Molecular characterization of six Chinese families with m.3460G > A and Leber hereditary optic neuropathy

The primary mutation m.3460G > A occurs with a very low frequency (similar to 1%) in Chinese patients with Leber hereditary optic neuropathy (LHON). Up to now, there is no comprehensive study of Chinese patients harboring this mutation. We characterized six unrelated probands with m.3460G > A in this study, which were identified from 1,626 patients with LHON or suspected with LHON. The overall penetrance of LHON (25.6% [10/39]) in four pedigrees with m.3460G > A was substantially lower than those families with m.11778G > A (33.3% [619/1859]) as reported in our previous study. Intriguingly, family Le688 with a heteroplasmic m.3460G > A presented a lower penetrance (12.5%) than the other three families with a homoplasmic mutation. There is an elevated gender bias (affected male to affected female = 4:1) in the four families with m.3460G > A compared to those LHON families with m.11778G > A (2.4:1). Complete mtDNA sequencing indicated that the six matrilines belonged to haplogroups B4d1, F2, A5b, M12a, D4b2b, and D4b2, respectively. We did not identify any potential secondary mutation(s) that will affect or be associated with the penetrance of LHON in the six probands by using an evolutionary analysis and protein secondary-structure prediction. Taken together, our results suggested that the m.3460G > A mutation occurred multiple times in Chinese LHON patients. The heteroplasmic status of mutation m.3460G > A might influence the penetrance of LHON in family Le688.

Different protein tyrosine phosphatase superfamilies resulting from different gene reading frames

Protein tyrosine phosphatases (PTPs) are comprised of two superfamilies, the phosphatase I superfamily containing a single low-molecular-weight PTP (lmwPTP) family and the phosphatase II superfamily including both the higher-molecular-weight PTP (hmwPTP) and the dual-specificity phosphatase (DSP) families. The phosphatase I and H superfamilies are often considered to be the result of convergent evolution. The PTP sequence and structure analyses indicate that lmwPTPs, hmwPTPs, and DSPs share similar structures, functions, and a common signature motif, although they have low sequence identities and a different order of active sites in sequence or a circular permutation. The results of this work suggest that lmwPTPs and hmwPTPs/DSPs are remotely related in evolution. The earliest ancestral gene of PTPs could be from a short fragment containing about 90similar to120 nucleotides or 30similar to40 residues; however, a probable full PTP ancestral gene contained one transcript unit with two lmwPTP genes. All three PTP families may have resulted from a common ancestral gene by a series of duplications, fusions, and circular permutations. The circular permutation in PTPs is caused by a reading frame difference, which is similar to that in DNA methyltransferases. Nevertheless, the evolutionary mechanism of circular permutation in PTP genes seems to be more complicated than that in DNA methyltransferase genes. Both mechanisms in PTPs and DNA methyltransferases can be used to explain how some protein families and superfamilies came to be formed by circular permutations during molecular evolution.

A reappraisal of complete mtDNA variation in East Asian families with hearing impairment

In a number of recent studies, we summarized the obvious errors and shortcomings that can be spotted in many (if not most) mitochondrial DNA (mtDNA) data sets published in medical genetics. We have reanalyzed here the complete mtDNA genome data published

Independent Transport and Sorting of Functionally Distinct Protein Families in Tetrahymena thermophila Dense Core Secretory Granules

Dense core granules (DCGs) in Tetrahymena thermophila contain two protein classes. Proteins in the first class, called granule lattice (Grl), coassemble to form a crystalline lattice within the granule lumen. Lattice expansion acts as a propulsive mechanism during DCG release, and Grl proteins are essential for efficient exocytosis. The second protein class, defined by a C-terminal beta/gamma-crystallin domain, is poorly understood. Here, we have analyzed the function and sorting of Grt1p (granule tip), which was previously identified as an abundant protein in this family. Cells lacking all copies of GRT1, together with the closely related GRT2, accumulate wild-type levels of docked DCGs. Unlike cells disrupted in any of the major GRL genes, Delta GRT1 Delta GRT2 cells show no defect in secretion, indicating that neither exocytic fusion nor core expansion depends on GRT1. These results suggest that Grl protein sorting to DCGs is independent of Grt proteins. Consistent with this, the granule core lattice in Delta GRT1 Delta GRT2 cells appears identical to that in wild-type cells by electron microscopy, and the only biochemical component visibly absent is Grt1p itself. Moreover, gel filtration showed that Grl and Grt proteins in cell homogenates exist in nonoverlapping complexes, and affinity-isolated Grt1p complexes do not contain Grl proteins. These data demonstrate that two major classes of proteins in Tetrahymena DCGs are likely to be independently transported during DCG biosynthesis and play distinct roles in granule function. The role of Grt1p may primarily be postexocytic; consistent with this idea, DCG contents from Delta GRT1 Delta GRT2 cells appear less adhesive than those from the wild type.

Quantum efficiency and temperature coefficients of GaInP/GaAs dual-junction solar cell

GaInP/GaAs dual-junction solar cell with a conversion efficiency of 25.2% has been fabricated using metalorganic chemical vapor deposition (MOCVD) technique. Quantum efficiencies of the solar cell were measured within a temperature range from 25 to 160A degrees C. The results indicate that the quantum efficiencies of the subcells increase slightly with the increasing temperature. And red-shift phenomena of absorption limit for all subcells are observed by increasing the cell's work temperature, which are consistent with the viewpoint of energy gap narrowing effect. The short-circuit current density temperature coefficients dJ (sc)/dT of GaInP subcell and GaAs subcell are determined to be 8.9 and 7.4 mu A/cm(2)/A degrees C from the quantum efficiency data, respectively. And the open-circuit cell voltage temperature coefficients dV (oc)/dT calculated based on a theoretical equation are -2.4 mV/A degrees C and -2.1 mV/A degrees C for GaInP subcell and GaAs subcell.

Properties of high k gate dielectric gadolinium oxide deposited on Si(100) by dual ion beam deposition (DIBD)

Gadolinium oxide thin films have been prepared on silicon (100) substrates with a low-energy dual ion-beam epitaxial technique. Substrate temperature was an important factor to affect the crystal structures and textures in an ion energy range of 100-500 eV. The films had a monoclinic Gd2O3 structure with preferred orientation ((4) over bar 02) at low substrate temperatures. When the substrate temperature was increased, the orientation turned to (202), and finally, the cubic structure appeared at the substrate temperature of 700 degreesC, which disagreed with the previous report because of the ion energy. The AES studies found that Gadolinium oxide shared Gd2O3 structures, although there were a lot of oxygen deficiencies in the films, and the XPS results confirmed this. AFM was also used to investigate the surface images of the samples. Finally, the electrical properties were presented. (C) 2004 Elsevier B.V. All rights reserved.

FexSi grown with mass-analyzed low-energy dual ion beam deposition

Heavily iron-implanted silicon was prepared by mass-analyzed low-energy dual ion beam deposition technique. Auger electron spectroscopy depth profiles indicate that iron ions are shallowly implanted into the single-crystal silicon substrate and formed 35 nm thick FexSi films. X-ray diffraction measurements show that as-implanted sample is amorphous and the structure of crystal is partially restored after as-implanted sample was annealed at 400degreesC. There are no new phases formed. Carrier concentration depth profile of annealed sample was measured by Electrochemical C-V method and indicated that FexSi film shows n-type conductivity while silicon substrate is p-type. The p-n junction is formed between FexSi film and silicon substrate showing rectifying effect. (C) 2003 Elsevier B.V. All rights reserved.

1.55-mu m ridge DFB laser integrated with a buried-ridge-stripe dual-core spot-size converter by quantum-well intermixing

A ridge distributed feedback laser monolithically integrated with a buried-ridge-stripe spot-size converter operating at 1.55 mu m was successfully fabricated by means of low-energy ion implantation quantum-well intermixing and dual-core technologies. The passive waveguide was optically combined with a laterally exponentially tapered active core to control the mode size. The devices emit in a single transverse and single longitudinal mode with a sidemode suppression ratio of 38.0 dB. The threshold current was 25 mA. The beam divergence angles in the horizontal and vertical directions were as small as 8.0 degrees x 12.6 degrees, respectively, resulting in 3.0-dB coupling loss with a cleaved single-mode optical fiber.

Laser diode monolithically integrated with an electroabsorption modulator and dual-waveguide spot-size converter

A 1.60-mu m laser diode and electroabsorption modulator monolithically integrated with a dual-waveguide spot-size converter output for low-loss coupling to cleaved single-mode optical fiber is demonstrated. The devices emit in a single transverse and quasi-single longitudinal mode with a side mode suppression ratio of 25.6 dB. These devices exhibit a 3-dB modulation bandwidth of 16.0 GHz, and modulator extinction ratios of 16.2 dB dc. The beam divergence angle is about 7.3x10.6 deg, resulting in 3.0-dB coupling loss with cleaved single-mode optical fiber. (c) 2005 Society of Photo-optical Instrumentation Engineers.

Monolithically integrated semiconductor optical amplifier and electroabsorption modulator with dual-waveguide spot-size converter input and output

We have demonstrated an electroabsorption modulator and semiconductor optical amplifier monolithically integrated with novel dual-waveguide spot-size converters (SSC) at the input and output ports for low-loss coupling to a planar light-guide circuit silica waveguide or cleaved single-mode optical fibre. The device was fabricated by means of selective-area MOVPE growth, quantum well intermixing and asymmetric twin waveguide technologies with only a three-step low-pressure MOVPE growth. For the device structure, in the SOA/EAM section, a double ridge structure was employed to reduce the EAM capacitances and enable high bit-rate operation. In the SSC sections, buried ridge structure (BRS) was incorporated. Such a combination of ridge, ATG and BRS structure is reported for the first time in which it can take advantage of easy processing of the ridge structure and the excellent mode characteristic of BRS. At the wavelength range of 1550-1600 nm, lossless operation with extinction ratios of 25 dB dc and more than 10 GHz 3 dB bandwidth is successfully achieved, The beam divergence angles of the input and output ports of the device are as small as 8.0 degrees x 12.6 degrees, resulting in 3.0 dB coupling loss with a cleaved single-mode optical fibre.

Monolithically integrated laser diode and electroabsorption modulator with dual-waveguide spot-size converter input and output

We have demonstrated a 1.60 mu m ridge-structure laser diode and electroabsorption modulator monolithically integrated with buried-ridge-structure dual-waveguide spot-size converters at the input and output ports for low-loss coupling to a cleaved single-mode optical fibre by means of selective area growth and asymmetric twin waveguide technologies. The devices emit in single transverse and quasi-single longitudinal modes with a side mode suppression ratio of 25.6 dB. These devices exhibit 3 dB modulation bandwidth of 15.0 GHz and modulator extinction ratios of 14.0 dB dc. The output beam divergence angles of the spot-size converter in the horizontal and vertical directions are as small as 7.3 degrees x 10.6 degrees, respectively, resulting in 3.0 dB coupling loss with a cleaved single-mode optical fibre.

Lossless electroabsorption modulator monolithically rntegrated with a semiconductor optical amplifier and dual-wavegulde spot-size converters

Semiconductor optical amplifier and electroabsorption modulator monolithically integrated with dual-waveguide spot-size converters at the input and output ports is demonstrated by means of selective area growth, quantum-well intermixing, and asymmetric twin waveguide technologies. At the wavelength range of 1550 similar to 1600 nm, lossless operation with extinction ratios of 25-dB dc and 11.8-dB radio frequency and more than 10-GHz 3-dB modulation bandwidth is successfully achieved. The output beam divergence angles of the device in the horizontal and vertical directions are as small as 7.3 degrees x 10.6 degrees, respectively, resulting in 3.0-dB coupling loss with cleaved single-mode optical fiber.

Laser diode integrated with a dual-waveguide spot-size converter by low-energy ion implantation quantum well intermixing

A ridge laser diode monolithically integrated with a buried-ridge-structure dual-waveguide spot-size converter operating at 1.58 mu m is successfully fabricated by means of low-energy ion implantation quantum well intermixing and asymmetric twin waveguide technology. The passive waveguide is optically combined with a laterally tapered active core to control the mode size. The devices emit in a single transverse and quasi single longitudinal mode with a side mode suppression ratio of 40.0dB although no grating is fabricated in the LD region. The threshold current is 50 mA. The beam divergence angles in the horizontal and vertical directions are as small as 7.3 degrees x 18.0 degrees, respectively, resulting in 3.0dB coupling loss With a cleaved single-mode optical fibre.

Gal(1-x)Mn(1-x)Sb grown on GaSb with mass-analyzed low-energy dual ion beam deposition

The Ga1-xMnxSb samples were fabricated by the implantation of Mn ions into GaSb (1 0 0) substrate with mass-analyzed low-energy dual ion beam deposition system, and post-annealing. Auger electron spectroscopy depth profile of the Ga1-xMnxSb samples showed that the Mn ions were successfully implanted into GaSb substrate. Clear double-crystal X-ray diffraction patterns of the Ga1-xMnxSb samples indicate that the Ga1-xMnxSb epilayers have the zinc-blende structure without detectable second phase. Magnetic hysteresis-loop of the Ga1-xMnxSb epilayers were obtained at room temperature (293 K) with alternating gradient magnetometry. (c) 2005 Elsevier B.V. All rights reserved.