Characterization of the human SDHD gene encoding the small subunit of cytochrome b (cybS) in mitochondrial succinate–ubiquinone oxidoreductase

AbstractWe have mapped large (cybL) and small (cybS) subunits of cytochrome b in the succinate–ubiquinone oxidoreductase (complex II) of human mitochondria to chromosome 1q21 and 11q23, respectively (H. Hirawake et al., Cytogenet. Cell Genet. 79 (1997) 132–138). In the present study, the human SDHD gene encoding cybS was cloned and characterized. The gene comprises four exons and three introns extending over 19 kb. Sequence analysis of the 5′ promoter region showed several motifs for the binding of transcription factors including nuclear respiratory factors NRF-1 and NRF-2 at positions −137 and −104, respectively. In addition to this gene, six pseudogenes of cybS were isolated and mapped on the chromosome

Photoluminescence, morphology, and structure of hydrothermal ZnO implanted at room temperature with 60 keV Sn+ ions

Hydrothermal ZnO wafers implanted at room temperature with 60 keV Sn^+ ions are examined by means of photoluminescence (PL), atomic force spectroscopy (AFM), and X-ray diffractometry techniques. The PL intensity significantly decreases in the wafers implanted to doses of 4.1 × 10^[13] ions/cm^2 and higher. The AFM measurements indicate that surface roughness variation is not the cause of the significant decrease in PL intensity. Furthermore, the PL deep level (DL) band peak blueshifts after illuminating the implanted samples with the He-Cd laser 325 nm line; meanwhile, the DL band intensity first increases and then decreases with illumination time. These abnormal behaviors of the DL band are discussed

Metaphase and Interphase Cytogenetics with Alu-PCR-amplified Yeast Artificial Chromosome Clones Containing the BCR Gene and the Protooncogenes c-raf-1, c-fms, and c-erbB-21

A human yeast artificial chromosome (YAC) library was screened by polymerase chain reaction with oligonucleotide primers defined for DNA sequences of the BCR gene and the protooncogenes c-raf-1, c-fms, and c-erB-2. Alu-PCR-generated human DNA sequences were obtained from the respective YAC clones and used for fluorescence in situ hybridization experiments under suppression conditions. After chromosomal in situ suppression hybridization to GTG-banded human prometaphase chromosomes, seven of nine initially isolated YAC clones yielded strong signals exclusively in the chromosome bands containing the respective genes. Two clones yielded additional signals on other chromosomes and were excluded from further tests. The band-specific YACs were successfully applied to visualize specific structural chromosome aberrations in peripheral blood cells from patients with myelodysplasia exhibiting del(5)(q13q34), chronic myeloid leukemia and acute lymphocytic leukemia with t(9;22)(q34;q11), acute promyelocytic leukemia (M3) with t(15;17)(q22;q21), and in a cell line established from a proband with the constitutional translocation t(3;8)(p14.2;q24). In addition to the analysis of metaphase spreads, we demonstrate the particular usefulness of these YAC clones in combination with whole chromosome painting to analyze specific chromosome aberrations directly in the interphase nucleus

コウブンギ ノ ヒカク 二 モトヅイタ プログラム サブン ノ ヒョウジ ホウシキ

Void formation and structure change by heavy ion irradiation were investigated in GaSb and InSb thin films. The voids were formed after irradiation in both materials. The average diameter of the voids was about 15nm in GaSb and 20nm in InSb irradiated with 60 keV Snþ ions to a fluence of 0:25 x 1018 ions/m2 at room temperature. The void size in InSb is larger than that in GaSb. The large void size is quantitatively explained by the amount of induced vacancies obtained by the SRIM code simulation. The Debye-Scherrer rings were observed in the SAED patterns on both materials. The structure changes into a polycrystal by ion irradiation. Additionally, the 200 superlattice reflections in the [001] net pattern were almost absent, and the streak pattern along the h110i direction was observed in InSb. It is considered that the anti phase domains of different lengths are formed by ion irradiation. Ion irradiation transforms the structure of InSb from chemical ordering to chemical disordering via the formation of anti phase boundaries

Chromosomal bar codes produced by multicolor fluorescence in situ hybridization with multiple YAC clones and whole chromosome painting probes

Colored chromosome staining patterns, termed chromosomal ‘bar codes’ (CBCs), were obtained on human chromosomes by fluorescence in situ hybridization (FISH) with pools of Alu-PCR products from YAC dones containing human DNA inserts ranging from 100 kbp to 1 Mbp. In contrast to conventional G- or R-bands, the chromosomal position, extent, Individual color and relative signal intensity of each ‘bar’ could be modified depending on probe selection and labeling procedures. Alu-PCR amplification products were generated from 31 YAC clones which mapped to 37 different chromosome bands. For multiple color FISH, Alu-PCR amplification products from various clones were either biotinylated or labeled with digoxigenin. Probes from up to twenty YAC clones were used simultaneously to produce CBCs on selected human chromosomes. Evaluation using a cooled CCD camera and digital image analysis confirmed the high reproducibility of the bars from one metaphase spread to another. Combinatorial FISH with mixtures of whole chromosome paint probes was applied to paint seven chromosomes simultaneously in different colors along with a set of YAC clones which map to these chromosomes. We discuss the potential to construct analytical chromosomal bar codes adapted to particular needs of cytogenetic investigations and automated image analysis

Characterization of two marker chromosomes in a patient with acute nonlymphocytic leukemia by two-color fluorescence in situ hybridization

A patient with acute nonlymphocytic leukemia (ANLL), M5b according to French-American-British (FAB) classification, showed monosomy 16, an extra 1p−, and a 21q+. These derivative chromosomes could not be defined by GTG-banding. For better characterization, we performed two-color fluorescence in situ hybridization (FISH) experiments applying DNA libraries from sorted human chromosomes, chromosome-specific repetitive probes, and a band-specific YAC-clone. With these FISH studies the karyotype could be characterized as 46,XY,+der(1)t(1;21)(p11;?),−16,der(21)t(16;21)(p11.1;q22)