journal
MENU ▼
Read by QxMD icon Read
search

Trends in Genetics: TIG

journal
https://www.readbyqxmd.com/read/28434610/gene-duplicates-agents-of-robustness-or-fragility
#1
Reiner A Veitia
A recent analysis of paralog deletion in yeast has shown that functional compensation and dependency occur equally. While theory predicts that compensation produces robustness, the authors hypothesized that stabilization of one paralogous protein through interaction with its copy could explain dependency. Here, we provide alternative explanations, such as selection for increased protein dosage and hypofunctionalization.
April 20, 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/28420493/etiology-of-human-genetic-disease-on-the-fly
#2
REVIEW
Clement Y Chow, Lawrence T Reiter
The model organism Drosophila melanogaster has been at the forefront of genetic studies since before the discovery of DNA. Although human disease modeling in flies may still be rather novel, recent advances in genetic tool design and genome sequencing now confer huge advantages in the fly system when modeling human disease. In this review, we focus on new genomic tools for human gene variant analysis; new uses for the Drosophila Genetic Reference Panel (DGRP) in detection of background alleles that influence a phenotype; and several examples of how multigenic conditions, both complex disorders and duplication and/or deletion syndromes, can be effectively studied in the fly model system...
April 15, 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/28372848/splicing-factor-mutations-in-myelodysplasias-insights-from-spliceosome-structures
#3
REVIEW
Jermaine L Jenkins, Clara L Kielkopf
Somatic mutations of pre-mRNA splicing factors recur among patients with myelodysplastic syndrome (MDS) and related malignancies. Although these MDS-relevant mutations alter the splicing of a subset of transcripts, the mechanisms by which these single amino acid substitutions change gene expression remain controversial. New structures of spliceosome intermediates and associated protein complexes shed light on the molecular interactions mediated by 'hotspots' of the SF3B1 and U2AF1 pre-mRNA splicing factors...
March 31, 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/28365141/comparative-approaches-to-genetic-discrimination-chasing-shadows
#4
REVIEW
Yann Joly, Ida Ngueng Feze, Lingqiao Song, Bartha M Knoppers
Genetic discrimination (GD) is one of the most pervasive issues associated with genetic research and its large-scale implementation. An increasing number of countries have adopted public policies to address this issue. Our research presents a worldwide comparative review and typology of these approaches. We conclude with suggestions for public policy development.
March 29, 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/28365140/deregulation-of-crtcs-in-aging-and-age-related-disease-risk
#5
REVIEW
Caroline C Escoubas, Carlos G Silva-GarcĂ­a, William B Mair
Advances in public health in the past century have seen a sharp increase in human life expectancy. With these changes have come an increased prevalence of age-related pathologies and health burdens in the elderly. Patient age is the biggest risk factor for multiple chronic conditions that often occur simultaneously within a single individual. An alternative to disease-centric therapeutic approaches is that of 'geroscience', which aims to define molecular mechanisms that link age to overall disease risk. One such mechanism is deregulation of CREB-regulated transcriptional coactivators (CRTCs)...
March 29, 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/28359583/enhancer-derived-lncrnas-regulate-genome-architecture-fact-or-fiction
#6
Stephanie Fanucchi, Musa M Mhlanga
How does the non-coding portion of the genome contribute to the regulation of genome architecture? A recent paper by Tan et al. focuses on the relationship between cis-acting complex-trait-associated lincRNAs and the formation of chromosomal contacts in topologically associating domains (TADs).
March 27, 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/28359582/variation-in-recombination-rate-adaptive-or-not
#7
REVIEW
Kathryn R Ritz, Mohamed A F Noor, Nadia D Singh
Rates of meiotic recombination are widely variable both within and among species. However, the functional significance of this variation remains largely unknown. Is the observed within-species variation in recombination rate adaptive? Recent work has revealed new insight into the scale and scope of population-level variation in recombination rate. These data indicate that the magnitude of within-population variation in recombination is similar among taxa. The apparent similarity of the variance in recombination rate among individuals between distantly related species suggests that the relative costs and benefits of recombination that establish the upper and lower bounds may be similar across species...
March 27, 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/28268034/epistasis-in-neuropsychiatric-disorders
#8
REVIEW
Caleb Webber
The contribution of epistasis to human disease remains unclear. However, several studies have now identified epistatic interactions between common variants that increase the risk of a neuropsychiatric disorder, while there is growing evidence that genetic interactions contribute to the pathogenicity of rare, multigenic copy-number variants (CNVs) that have been observed in patients. This review discusses the current evidence for epistatic events and genetic interactions in neuropsychiatric disorders, how paradigm shifts in the phenotypic classification of patients would empower the search for epistatic effects, and how network and cellular models might be employed to further elucidate relevant epistatic interactions...
March 3, 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/28236503/y-and-w-chromosome-assemblies-approaches-and-discoveries
#9
REVIEW
Marta Tomaszkiewicz, Paul Medvedev, Kateryna D Makova
Hundreds of vertebrate genomes have been sequenced and assembled to date. However, most sequencing projects have ignored the sex chromosomes unique to the heterogametic sex - Y and W - that are known as sex-limited chromosomes (SLCs). Indeed, haploid and repetitive Y chromosomes in species with male heterogamety (XY), and W chromosomes in species with female heterogamety (ZW), are difficult to sequence and assemble. Nevertheless, obtaining their sequences is important for understanding the intricacies of vertebrate genome function and evolution...
February 21, 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/28222895/the-epigenetic-regulator-smchd1-in-development-and-disease
#10
REVIEW
Natasha Jansz, Kelan Chen, James M Murphy, Marnie E Blewitt
It has very recently become clear that the epigenetic modifier SMCHD1 has a role in two distinct disorders: facioscapulohumoral muscular dystrophy (FSHD) and Bosma arhinia and micropthalmia (BAMS). In the former there are heterozygous loss-of-function mutations, while both gain- and loss-of-function mutations have been proposed to underlie the latter. These findings have led to much interest in SMCHD1 and how it works at the molecular level. We summarise here current understanding of the mechanism of action of SMCHD1, its role in these diseases, and what has been learnt from study of mouse models null for Smchd1 in the decade since the discovery of SMCHD1...
February 17, 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/28196760/polycomb-group-systems-in-fungi-new-models-for-understanding-polycomb-repressive-complex-2
#11
REVIEW
Zachary A Lewis
Polycomb group (PcG) proteins form multiple complexes that direct assembly of transcriptionally repressed chromatin, an essential process for multicellular development. Recent studies in plants and animals have uncovered surprising complexity in the form of multiple, variant PcG complexes governed by an extensive regulatory network. PcG proteins are absent from major yeast models, but recent research revealed minimal PcG systems in several well-studied fungi. In both animals and fungi, PcG complexes are responsive to local chromatin structure, but important aspects of PcG regulation remain unknown...
February 11, 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/28174022/the-evolution-and-genetics-of-carotenoid-processing-in-animals
#12
REVIEW
David P L Toews, Natalie R Hofmeister, Scott A Taylor
Coloration is one of the most conspicuous traits that varies among organisms. Carotenoid pigments are responsible for many of the red, orange, and yellow colors in the natural world and, at least for most animals, these molecules must be acquired from their environment. Identifying genes important for carotenoid transport, deposition, and processing has been difficult, in contrast to the well-characterized genes involved in the melanogenesis pathways. We review recent progress in the genetics of carotenoid processing, advances owing in part to the application of high-throughput sequencing data...
February 4, 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/28174020/necessity-is-the-mother-of-invention-ciliates-transposons-and-transgenerational-inheritance
#13
REVIEW
Sarah E Allen, Mariusz Nowacki
Ciliates are a fascinating model system for the study of the interaction between eukaryotic germlines and somatic lines, especially with regard to the invasion and defence against transposable elements. They separate their germline and somatic line into two nuclei within the same cell, and they silence transposons and repetitive elements by way of deleting them from their somatic genome. This large-scale deletion event uses a series of intricate sequence targeting pathways involving small RNAs and transposases, part of which consists of a transnuclear comparison between maternal soma and daughter germline...
February 4, 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/28174019/understanding-idiopathic-scoliosis-a-new-zebrafish-school-of-thought
#14
REVIEW
Curtis W Boswell, Brian Ciruna
Idiopathic scoliosis (IS) refers to a 3D rotation of the spine that occurs in the absence of underlying vertebral anomalies or obvious physiological defects. Despite affecting approximately 4% of the population, the etiology and pathogenesis of IS remain poorly understood, largely due to genetic heterogeneity and historical lack of appropriate developmental models. Recently, zebrafish has emerged as a powerful system for studying IS, owing to well-developed genetic resources and a natural susceptibility to spinal curvatures...
February 4, 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/28174018/evolving-plastic-responses-to-external-and-genetic-environments
#15
Max Reuter, M Florencia Camus, Mark S Hill, Filip Ruzicka, Kevin Fowler
Phenotypic plasticity can mitigate adaptive trade-offs in fluctuating environments but how plasticity arises is little known. New research documents this process in a bacterial system. We highlight remarkable parallels to the evolution of sexual dimorphism and argue that their approach can aid our understanding of adaptive conflicts between the sexes.
February 4, 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/28359585/imaging-translational-and-post-translational-gene-regulatory-dynamics-in-living-cells-with-antibody-based-probes
#16
REVIEW
Kenneth Lyon, Timothy J Stasevich
Antibody derivatives, such as antibody fragments (Fabs) and single-chain variable fragments (scFvs), are now being used to image traditionally hard-to-see protein subpopulations, including nascent polypeptides being translated and post-translationally modified proteins. This has allowed researchers to directly image and quantify, for the first time, translation initiation and elongation kinetics with single-transcript resolution and the temporal ordering and kinetics of post-translational histone and RNA polymerase II modifications...
May 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/28359584/specialize-and-divide-twice-functions-of-three-aurora-kinase-homologs-in-mammalian-oocyte-meiotic-maturation
#17
REVIEW
Alexandra L Nguyen, Karen Schindler
The aurora kinases (AURKs) comprise an evolutionarily conserved family of serine/threonine kinases involved in mitosis and meiosis. While most mitotic cells express two AURK isoforms (AURKA and AURKB), mammalian germ cells also express a third, AURKC. Although much is known about the functions of the kinases in mitosis, less is known about how the three isoforms function to coordinate meiosis. This review is aimed at describing what is known about the three isoforms in female meiosis, the similarities and differences between kinase functions, and speculates as to why mammalian germ cells require expression of three AURKs instead of two...
May 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/28292534/synonymous-codons-choose-wisely-for-expression
#18
REVIEW
Christina E Brule, Elizabeth J Grayhack
The genetic code, which defines the amino acid sequence of a protein, also contains information that influences the rate and efficiency of translation. Neither the mechanisms nor functions of codon-mediated regulation were well understood. The prevailing model was that the slow translation of codons decoded by rare tRNAs reduces efficiency. Recent genome-wide analyses have clarified several issues. Specific codons and codon combinations modulate ribosome speed and facilitate protein folding. However, tRNA availability is not the sole determinant of rate; rather, interactions between adjacent codons and wobble base pairing are key...
April 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/28245910/genomics-of-islet-dys-function-and-type-2-diabetes
#19
REVIEW
Nathan Lawlor, Shubham Khetan, Duygu Ucar, Michael L Stitzel
Pancreatic islet dysfunction and beta cell failure are hallmarks of type 2 diabetes mellitus (T2DM) pathogenesis. In this review, we discuss how genome-wide association studies (GWASs) and recent developments in islet (epi)genome and transcriptome profiling (particularly single cell analyses) are providing novel insights into the genetic, environmental, and cellular contributions to islet (dys)function and T2DM pathogenesis. Moving forward, study designs that interrogate and model genetic variation [e.g., allelic profiling and (epi)genome editing] will be critical to dissect the molecular genetics of T2DM pathogenesis, to build next-generation cellular and animal models, and to develop precision medicine approaches to detect, treat, and prevent islet (dys)function and T2DM...
April 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/28174021/biogenesis-and-function-of-ago-associated-rnas
#20
REVIEW
Iben Daugaard, Thomas Birkballe Hansen
Numerous sophisticated high-throughput sequencing technologies have been developed over the past decade, and these have enabled the discovery of a diverse catalog of small non-coding (nc)RNA molecules that function as regulatory entities by associating with Argonaute (Ago) proteins. MicroRNAs (miRNAs) are currently the best-described class of post-transcriptional regulators that follow a specific biogenesis pathway characterized by Drosha/DGCR8 and Dicer processing. However, more exotic miRNA-like species that bypass particular steps of the canonical miRNA biogenesis pathway continue to emerge, with one of the most recent additions being the agotrons, which escape both Drosha/DGCR8- and Dicer-processing...
March 2017: Trends in Genetics: TIG
journal
journal
29084
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"