Black Holes, Qubits and Octonions

We review the recently established relationships between black hole entropy in string theory and the quantum entanglement of qubits and qutrits in quantum information theory. The first example is provided by the measure of the tripartite entanglement of three qubits, known as the 3-tangle, and the entropy of the 8-charge STU black hole of N=2 supergravity, both of which are given by the [SL(2)]^3 invariant hyperdeterminant, a quantity first introduced by Cayley in 1845. There are further relationships between the attractor mechanism and local distillation protocols. At the microscopic level, the black holes are described by intersecting D3-branes whose wrapping around the six compact dimensions T^6 provides the string-theoretic interpretation of the charges and we associate the three-qubit basis vectors, |ABC> (A,B,C=0 or 1), with the corresponding 8 wrapping cycles. The black hole/qubit correspondence extends to the 56 charge N=8 black holes and the tripartite entanglement of seven qubits where the measure is provided by Cartan's E_7 supset [SL(2)]^7 invariant. The qubits are naturally described by the seven vertices ABCDEFG of the Fano plane, which provides the multiplication table of the seven imaginary octonions, reflecting the fact that E_7 has a natural structure of an O-graded algebra. This in turn provides a novel imaginary octonionic interpretation of the 56=7 x 8 charges of N=8: the 24=3 x 8 NS-NS charges correspond to the three imaginary quaternions and the 32=4 x 8 R-R to the four complementary imaginary octonions. N=8 black holes (or black strings) in five dimensions are also related to the bipartite entanglement of three qutrits (3-state systems), where the analogous measure is Cartan's E_6 supset [SL(3)]^3 invariant.Comment: Version to appear in Physics Reports, including previously omitted new results on small STU black hole charge orbits and expanded bibliography. 145 pages, 15 figures, 41 table

Inclusive pion double charge exchange on Oxygen(16) at 0.6-1.1 GeV

The inclusive pion double charge exchange (DCX) on oxygen nuclei has been measured in the region where additional pion production is kinematically forbidden. The experiment was performed at ITEP PS at incident pi- kinetic energies T_0= 0.59, 0.75 and 1.1 GeV. The integrated forward differential cross section was found to decrease with energy slowly. At 1.1 GeV it exceeds the theoretical prediction within the conventional sequential single charge exchange mechanism with a neutral pion in the intermediate state (Glauber elastic rescattering) by about half an order of magnitude. The sequential mechanism with two pions in the intermediate state (Glauber inelastic rescatterings), which was proposed recently, seems to be able to explain the observed slow energy dependence and allows to predict the DCX cross section for higher energies.Comment: 27 pages, 13 figures. Minor corrections, one figure added. Accepted in NP

Molecular structure and developmental expression of zebrafish atp2a genes

[[abstract]]We isolated two atp2a genes, atp2a1 and atp2a2a, from embryonic zebrafish. Amino acid sequences deduced from zebrafish atp2a genes are aligned with orthologue proteins from other species, the results showed that they share high percentage of identities (82%–94%) and acidic pIs (5.03–5.33). Whole mount in situ hybridization experiments showed that atp2a1 and atp2a2a are maternal inherited genes which can be detected at 1-cell stage embryos and express in the entire animal pole from 6 hours post-fertilization (hpf) to 12 hpf. At the later stages (48–96 hpf), expression of atp2a1 was restricted in head and trunk muscles as well as in some neurons. In contrast to the strongly expression of atp2a1 in head muscle, expression of atp2a2a was detected in head muscle in a fainter manner. In addition, transcripts of atp2a2a were observed in the developing heart during early cardiogenesis. The present studies not only help us to comparatively analyze atp2a genes across species, but also provide useful information about expressions during early embryogenesis that will help in further investigations of functional studies of Atp2a in the future.[[incitationindex]]SCI[[booktype]]紙

The Physiology of Vasodilatation

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/68237/2/10.1177_000331976101200602.pd

Exome sequencing identifies variants in infants with sacral agenesis

Background: Sacral agenesis (SA) consists of partial or complete absence of the caudal end of the spine and often presents with additional birth defects. Several studies have examined gene variants for syndromic forms of SA, but only one has examined exomes of children with non-syndromic SA. Methods: Using buccal cell specimens from families of children with non-syndromic SA, exomes of 28 child–parent trios (eight with and 20 without a maternal diagnosis of pregestational diabetes) and two child–father duos (neither with diagnosis of maternal pregestational diabetes) were exome sequenced. Results: Three children had heterozygous missense variants in ID1 (Inhibitor of DNA Binding 1), with CADD scores >20 (top 1% of deleterious variants in the genome); two children inherited the variant from their fathers and one from the child's mother. Rare missense variants were also detected in PDZD2 (PDZ Domain Containing 2; N = 1) and SPTBN5 (Spectrin Beta, Non-erythrocytic 5; N = 2), two genes previously suggested to be associated with SA etiology. Examination of variants with autosomal recessive and X-linked recessive inheritance identified five and two missense variants, respectively. Compound heterozygous variants were identified in several genes. In addition, 12 de novo variants were identified, all in different genes in different children. Conclusions: To our knowledge, this is the first study reporting a possible association between ID1 and non-syndromic SA. Although maternal pregestational diabetes has been strongly associated with SA, the missense variants in ID1 identified in two of three children were paternally inherited. These findings add to the knowledge of gene variants associated with non-syndromic SA and provide data for future studies

Exome sequencing identifies genetic variants in anophthalmia and microphthalmia

Anophthalmia and microphthalmia (A/M) are rare birth defects affecting up to 2 per 10,000 live births. These conditions are manifested by the absence of an eye or reduced eye volumes within the orbit leading to vision loss. Although clinical case series suggest a strong genetic component in A/M, few systematic investigations have been conducted on potential genetic contributions owing to low population prevalence. To overcome this challenge, we utilized DNA samples and data collected as part of the National Birth Defects Prevention Study (NBDPS). The NBDPS employed multi-center ascertainment of infants affected by A/M. We performed exome sequencing on 67 family trios and identified numerous genes affected by rare deleterious nonsense and missense variants in this cohort, including de novo variants. We identified 9 nonsense changes and 86 missense variants that are absent from the reference human population (Genome Aggregation Database), and we suggest that these are high priority candidate genes for A/M. We also performed literature curation, single cell transcriptome comparisons, and molecular pathway analysis on the candidate genes and performed protein structure modeling to determine the potential pathogenic variant consequences on PAX6 in this disease

Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function

Nearly 100 loci have been identified for pulmonary function, almost exclusively in studies of European ancestry populations. We extend previous research by meta-analyzing genome-wide association studies of 1000 Genomes imputed variants in relation to pulmonary function in a multiethnic population of 90,715 individuals of European (N = 60,552), African (N = 8429), Asian (N = 9959), and Hispanic/Latino (N = 11,775) ethnicities. We identify over 50 additional loci at genome-wide significance in ancestry-specific or multiethnic meta-analyses. Using recent fine-mapping methods incorporating functional annotation, gene expression, and differences in linkage disequilibrium between ethnicities, we further shed light on potential causal variants and genes at known and newly identified loci. Several of the novel genes encode proteins with predicted or established drug targets, including KCNK2 and CDK12. Our study highlights the utility of multiethnic and integrative genomics approaches to extend existing knowledge of the genetics of l

Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data

Background: The National Birth Defects Prevention Study (NBDPS) is a multisite, population-based, case–control study of genetic and nongenetic risk factors for major structural birth defects. Eligible women had a pregnancy affected by a birth defect or a liveborn child without a birth defect between 1997 and 2011. They were invited to complete a telephone interview to collect pregnancy exposure data and were mailed buccal cell collection kits to collect specimens from themselves, their child (if living), and their child's father. Over 23,000 families representing more than 30 major structural birth defects provided DNA specimens. Methods: To evaluate their utility for exome sequencing (ES), specimens from 20 children with colonic atresia were studied. Evaluations were conducted on specimens collected using cytobrushes stored and transported in open versus closed packaging, on native genomic DNA (gDNA) versus whole genome amplified (WGA) products and on a library preparation protocol adapted to low amounts of DNA. Results: The DNA extracted from brushes in open packaging yielded higher quality sequence data than DNA from brushes in closed packaging. Quality metrics of sequenced gDNA were consistently higher than metrics from corresponding WGA products and were consistently high when using a low input protocol. Conclusions: This proof-of-principle study established conditions under which ES can be applied to NBDPS specimens. Successful sequencing of exomes from well-characterized NBDPS families indicated that this unique collection can be used to investigate the roles of genetic variation and gene–environment interaction effects in birth defect etiologies, providing a valuable resource for birth defect researchers