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Nature Reviews. Genetics

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https://read.qxmd.com/read/30760854/telomeres-and-telomerase-three-decades-of-progress
#1
REVIEW
Jerry W Shay, Woodring E Wright
Many recent advances have emerged in the telomere and telomerase fields. This Timeline article highlights the key advances that have expanded our views on the mechanistic underpinnings of telomeres and telomerase and their roles in ageing and disease. Three decades ago, the classic view was that telomeres protected the natural ends of linear chromosomes and that telomerase was a specific telomere-terminal transferase necessary for the replication of chromosome ends in single-celled organisms. While this concept is still correct, many diverse fields associated with telomeres and telomerase have substantially matured...
February 13, 2019: Nature Reviews. Genetics
https://read.qxmd.com/read/30737493/a-new-cas-in-town
#2
Linda Koch
No abstract text is available yet for this article.
February 8, 2019: Nature Reviews. Genetics
https://read.qxmd.com/read/30737492/induced-pluripotent-stem-cells-in-disease-modelling-and-drug-discovery
#3
REVIEW
R Grant Rowe, George Q Daley
The derivation of induced pluripotent stem cells (iPSCs) over a decade ago sparked widespread enthusiasm for the development of new models of human disease, enhanced platforms for drug discovery and more widespread use of autologous cell-based therapy. Early studies using directed differentiation of iPSCs frequently uncovered cell-level phenotypes in monogenic diseases, but translation to tissue-level and organ-level diseases has required development of more complex, 3D, multicellular systems. Organoids and human-rodent chimaeras more accurately mirror the diverse cellular ecosystems of complex tissues and are being applied to iPSC disease models to recapitulate the pathobiology of a broad spectrum of human maladies, including infectious diseases, genetic disorders and cancer...
February 8, 2019: Nature Reviews. Genetics
https://read.qxmd.com/read/30696980/integrative-single-cell-analysis
#4
REVIEW
Tim Stuart, Rahul Satija
The recent maturation of single-cell RNA sequencing (scRNA-seq) technologies has coincided with transformative new methods to profile genetic, epigenetic, spatial, proteomic and lineage information in individual cells. This provides unique opportunities, alongside computational challenges, for integrative methods that can jointly learn across multiple types of data. Integrated analysis can discover relationships across cellular modalities, learn a holistic representation of the cell state, and enable the pooling of data sets produced across individuals and technologies...
January 29, 2019: Nature Reviews. Genetics
https://read.qxmd.com/read/30683892/the-long-and-the-short-of-it
#5
Linda Koch
No abstract text is available yet for this article.
January 25, 2019: Nature Reviews. Genetics
https://read.qxmd.com/read/30683891/learning-the-language-of-splicing
#6
Dorothy Clyde
No abstract text is available yet for this article.
January 25, 2019: Nature Reviews. Genetics
https://read.qxmd.com/read/30675018/chromatin-accessibility-and-the-regulatory-epigenome
#7
REVIEW
Sandy L Klemm, Zohar Shipony, William J Greenleaf
Physical access to DNA is a highly dynamic property of chromatin that plays an essential role in establishing and maintaining cellular identity. The organization of accessible chromatin across the genome reflects a network of permissible physical interactions through which enhancers, promoters, insulators and chromatin-binding factors cooperatively regulate gene expression. This landscape of accessibility changes dynamically in response to both external stimuli and developmental cues, and emerging evidence suggests that homeostatic maintenance of accessibility is itself dynamically regulated through a competitive interplay between chromatin-binding factors and nucleosomes...
January 23, 2019: Nature Reviews. Genetics
https://read.qxmd.com/read/30670832/publisher-correction-challenges-in-unsupervised-clustering-of-single-cell-rna-seq-data
#8
Vladimir Yu Kiselev, Tallulah S Andrews, Martin Hemberg
During typesetting of this article, errors were inadvertently introduced to the hyperlinked URLs of some of the clustering tools in table 1 (Seurat, CIDR, pcaReduce and mpath), as well as to the numbering of the bold-text annotations in the reference list. The article has now been corrected online. The editors apologize for this error.
January 22, 2019: Nature Reviews. Genetics
https://read.qxmd.com/read/30670831/human-protein-mutagens-found-via-bacteria
#9
Darren J Burgess
No abstract text is available yet for this article.
January 22, 2019: Nature Reviews. Genetics
https://read.qxmd.com/read/30651610/baby-sequencing-steps
#10
Linda Koch
No abstract text is available yet for this article.
January 16, 2019: Nature Reviews. Genetics
https://read.qxmd.com/read/30647469/genomic-imprinting-disorders-lessons-on-how-genome-epigenome-and-environment-interact
#11
REVIEW
David Monk, Deborah J G Mackay, Thomas Eggermann, Eamonn R Maher, Andrea Riccio
Genomic imprinting, the monoallelic and parent-of-origin-dependent expression of a subset of genes, is required for normal development, and its disruption leads to human disease. Imprinting defects can involve isolated or multilocus epigenetic changes that may have no evident genetic cause, or imprinting disruption can be traced back to alterations of cis-acting elements or trans-acting factors that control the establishment, maintenance and erasure of germline epigenetic imprints. Recent insights into the dynamics of the epigenome, including the effect of environmental factors, suggest that the developmental outcomes and heritability of imprinting disorders are influenced by interactions between the genome, the epigenome and the environment in germ cells and early embryos...
January 15, 2019: Nature Reviews. Genetics
https://read.qxmd.com/read/30622302/a-great-ape-view-of-the-gut-microbiome
#12
REVIEW
Alex H Nishida, Howard Ochman
Humans assemble a specialized microbiome from a world teeming with diverse microorganisms. Comparison to the microbiomes of great apes provides a dimension that is indispensable to understanding how these microbial communities form, function and change. This evolutionary perspective exposes not only how human gut microbiomes have been shaped by our great-ape heritage but also the features that make humans unique, as exemplified by an expansive loss of bacterial and archaeal diversity and the identification of microbial lineages that have co-diversified with their hosts...
January 8, 2019: Nature Reviews. Genetics
https://read.qxmd.com/read/30617341/challenges-in-unsupervised-clustering-of-single-cell-rna-seq-data
#13
REVIEW
Vladimir Yu Kiselev, Tallulah S Andrews, Martin Hemberg
Single-cell RNA sequencing (scRNA-seq) allows researchers to collect large catalogues detailing the transcriptomes of individual cells. Unsupervised clustering is of central importance for the analysis of these data, as it is used to identify putative cell types. However, there are many challenges involved. We discuss why clustering is a challenging problem from a computational point of view and what aspects of the data make it challenging. We also consider the difficulties related to the biological interpretation and annotation of the identified clusters...
January 7, 2019: Nature Reviews. Genetics
https://read.qxmd.com/read/30581192/the-role-of-sex-in-the-genomics-of-human-complex-traits
#14
REVIEW
Ekaterina A Khramtsova, Lea K Davis, Barbara E Stranger
Nearly all human complex traits and disease phenotypes exhibit some degree of sex differences, including differences in prevalence, age of onset, severity or disease progression. Until recently, the underlying genetic mechanisms of such sex differences have been largely unexplored. Advances in genomic technologies and analytical approaches are now enabling a deeper investigation into the effect of sex on human health traits. In this Review, we discuss recent insights into the genetic models and mechanisms that lead to sex differences in complex traits...
December 23, 2018: Nature Reviews. Genetics
https://read.qxmd.com/read/30575812/genome-editing-for-disease-locus-dissection
#15
Darren J Burgess
No abstract text is available yet for this article.
December 21, 2018: Nature Reviews. Genetics
https://read.qxmd.com/read/30573849/mechanisms-regulating-zygotic-genome-activation
#16
REVIEW
Katharine N Schulz, Melissa M Harrison
Following fertilization, the two specified gametes must unite to create an entirely new organism. The genome is initially transcriptionally quiescent, allowing the zygote to be reprogrammed into a totipotent state. Gradually, the genome is activated through a process known as the maternal-to-zygotic transition, which enables zygotic gene products to replace the maternal supply that initiated development. This essential transition has been broadly characterized through decades of research in several model organisms...
December 20, 2018: Nature Reviews. Genetics
https://read.qxmd.com/read/30563980/synthetic-readers-and-writers-for-mammalian-chromatin
#17
Michelle Trenkmann
No abstract text is available yet for this article.
December 18, 2018: Nature Reviews. Genetics
https://read.qxmd.com/read/30546107/deciphering-bacterial-epigenomes-using-modern-sequencing-technologies
#18
REVIEW
John Beaulaurier, Eric E Schadt, Gang Fang
Prokaryotic DNA contains three types of methylation: N6-methyladenine, N4-methylcytosine and 5-methylcytosine. The lack of tools to analyse the frequency and distribution of methylated residues in bacterial genomes has prevented a full understanding of their functions. Now, advances in DNA sequencing technology, including single-molecule, real-time sequencing and nanopore-based sequencing, have provided new opportunities for systematic detection of all three forms of methylated DNA at a genome-wide scale and offer unprecedented opportunities for achieving a more complete understanding of bacterial epigenomes...
December 13, 2018: Nature Reviews. Genetics
https://read.qxmd.com/read/30542211/proximity-clip-close-encounters-of-the-rna-kind
#19
Linda Koch
No abstract text is available yet for this article.
December 12, 2018: Nature Reviews. Genetics
https://read.qxmd.com/read/30532079/risk-loci-for-adhd
#20
Dorothy Clyde
No abstract text is available yet for this article.
December 7, 2018: Nature Reviews. Genetics
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