Structural variation in the 3D genome
Structural and quantitative chromosomal rearrangements, collectively referred to as
structural variation (SV), contribute to a large extent to the genetic diversity of the human …
structural variation (SV), contribute to a large extent to the genetic diversity of the human …
Evolution to the rescue: using comparative genomics to understand long non-coding RNAs
I Ulitsky - Nature Reviews Genetics, 2016 - nature.com
Long non-coding RNAs (lncRNAs) have emerged in recent years as major players in a
multitude of pathways across species, but it remains challenging to understand which of …
multitude of pathways across species, but it remains challenging to understand which of …
Developmental dynamics of lncRNAs across mammalian organs and species
Although many long noncoding RNAs (lncRNAs) have been identified in human and other
mammalian genomes, there has been limited systematic functional characterization of these …
mammalian genomes, there has been limited systematic functional characterization of these …
Sequence determinants of human gene regulatory elements
DNA can determine where and when genes are expressed, but the full set of sequence
determinants that control gene expression is unknown. Here, we measured the …
determinants that control gene expression is unknown. Here, we measured the …
Formation of new chromatin domains determines pathogenicity of genomic duplications
Chromosome conformation capture methods have identified subchromosomal structures of
higher-order chromatin interactions called topologically associated domains (TADs) that are …
higher-order chromatin interactions called topologically associated domains (TADs) that are …
Transcriptional enhancers: from properties to genome-wide predictions
Cellular development, morphology and function are governed by precise patterns of gene
expression. These are established by the coordinated action of genomic regulatory …
expression. These are established by the coordinated action of genomic regulatory …
Transcription factors: from enhancer binding to developmental control
F Spitz, EEM Furlong - Nature reviews genetics, 2012 - nature.com
Developmental progression is driven by specific spatiotemporal domains of gene
expression, which give rise to stereotypically patterned embryos even in the presence of …
expression, which give rise to stereotypically patterned embryos even in the presence of …
Spatial partitioning of the regulatory landscape of the X-inactivation centre
In eukaryotes transcriptional regulation often involves multiple long-range elements and is
influenced by the genomic environment. A prime example of this concerns the mouse X …
influenced by the genomic environment. A prime example of this concerns the mouse X …
Regulation of disease-associated gene expression in the 3D genome
PHL Krijger, W De Laat - Nature reviews Molecular cell biology, 2016 - nature.com
Genetic variation associated with disease often appears in non-coding parts of the genome.
Understanding the mechanisms by which this phenomenon leads to disease is necessary to …
Understanding the mechanisms by which this phenomenon leads to disease is necessary to …
Functional dissection of the Sox9–Kcnj2 locus identifies nonessential and instructive roles of TAD architecture
A Despang, R Schöpflin, M Franke, S Ali, I Jerković… - Nature …, 2019 - nature.com
The genome is organized in three-dimensional units called topologically associating
domains (TADs), through a process dependent on the cooperative action of cohesin and the …
domains (TADs), through a process dependent on the cooperative action of cohesin and the …