Widespread occurrence of small inversions in the chloroplast genomes of land plants.

Large inversions are well characterized in the chloroplast genomes of land plants. In contrast, reports of small inversions are rare and involve limited plant groups. In this study, we report the widespread occurrence of small inversions ranging from 5 to 50 bp in fully and partially sequenced chloroplast genomes of both monocots and dicots.

Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype.

To date, approximately 200 different mutations in the MECP2 gene have been identified. We analyzed the entire coding sequence of the MECP2 gene and the X-chromosome inactivation pattern in 42 sporadic cases of Rett syndrome. Of the 42 patients, 30 had pathogenic mutations, including 14 different mutations: 9 missense mutations, 4 nonsense mutations, and 1 frameshift mutation.

Complete chloroplast genome sequences from Korean ginseng (Panax schinseng Nees) and comparative analysis of sequence evolution among 17 vascular plants.

The nucleotide sequence of Korean ginseng (Panax schinseng Nees) chloroplast genome has been completed (AY582139). The circular double-stranded DNA, which consists of 156,318 bp, contains a pair of inverted repeat regions (IRa and IRb) with 26,071 bp each, which are separated by small and large single copy regions of 86,106 bp and 18,070 bp, respectively. The inverted repeat region is further extended into a large single copy region which includes the 5' parts of the rpsl9 gene.

Clinical features of A3243G mitochondrial tRNA mutation.

Mitochondrial cytopathy is a heterogeneous group of disorders with a wide range of clinical features. To evaluate the incidence and clinical heterogeneity of A3243G mitochondrial tRNA mutation in the Korean population, we evaluated patients who were clinically suggestive of having mitochondrial encephalomyopathy. Eighty-five patients were included in this study.

Autocatalytic processing of HtrA2/Omi is essential for induction of caspase-dependent cell death through antagonizing XIAP.

A mature form of nuclear-encoded mitochondrial serine protease HtrA2/Omi is pivotal in regulating apoptotic cell death; however, the underlying mechanism of the processing event of HtrA2/Omi and its relevant biological function remain to be clarified. Here, we describe that HtrA2/Omi is autocatalytically processed to the 36-kDa protein fragment, which is required for the cytochrome c-dependent caspase activation along with neutralizing XIAP-mediated inhibition of caspases through interaction with XIAP, eventually promoting apoptotic cell death. We have shown that the autocatalytic processing of HtrA2/Omi occurs via an intermolecular event, demonstrated by incubating an in vitro translated HtrA2/Omi (S306A) mutant with the enzymatically active glutathione S-transferase-HtrA2/Omi protein.

Childhood ocular myasthenia gravis.

Purpose: To investigate the clinical manifestations and ocular findings in children with ocular myasthenia gravis (MG) that rarely have been reported in the literature.

Design: Retrospective, noncomparative case series.

Participants: Twenty-four consecutive patients less than 15 years of age with ocular MG treated between June 1988 and July 2001.

Landscape-level spatial genetic structure in Quercus acutissima (Fagaceae).

Quercus acutissima (Fagaceae), a deciduous broad-leaved tree, is an important forest element in hillsides of South Korea. We used allozyme loci, Wright's F statistics, and multilocus spatial autocorrelation statistics to examine the distribution of genetic diversity within and among three local populations and the spatial genetic structure at a landscape scale (15 ha, 250 × 600 m) on Oenaro Island, South Korea. Levels of genetic diversity in Q.

Leukodystrophy in children: a pictorial review of MR imaging features.

Dysmyelinating diseases, or leukodystrophies, encompass a wide spectrum of inherited neurodegenerative disorders affecting the integrity of myelin in the brain and peripheral nerves. Most of these disorders fall into one of three categories-lysosomal storage diseases, peroxisomal disorders, and diseases caused by mitochondrial dysfunction-and each leukodystrophy has distinctive clinical, biochemical, pathologic, and radiologic features. Magnetic resonance (MR) imaging has become the primary imaging modality in patients with leukodystrophy and plays an important role in the identification, localization, and characterization of underlying white matter abnormalities in affected patients.

Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome.

Rett syndrome is a progressive neurodevelopmental disorder occurring predominantly in females. Recently, mutations in the MECP2 gene on Xq28, which encodes methyl-CpG binding protein 2, were identified as responsible for some cases of Rett syndrome. In the present study, we analyzed the entire coding sequence of the MECP2 gene in 20 sporadic cases of Rett syndrome in Korea.