Genetics: Recent submissions
Now showing items 101-120 of 578
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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 ... -
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 ... -
AAV-Delivered Tulp1 Supplementation Therapy Targeting Photoreceptors Provides Minimal Benefit in Tulp1−/− Retinas
(2020)With marketing approval of the first ocular gene therapy, and other gene therapies in clinical trial, treatments for inherited retinal degenerations (IRDs) have become a reality. Biallelic mutations in the tubby like protein ... -
Properties and therapeutic implications of an enigmatic d477g rpe65 variant associated with autosomal dominant retinitis pigmentosa
(2020)RPE65 isomerase, expressed in the retinal pigmented epithelium (RPE), is an enzymatic component of the retinoid cycle, converting all-trans retinyl ester into 11-cis retinol, and it is essential for vision, because it ... -
Novel 199 base pair NEFH promoter drives expression in retinal ganglion cells
(2020)Retinal ganglion cells (RGCs) are known to be involved in several ocular disorders, including glaucoma and Leber hereditary optic neuropathy (LHON), and hence represent target cells for gene therapies directed towards these ... -
Fundus Fluorescein Angiography (FFA) in Human Subjects Displays Circadian Variation
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2021)The relationship between retinal inner blood-retina barrier (iBRB) permeability, the circadian clock and their possible role in retinal pathology is unknown. We performed quantitative fundus fluorescein angiography (FFA) ... -
Exploration of an AAV-mediated TULP1 replacement gene therapy and characterization of the Tulp1-/- murine model
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2020)The vertebrate family of tubby-like proteins (TULPs) include the founding member TUB and related members of the tubby-like protein family such as TULP1, TULP2, TULP3, TULP4. TULP1 encoded by TULP1 gene is believed to play ... -
Investigating the Role of the 3'UTR of Claudin-5 and Circadian Rhythms at Tight Junctions in the Blood-Brain Barrier
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2020)The blood-brain barrier (BBB) is comprised of the vasculature surrounding the central nervous system (CNS), and most importantly consists of endothelial cells. These brain endothelial cells have unique properties that ... -
Functional assessment of non-coding regulatory variants in familial breast cancer
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2020)Breast cancer is the most common cancer in Irish women, with almost 3,000 cases diagnosed every year. It often runs in families, and some women inherit a greater risk of developing the disease. Landmark studies on these ... -
Insufficient Evidence for "Autism-Specific" Genes
(2020)Despite evidence that deleterious variants in the same genes are implicated across multiple neurodevelopmental and neuropsychiatric disorders, there has been considerable interest in identifying genes that, when mutated, ... -
De novo emergence of adaptive membrane proteins from thymine-rich genomic sequences
(2020)Recent evidence demonstrates that novel protein-coding genes can arise de novo from non- genic loci. This evolutionary innovation is thought to be facilitated by the pervasive translation of non-genic transcripts, which ...
