mono-, di-, and tri-methylation of lysine 27 on histone H3. Whereas two distinct forms exist, PRC2.1 ... -
Macrosynteny analysis shows the absence of ancient whole-genome duplication in lepidopteran insects
(2019)Whole-genome duplication (WGD) is considered a key evolutionary event for genetic innovation and has occurred in diverse eukaryotic lineages (1). In PNAS, Li et al. (2) report multiple WGD events in hexapods, which is ... -
De Novo Genes Arise at a Slow but Steady Rate along the Primate Lineage and Have Been Subject to Incomplete Lineage Sorting
(2016)De novo protein-coding gene origination is increasingly recognized as an important evolutionary mechanism. However, there remains a large amount of uncertainty regarding the frequency of these events and themechanisms and ... -
Synteny-based analyses indicate that sequence divergence is not the main source of orphan genes
(2020)The origin of ‘orphan’ genes, species-specific sequences that lack detectable homologues, has remained mysterious since the dawn of the genomic era. There are two dominant explanations for orphan genes: complete sequence ... -
New genes from non-coding sequence: the role of de novo protein-coding genes in eukaryotic evolutionary innovation
(2015)The origin of novel protein-coding genes de novo was once considered so improbable as to be impossible. In less than a decade, and especially in the last five years, this view has been overturned by extensive evidence from ... -
Ohnologs are overrepresented in pathogenic copy number mutations.
(2014)A number of rare copy number variants (CNVs), including both deletions and duplications, have been associated with developmental disorders, including schizophrenia, autism, intellectual disability, and epilepsy. Pathogenicity ... -
Genome-wide deserts for copy number variation in vertebrates
(2013)Most copy number variations are neutral, but some are deleterious and associated with various human diseases. Copy number variations are distributed non-randomly in vertebrate genomes, and it was recently reported that ... -
Investigating the Circadian Regulation of the Inner Blood Retinal Barrier in Early and Intermediate Age-Related Macular Degeneration
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2021)Age-related macular degeneration (AMD) is the leading cause of central visual impairment worldwide. It is a multifactorial condition leading to the painless, progressive loss of central vision. There are currently no ... -
Structural basis for PRC2 engagement with chromatin
(2020)The polycomb repressive complex 2 (PRC2) is a conservedmultiprotein, repressive chromatin complex essential fordevelopment and maintenance of eukaryotic cellular identity.PRC2 comprises a trimeric core of SUZ12, EED and ... -
IL-33 and IL-18 in inflammatory bowel disease etiology and microbial interactions
(2019)The IL-1 cytokines are a newly expanded family, with each of its 11 members playing an important role in health and disease. Typically acting as pro- or anti-inflammatory mediators of first-line innate immunity, their ... -
Establishing Boundaries: The Relationship That Exists between Intestinal Epithelial Cells and Gut-Dwelling Bacteria.
(2019)The human gastrointestinal (GI) tract is a highly complex organ in which various dynamic physiological processes are tightly coordinated while interacting with a complex community of microorganisms. Within the GI tract, ... -
NLRP1 restricts butyrate producing commensals to exacerbate inflammatory bowel disease
(2018)Anti-microbial signaling pathways are normally triggered by innate immune receptors when detecting pathogenic microbes to provide protective immunity. Here we show that the inflammasome sensor Nlrp1 aggravates DSS-induced ... -
Significance of the chromosomal positions of the genes encoding Integration Host Factor and DNA gyrase in Salmonella.
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Microbiology, 2021)In this thesis, two studies are described that built upon the idea of the chromosomal gene importance. In both studies Salmonella was used as a model organism. In the first study, ihfA and ihfB ? genes that encode ... -
Loss of microRNA-21 influences the gut microbiota causing reduced susceptibility in a murine model of colitis.
(2018)Background and aims: microRNAs regulate gene expression and influence the pathogenesis of human diseases. The present study investigated the role of microRNA-21 [miR-21] in the pathogenesis of intestinal inflammation, ... -
SARM1 deficiency promotes rod and cone photoreceptor cell survival in a model of retinal degeneration
(2020)Retinal degeneration is the leading cause of incurable blindness worldwide and is characterised by progressive loss of light-sensing photoreceptors in the neural retina. SARM1 is known for its role in axonal degeneration, ... -
Advanced late-onset retinitis pigmentosa with dominant-acting D477G RPE65 mutation is responsive to oral synthetic retinoid therapy
(2020)Objectives: No therapeutic interventions are currently available for autosomal dominant retinitis pigmentosa (adRP). An RPE65 Asp477Gly transition associates with late-onset adRP, reduced RPE65 enzymatic activity being one ... -
Non-photoreceptor Expression of Tulp1 May Contribute to Extensive Retinal Degeneration in Tulp1-/- Mice
(2020)Mutations in tubby like protein 1 gene (TULP1) are causative of early-onset recessive inherited retinal degenerations (IRDs); similarly, the Tulp1-/- mouse is also characterized by a rapid IRD. Tulp1 mRNA and protein ...
