45 research outputs found
Electronic Origin of High Temperature Superconductivity in Single-Layer FeSe Superconductor
The latest discovery of high temperature superconductivity signature in
single-layer FeSe is significant because it is possible to break the
superconducting critical temperature ceiling (maximum Tc~55 K) that has been
stagnant since the discovery of Fe-based superconductivity in 2008. It also
blows the superconductivity community by surprise because such a high Tc is
unexpected in FeSe system with the bulk FeSe exhibiting a Tc at only 8 K at
ambient pressure which can be enhanced to 38 K under high pressure. The Tc is
still unusually high even considering the newly-discovered intercalated FeSe
system A_xFe_{2-y}Se_2 (A=K, Cs, Rb and Tl) with a Tc at 32 K at ambient
pressure and possible Tc near 48 K under high pressure. Particularly
interesting is that such a high temperature superconductivity occurs in a
single-layer FeSe system that is considered as a key building block of the
Fe-based superconductors. Understanding the origin of high temperature
superconductivity in such a strictly two-dimensional FeSe system is crucial to
understanding the superconductivity mechanism in Fe-based superconductors in
particular, and providing key insights on how to achieve high temperature
superconductivity in general. Here we report distinct electronic structure
associated with the single-layer FeSe superconductor. Its Fermi surface
topology is different from other Fe-based superconductors; it consists only of
electron pockets near the zone corner without indication of any Fermi surface
around the zone center. Our observation of large and nearly isotropic
superconducting gap in this strictly two-dimensional system rules out existence
of node in the superconducting gap. These results have provided an unambiguous
case that such a unique electronic structure is favorable for realizing high
temperature superconductivity
Heavily electron-doped electronic structure and isotropic superconducting gap in AxFe2Se2 (A=K,Cs)
The low energy band structure and Fermi surface of the newly discovered
superconductor, AxFe2Se2 (A=K,Cs), have been studied by angle-resolved
photoemission spectroscopy. Compared with iron pnictide superconductors,
AxFe2Se2 (A=K,Cs) is the most heavily electron-doped with Tc~30 K. Only
electron pockets are observed with an almost isotropic superconducting gap of
~10.3 meV, while there is no hole Fermi surface near the zone center, which
indicates the inter-pocket hopping or Fermi surface nesting is not a necessary
ingredient for the unconventional superconductivity in iron-based
superconductors. Thus, the sign changed s pairing symmetry, a leading
candidate proposed for iron-based superconductors, becomes conceptually
irrelevant in describing the superconducting state here. A more conventional
s-wave pairing is a better description.Comment: 4 pages, 4 figures, published online in Nature Materials 201
Symmetry and Topology in Superconductors - Odd-frequency pairing and edge states -
Superconductivity is a phenomenon where the macroscopic quantum coherence
appears due to the pairing of electrons. This offers a fascinating arena to
study the physics of broken gauge symmetry. However, the important symmetries
in superconductors are not only the gauge invariance. Especially, the symmetry
properties of the pairing, i.e., the parity and spin-singlet/spin-triplet,
determine the physical properties of the superconducting state. Recently it has
been recognized that there is the important third symmetry of the pair
amplitude, i.e., even or odd parity with respect to the frequency. The
conventional uniform superconducting states correspond to the even-frequency
pairing, but the recent finding is that the odd-frequency pair amplitude arises
in the spatially non-uniform situation quite ubiquitously. Especially, this is
the case in the Andreev bound state (ABS) appearing at the surface/interface of
the sample. The other important recent development is on the nontrivial
topological aspects of superconductors. As the band insulators are classified
by topological indices into (i) conventional insulator, (ii) quantum Hall
insulator, and (iii) topological insulator, also are the gapped
superconductors. The influence of the nontrivial topology of the bulk states
appears as the edge or surface of the sample. In the superconductors, this
leads to the formation of zero energy ABS (ZEABS). Therefore, the ABSs of the
superconductors are the place where the symmetry and topology meet each other
which offer the stage of rich physics. In this review, we discuss the physics
of ABS from the viewpoint of the odd-frequency pairing, the topological
bulk-edge correspondence, and the interplay of these two issues. It is
described how the symmetry of the pairing and topological indices determines
the absence/presence of the ZEABS, its energy dispersion, and properties as the
Majorana fermions.Comment: 91 pages, 38 figures, Review article, references adde
Repair-Mediated Duplication by Capture of Proximal Chromosomal DNA Has Shaped Vertebrate Genome Evolution
DNA double-strand breaks (DSBs) are a common form of cellular damage that can lead to cell death if not repaired promptly. Experimental systems have shown that DSB repair in eukaryotic cells is often imperfect and may result in the insertion of extra chromosomal DNA or the duplication of existing DNA at the breakpoint. These events are thought to be a source of genomic instability and human diseases, but it is unclear whether they have contributed significantly to genome evolution. Here we developed an innovative computational pipeline that takes advantage of the repetitive structure of genomes to detect repair-mediated duplication events (RDs) that occurred in the germline and created insertions of at least 50 bp of genomic DNA. Using this pipeline we identified over 1,000 probable RDs in the human genome. Of these, 824 were intra-chromosomal, closely linked duplications of up to 619 bp bearing the hallmarks of the synthesis-dependent strand-annealing repair pathway. This mechanism has duplicated hundreds of sequences predicted to be functional in the human genome, including exons, UTRs, intron splice sites and transcription factor binding sites. Dating of the duplication events using comparative genomics and experimental validation revealed that the mechanism has operated continuously but with decreasing intensity throughout primate evolution. The mechanism has produced species-specific duplications in all primate species surveyed and is contributing to genomic variation among humans. Finally, we show that RDs have also occurred, albeit at a lower frequency, in non-primate mammals and other vertebrates, indicating that this mechanism has been an important force shaping vertebrate genome evolution
Rare disruptive variants in the DISC1 Interactome and Regulome : association with cognitive ability and schizophrenia
Schizophrenia (SCZ), bipolar disorder (BD) and recurrent major depressive disorder (rMDD) are common psychiatric illnesses. All have been associated with lower cognitive ability, and show evidence of genetic overlap and substantial evidence of pleiotropy with cognitive function and neuroticism. Disrupted in schizophrenia 1 (DISC1) protein directly interacts with a large set of proteins (DISC1 Interactome) that are involved in brain development and signaling. Modulation of DISC1 expression alters the expression of a circumscribed set of genes (DISC1 Regulome) that are also implicated in brain biology and disorder. Here we report targeted sequencing of 59 DISC1 Interactome genes and 154 Regulome genes in 654 psychiatric patients and 889 cognitively-phenotyped control subjects, on whom we previously reported evidence for trait association from complete sequencing of the DISC1 locus. Burden analyses of rare and singleton variants predicted to be damaging were performed for psychiatric disorders, cognitive variables and personality traits. The DISC1 Interactome and Regulome showed differential association across the phenotypes tested. After family-wise error correction across all traits (FWERacross), an increased burden of singleton disruptive variants in the Regulome was associated with SCZ (FWERacross P=0.0339). The burden of singleton disruptive variants in the DISC1 Interactome was associated with low cognitive ability at age 11 (FWERacross P=0.0043). These results identify altered regulation of schizophrenia candidate genes by DISC1 and its core Interactome as an alternate pathway for schizophrenia risk, consistent with the emerging effects of rare copy number variants associated with intellectual disability.Peer reviewe
Following the genes: a framework for animal modeling of psychiatric disorders
The number of individual cases of psychiatric disorders that can be ascribed to identified, rare, single mutations is increasing with great rapidity. Such mutations can be recapitulated in mice to generate animal models with direct etiological validity. Defining the underlying pathogenic mechanisms will require an experimental and theoretical framework to make the links from mutation to altered behavior in an animal or psychopathology in a human. Here, we discuss key elements of such a framework, including cell type-based phenotyping, developmental trajectories, linking circuit properties at micro and macro scales and definition of neurobiological phenotypes that are directly translatable to humans
Finishing the euchromatic sequence of the human genome
The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead
Rediscovering the value of families for psychiatric genetics research
As it is likely that both common and rare genetic variation are important for complex disease risk, studies that examine the full range of the allelic frequency distribution should be utilized to dissect the genetic influences on mental illness. The rate limiting factor for inferring an association between a variant and a phenotype is inevitably the total number of copies of the minor allele captured in the studied sample. For rare variation, with minor allele frequencies of 0.5% or less, very large samples of unrelated individuals are necessary to unambiguously associate a locus with an illness. Unfortunately, such large samples are often cost prohibitive. However, by using alternative analytic strategies and studying related individuals, particularly those from large multiplex families, it is possible to reduce the required sample size while maintaining statistical power. We contend that using whole genome sequence (WGS) in extended pedigrees provides a cost-effective strategy for psychiatric gene mapping that complements common variant approaches and WGS in unrelated individuals. This was our impetus for forming the “Pedigree-Based Whole Genome Sequencing of Affective and Psychotic Disorders” consortium. In this review, we provide a rationale for the use of WGS with pedigrees in modern psychiatric genetics research. We begin with a focused review of the current literature, followed by a short history of family-based research in psychiatry. Next, we describe several advantages of pedigrees for WGS research, including power estimates, methods for studying the environment, and endophenotypes. We conclude with a brief description of our consortium and its goals.This research was supported by National Institute of Mental Health grants U01 MH105630 (DCG), U01 MH105634 (REG), U01 MH105632 (JB), R01 MH078143 (DCG), R01 MH083824 (DCG & JB), R01 MH078111 (JB), R01 MH061622 (LA), R01 MH042191 (REG), and R01 MH063480 (VLN).UCR::Vicerrectoría de Investigación::Unidades de Investigación::Ciencias Básicas::Centro de Investigación en Biología Celular y Molecular (CIBCM)UCR::Vicerrectoría de Docencia::Ciencias Básicas::Facultad de Ciencias::Escuela de Biologí