Genetics (Scholarly Publications): Recent submissions
Now showing items 41-60 of 360
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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 ... -
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 ... -
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 ...
