62 research outputs found
Characterization of the Drosophila Ortholog of the Human Usher Syndrome Type 1G Protein Sans
BACKGROUND: The Usher syndrome (USH) is the most frequent deaf-blindness hereditary disease in humans. Deafness is attributed to the disorganization of stereocilia in the inner ear. USH1, the most severe subtype, is associated with mutations in genes encoding myosin VIIa, harmonin, cadherin 23, protocadherin 15, and sans. Myosin VIIa, harmonin, cadherin 23, and protocadherin 15 physically interact in vitro and localize to stereocilia tips in vivo, indicating that they form functional complexes. Sans, in contrast, localizes to vesicle-like structures beneath the apical membrane of stereocilia-displaying hair cells. How mutations in sans result in deafness and blindness is not well understood. Orthologs of myosin VIIa and protocadherin 15 have been identified in Drosophila melanogaster and their genetic analysis has identified essential roles in auditory perception and microvilli morphogenesis, respectively. PRINCIPAL FINDINGS: Here, we have identified and characterized the Drosophila ortholog of human sans. Drosophila Sans is expressed in tubular organs of the embryo, in lens-secreting cone cells of the adult eye, and in microvilli-displaying follicle cells during oogenesis. Sans mutants are viable, fertile, and mutant follicle cells appear to form microvilli, indicating that Sans is dispensable for fly development and microvilli morphogenesis in the follicle epithelium. In follicle cells, Sans protein localizes, similar to its vertebrate ortholog, to intracellular punctate structures, which we have identified as early endosomes associated with the syntaxin Avalanche. CONCLUSIONS: Our work is consistent with an evolutionary conserved function of Sans in vesicle trafficking. Furthermore it provides a significant basis for further understanding of the role of this Usher syndrome ortholog in development and disease
Liquid-gas phase transition in nuclear multifragmentation
The equation of state of nuclear matter suggests that at suitable beam
energies the disassembling hot system formed in heavy ion collisions will pass
through a liquid-gas coexistence region. Searching for the signatures of the
phase transition has been a very important focal point of experimental
endeavours in heavy ion collisions, in the last fifteen years. Simultaneously
theoretical models have been developed to provide information about the
equation of state and reaction mechanisms consistent with the experimental
observables. This article is a review of this endeavour.Comment: 63 pages, 27 figures, submitted to Adv. Nucl. Phys. Some typos
corrected, minor text change
Search for Gravitational Waves from Intermediate Mass Binary Black Holes
We present the results of a weakly modeled burst search for gravitational
waves from mergers of non-spinning intermediate mass black holes (IMBH) in the
total mass range 100--450 solar masses and with the component mass ratios
between 1:1 and 4:1. The search was conducted on data collected by the LIGO and
Virgo detectors between November of 2005 and October of 2007. No plausible
signals were observed by the search which constrains the astrophysical rates of
the IMBH mergers as a function of the component masses. In the most efficiently
detected bin centered on 88+88 solar masses, for non-spinning sources, the rate
density upper limit is 0.13 per Mpc^3 per Myr at the 90% confidence level.Comment: 13 pages, 4 figures: data for plots and archived public version at
https://dcc.ligo.org/cgi-bin/DocDB/ShowDocument?docid=62326, see also the
public announcement at http://www.ligo.org/science/Publication-S5IMBH
Comparing Tsallis and Boltzmann temperatures from relativistic heavy ion collider and large hadron collider heavy-ion data
Tropical forest and mangrove history from southeastern Mexico: a 5000 yr pollen record and implications for sea level rise
Stability evaluation method for hyperbolic coal pillars under the coupling effects of high temperature and ground stress
The Cellular Function of the Usher Gene Product Myosin VIIa is Specified by Its Ligands
form of combined blind- and deafness ( ≈ 50 % of cases in the developed countries). USH designates a group of clinically and genetically heterogeneous disorders with hearing loss and retinitis pigmentosa (RP). Thre
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