Genetics: Recent submissions
Now showing items 81-100 of 578
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Exploring the functions of PRC2 in development and congenital disorders
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2022)Polycomb group (PcG) proteins are key chromatin-based repressors of gene expression that play important roles in lineage-specification and cellular memory. PcG proteins assemble into multi-subunit complexes, termed Polycomb ... -
Development of gene therapies for retinal degenerations
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2021)The studies described in this thesis explore potential gene therapies for retinal degenerative diseases using adeno-associated virus (AAV) vectors for gene delivery. Inherited retinal degenerations (IRDs) are a leading ... -
Polycomb PHF19 binds H3K36me3 and recruits PRC2 and demethylase NO66 to embryonic stem cell genes during differentiation
(2012)Polycomb group proteins are repressive chromatin modifiers with essential roles in metazoan development, cellular differentiation and cell fate maintenance. How Polycomb proteins access active chromatin to confer transcriptional ... -
Simultaneous disruption of PRC2 and enhancer function underlies histone H3.3-K27M oncogenic activity in human hindbrain neural stem cells.
(2021)Driver mutations in genes encoding histone H3 proteins resulting in p.Lys27Met substitutions (H3-K27M) are frequent in pediatric midline brain tumors. However, the precise mechanisms by which H3-K27M causes tumor initiation ... -
Novel therapeutic approaches for open-angle glaucoma
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2021)Glaucoma is the leading cause of blindness worldwide after cataracts and it is estimated that the global prevalence of glaucoma will increase to 111.8 million by 2040 (1, 2). Primary open-angle glaucoma (POAG) is characterized ... -
Investigating the molecular mechanisms that control the transformation of leaves into floral organs.
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2021)Arabidopsis thaliana is the model plant which has been used to elucidate the molecular and genetic processes which underlie floral organogenesis. This is the process in which the four floral organs are formed which is ... -
Exceptional ancient DNA preservation and fibre remains of a Sasanian saltmine sheep mummy in Chehrābād
(2021)Mummified remains have long attracted interest as a potential source of ancient DNA. However, mummification is a rare process that requires an anhydrous environment to rapidly dehydrate and preserve tissue before complete ... -
Colony Stimulating Factor 1 Receptor and Blood-Brain Barrier Maintenance
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2021)Cerebrovascular pathologies occur in up to 80% of cases of Alzheimer's disease; however, the underlying mechanisms that lead to perivascular pathology and accompanying blood-brain barrier (BBB) disruption are still not ... -
Epistatic and Independent Effects on Schizophrenia-Related Phenotypes Following Co-disruption of the Risk Factors Neuregulin-1 × DISC1
(2017)Few studies have addressed likely gene × gene (ie, epistatic) interactions in mediating risk for schizophrenia. Using a preclinical genetic approach, we investigated whether simultaneous disruption of the risk factors ... -
Synaesthesia lost and found: two cases of person- and music-colour synaesthesia
(2017)Synaesthesia is a developmental condition involving cross-communication between sensory modalities or substreams whereby an inducer (e.g. a sound) automatically evokes a concurrent percept in another modality (e.g. a ... -
Neurogenomics - towards a more rigorous science
(2018)The field of neurogenomics is coming of age, but not without some teething problems. The aim of this field is to understand the genetic basis of differences in brain structure and function, which in turn underlie differences ... -
The role of polygenic risk score gene-set analysis in the context of the omnigenic model of schizophrenia
(2019)A recent development in the genetic architecture of schizophrenia suggested that an omnigenic model may underlie the risk for this disorder. The aim of our study was to use polygenic profile scoring to quantitatively assess ... -
Data for 3D reconstruction of the corticospinal tract in the wild-type and Semaphorin 6A knockout adult brain
(2019)The corticospinal tract (CST) has a complex and long trajectory throughout the brain. Semaphorin 6A (Sema6A), a member of the semaphorin family, is one of the important regulators of CST axon guidance. Previous studies ... -
Remarkable complexity and variability of corticospinal tract defects in adult Semaphorin 6A knockout mice
(2019)The corticospinal tract (CST) has a complex and long trajectory that originates in the cerebral cortex and ends in the spinal cord. Semaphorin 6A (Sema6A), a member of the semaphorin family, is an important regulator of ... -
Characterising the effects of sex interaction, pleiotropy and local population structure on ALS GWAS
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2021)In the past decade, increasingly large-scale genome wide association studies (GWAS) have gleaned insights into the genetic architecture of a range of human traits. Widespread sharing of summary statistics for these GWAS ... -
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 ...
