Bardet-Biedl syndrome is a genetically and clinically heterogeneous disorder caused by mutations in at least seven loci (BBS1-7), five of which are cloned (BBS1, BBS2, BBS4, BBS6, and BBS7). Genetic ...and mutational analyses have indicated that, in some families, a combination of three mutant alleles at two loci (triallelic inheritance) is necessary for pathogenesis. To date, four of the five known BBS loci have been implicated in this mode of oligogenic disease transmission. We present a comprehensive analysis of the spectrum, distribution, and involvement in non-Mendelian trait transmission of mutant alleles in BBS1, the most common BBS locus. Analyses of 259 independent families segregating a BBS phenotype indicate that BBS1 participates in complex inheritance and that, in different families, mutations in BBS1 can interact genetically with mutations at each of the other known BBS genes, as well as at unknown loci, to cause the phenotype. Consistent with this model, we identified homozygous M390R alleles, the most frequent BBS1 mutation, in asymptomatic individuals in two families. Moreover, our statistical analyses indicate that the prevalence of the M390R allele in the general population is consistent with an oligogenic rather than a recessive model of disease transmission. The distribution of BBS oligogenic alleles also indicates that all BBS loci might interact genetically with each other, but some genes, especially BBS2 and BBS6, are more likely to participate in triallelic inheritance, suggesting a variable ability of the BBS proteins to interact genetically with each other.
The most rapidly evolving regions of galaxies often display complex optical spectra with emission lines excited by massive stars, shocks and accretion onto supermassive black holes. Standard ...calibrations (such as for the star formation rate) cannot be applied to such mixed spectra. In this paper we isolate the contributions of star formation, shock excitation and active galactic nucleus (AGN) activity to the emission line luminosities of individual spatially resolved regions across the central 3 \(\times\) 3 kpc\(^2\) region of the active barred spiral galaxy NGC\(\sim\)613. The star formation rate and AGN luminosity calculated from the decomposed emission line maps are in close agreement with independent estimates from data at other wavelengths. The star formation component traces the B-band stellar continuum emission, and the AGN component forms an ionization cone which is aligned with the nuclear radio jet. The optical line emission associated with shock excitation is cospatial with strong \(H_2\) and Fe II emission and with regions of high ionized gas velocity dispersion (\(\sigma > 100\) km s\(^{-1}\)). The shock component also traces the outer boundary of the AGN ionization cone and may therefore be produced by outflowing material interacting with the surrounding interstellar medium. Our decomposition method makes it possible to determine the properties of star formation, shock excitation and AGN activity from optical spectra, without contamination from other ionization mechanisms.
The optical spectra of Seyfert galaxies are often dominated by emission lines excited by both star formation and AGN activity. Standard calibrations (such as for the star formation rate) are not ...applicable to such composite (mixed) spectra. In this paper, we describe how integral field data can be used to spectrally and spatially separate emission associated with star formation from emission associated with accretion onto an active galactic nucleus (AGN). We demonstrate our method using integral field data for two AGN host galaxies (NGC 5728 and NGC 7679) from the Siding Spring Southern Seyfert Spectroscopic Snapshot Survey (S7). The spectra of NGC 5728 and NGC 7679 form clear sequences of AGN fraction on standard emission line ratio diagnostic diagrams. We show that the emission line luminosities of the majority (> 85 per cent) of spectra along each AGN fraction sequence can be reproduced by linear superpositions of the emission line luminosities of one AGN dominated spectrum and one star formation dominated spectrum. We separate the Halpha, Hbeta, N II\(\lambda\)6583, S II\(\lambda \lambda\)6716, 6731, O III\(\lambda\)5007 and O II\(\lambda \lambda\)3726, 3729 luminosities of every spaxel into contributions from star formation and AGN activity. The decomposed emission line images are used to derive the star formation rates and AGN bolometric luminosities for NGC 5728 and NGC 7679. Our calculated values are mostly consistent with independent estimates from data at other wavelengths. The recovered star forming and AGN components also have distinct spatial distributions which trace structures seen in high resolution imaging of the galaxies, providing independent confirmation that our decomposition has been successful.
We investigate the relative significance of radiation pressure and gas pressure in the extended narrow line regions (ENLRs) of four Seyfert galaxies from the integral field Siding Spring Southern ...Seyfert Spectroscopic Snapshot Survey (S7). We demonstrate that there exist two distinct types of starburst-AGN mixing curves on standard emission line diagnostic diagrams which reflect the balance between gas pressure and radiation pressure in the ENLR. In two of the galaxies the ENLR is radiation pressure dominated throughout and the ionization parameter remains constant (log U ~ 0). In the other two galaxies radiation pressure is initially important, but gas pressure becomes dominant as the ionization parameter in the ENLR decreases from log U ~ 0 to -3.4 <= log U <= -3.2. Where radiation pressure is dominant, the AGN regulates the density of the interstellar medium on kpc scales and may therefore have a direct impact on star formation activity and/or the incidence of outflows in the host galaxy to scales far beyond the zone of influence of the black hole. We find that both radiation pressure dominated and gas pressure dominated ENLRs are dynamically active with evidence for outflows, indicating that radiation pressure may be an important source of AGN feedback even when it is not dominant over the entire ENLR.
We present Wide Field Spectrograph (WiFeS) integral field spectroscopy and HST FOS spectroscopy for the LINER galaxy NGC 1052. We infer the presence of a turbulent accretion flow forming a ...small-scale accretion disk. We find a large-scale outflow and ionisation cone along the minor axis of the galaxy. Part of this outflow region is photoionised by the AGN, and shares properties with the ENLR of Seyfert galaxies, but the inner (\(R \lesssim 1.0\)~arcsec) accretion disk and the region around the radio jet appear shock excited. The emission line properties can be modelled by a "double shock" model in which the accretion flow first passes through an accretion shock in the presence of a hard X-ray radiation, and the accretion disk is then processed through a cocoon shock driven by the overpressure of the radio jets. This model explains the observation of two distinct densities (\(\sim10^4\) and \(\sim10^6\) cm\(^{-3}\)), and provides a good fit to the observed emission line spectrum. We derive estimates for the velocities of the two shock components and their mixing fractions, the black hole mass, the accretion rate needed to sustain the LINER emission and derive an estimate for the jet power. Our emission line model is remarkably robust against variation of input parameters, and so offers a generic explanation for the excitation of LINER galaxies, including those of spiral type such as NGC 3031 (M81).
This investigation assessed a difference in the dynamic balance abilities of 30 learning disabled and 30 nondisabled children of elementary-school age. Only distance traveled across the beam, a novel ...task, was significantly different between groups; no other effects were significant. Nondisabled subjects traveled further across the beam before losing balance than learning disabled children.
