Common DNA sequence variation influences 3-dimensional conformation of the human genome.

BACKGROUND:The 3-dimensional (3D) conformation of chromatin inside the nucleus is integral to a variety of nuclear processes including transcriptional regulation, DNA replication, and DNA damage repair. Aberrations in 3D chromatin conformation have been implicated in developmental abnormalities and cancer. Despite the importance of 3D chromatin conformation to cellular function and human health, little is known about how 3D chromatin conformation varies in the human population, or whether DNA sequence variation between individuals influences 3D chromatin conformation. RESULTS:To address these questions, we perform Hi-C on lymphoblastoid cell lines from 20 individuals. We identify thousands of regions across the genome where 3D chromatin conformation varies between individuals and find that this variation is often accompanied by variation in gene expression, histone modifications, and transcription factor binding. Moreover, we find that DNA sequence variation influences several features of 3D chromatin conformation including loop strength, contact insulation, contact directionality, and density of local cis contacts. We map hundreds of quantitative trait loci associated with 3D chromatin features and find evidence that some of these same variants are associated at modest levels with other molecular phenotypes as well as complex disease risk. CONCLUSION:Our results demonstrate that common DNA sequence variants can influence 3D chromatin conformation, pointing to a more pervasive role for 3D chromatin conformation in human phenotypic variation than previously recognized

Enhanced spin triplet superconductivity due to Kondo destabilization

In a Kondo lattice system, suppression of effective Kondo coupling leads to the breakdown of the heavy-electron metal and a change in the electronic structure. Spin triplet superconductivity in the Kondo lattice UTe2 appears to be associated with spin fluctuations originating from incipient ferromagnetic order. Here we show clear evidence of twofold enhancement of spin-triplet superconductivity near the pressure-driven suppression of the Kondo coherence, implying that superconductivity is strengthened by the affiliated growth of both spin and charge fluctuations. The coherent Kondo state discontinuously transitions to ferromagnetic order at higher pressures. Application of magnetic field tunes the system back across a first-order phase boundary. Straddling this phase boundary, we find another example of reentrant superconductivity in UTe2. In addition to spin fluctuations associated with ferromagnetism, our results show that a Kondo-driven Fermi surface instability may be playing a role in stabilizing spin triplet superconductivity

Enhancement and Reentrance of Spin Triplet Superconductivity in UTe₂ under Pressure

Spin triplet superconductivity in the Kondo lattice UTe2 appears to be associated with spin fluctuations originating from incipient ferromagnetic order. Here we show clear evidence of twofold enhancement of superconductivity under pressure, which discontinuously transitions to magnetic order, likely of ferromagnetic nature, at higher pressures. The application of a magnetic field tunes the system back across a first-order phase boundary. Straddling this phase boundary, we find another example of reentrant superconductivity in UTe2. As the superconductivity and magnetism exist on two opposite sides of the first-order phase boundary, our results indicate other microscopic mechanisms may be playing a role in stabilizing spin triplet superconductivity in addition to spin fluctuations associated with magnetism

Quantum Oscillations from Networked Topological Interfaces in a Weyl Semimetal

Layered transition metal chalcogenides are promising hosts of electronic Weyl nodes and topological superconductivity. MoTe2 is a striking example that harbors both noncentrosymmetric Td and centrosymmetric T\u27 phases, both of which have been identified as topologically nontrivial. Applied pressure tunes the structural transition separating these phases to zero temperature, stabilizing a mixed Td–T\u27 matrix that entails a network of interfaces between the two nontrivial topological phases. Here, we show that this critical pressure range is characterized by distinct coherent quantum oscillations, indicating that the difference in topology between topologically nonvtrivial Td and T\u27 phases gives rise to an emergent electronic structure: a network of topological interfaces. A rare combination of topologically nontrivial electronic structures and locked-in transformation barriers leads to this counterintuitive situation, wherein quantum oscillations can be observed in a structurally inhomogeneous material. These results further open the possibility of stabilizing multiple topological phases coexisting with superconductivity

Quantum-critical scale invariance in a transition metal alloy

Quantum-mechanical fluctuations between competing phases induce exotic collective excitations that exhibit anomalous behavior in transport and thermodynamic properties, and are often intimately linked to the appearance of unconventional Cooper pairing. High-temperature superconductivity, however, makes it difficult to assess the role of quantum-critical fluctuations in shaping anomalous finite-temperature physical properties. Here we report temperature-field scale invariance of non-Fermi liquid thermodynamic, transport, and Hall quantities in a non-superconducting iron-pnictide, Ba(Fe1/3Co1/3Ni1/3)2As2, indicative of quantum criticality at zero temperature and applied magnetic field. Beyond a linear-in-temperature resistivity, the hallmark signature of strong quasiparticle scattering, we find a scattering rate that obeys a universal scaling relation between temperature and applied magnetic fields down to the lowest energy scales. Together with the dominance of hole-like carriers close to the zero-temperature and zero-field limits, the scale invariance, isotropic field response, and lack of applied pressure sensitivity suggests a unique quantum critical system unhindered by a pairing instability

C -Axis Transport in Ute2: Evidence of Three-Dimensional Conductivity Component

We study the temperature dependence of electrical resistivity for currents directed along all crystallographic axes of the spin-triplet superconductor UTe2. We focus particularly on an accurate determination of the resistivity along the c axis (ρc) by using a generalized Montgomery technique that allows extraction of crystallographic resistivity components from a single sample. In contrast to expectations from the observed highly anisotropic band structure, our measurement of the absolute values of resistivities in all current directions reveals a surprisingly nearly isotropic transport behavior at temperatures above Kondo coherence, with ρc∼ρb∼2ρa, that evolves to reveal qualitatively distinct behaviors on cooling. The temperature dependence of ρc exhibits a peak at a temperature much lower than the onset of Kondo coherence observed in ρa and ρb, consistent with features in magneto transport and magnetization that point to a magnetic origin. A comparison to the temperature-dependent evolution of the scattering rate observed in angle-resolved photoemission spectroscopy experiments provides important insights into the underlying electronic structure necessary for building a microscopic model of superconductivity in UTe2