The human CHC1 gene encoding RCC1 (regulator of chromosome condensation) (CHC1) is localized to human chromosome 1p36.1.
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Animals↗
Biomedical subjects
N Seki
Publications and source records attributed to N Seki.
Sequence tagged sites of microclones obtained by microdissection of a human chromosomal region 11q23 and isolation of yeast artificial chromosomes.
A human chromosomal region 11q23-specific DNA library has been constructed by means of microdissection-microcloning method with polymerase chain reaction (PCR) technique (Seki et al., Genomics 16: 1993). DNA sequences were determined for 25 microclones that contained approximately 300-500 bp insert and gave a unique (single copy) signal in Southern blot analysis. The sequence tagged site (STS) was designed and appropriate condition for PCR was determined for each unique microclone. Twelve STSs were established and used for PCR-screening of human genomic libraries constructed with yeast artificial chromosome (YAC). Thirteen YAC clones have been isolated from eight STSs. These chromosomal region-specific STSs and YAC clones will be useful in the positional cloning of disease-related genes localized to the q23 region of chromosome 11.
Base Sequence↗
Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene.
Hereditary progressive dystonia with marked diurnal fluctuation (HPD) (also known as dopa responsive dystonia) is a dystonia with onset in childhood that shows a marked response without any side effects to levodopa. Recently the gene for dopa responsive dystonia (DRD) was mapped to chromosome 14q. Here we report that GTP cyclohydrolase I is mapped to 14q22.1-q22.2. The identification of four independent mutations of the gene for GTP cyclohydrolase I in patients with HPD, as well as a marked decrease in the enzyme's activity in mononuclear blood cells, confirms that the GTP cyclohydrolase I gene is a causative gene for HPD/DRD. This is the first report of a causative gene for the inherited dystonias.
Age of Onset↗
Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1.
We established a protocol for the prediction of the coding sequences of unidentified human genes based on the double selection and sequence analysis of cDNA clones with inserts carrying unreported 5'-terminal sequences and with insert sizes corresponding to nearly full-length transcripts. By applying the protocol, cDNA clones with inserts longer than 2 kb were isolated from a cDNA library of human immature myeloid cell line KG-1, and the coding sequences of 40 new genes were predicted. A computer search of the sequences indicated that 20 genes contained sequences similar to known genes in the GenBank/EMBL databases. The sequences of the remaining 20 genes were entirely new, and characteristic protein motifs or domains were identified in 32 genes. Other sequence features noted were that the coding sequences of 23 genes were followed by relatively long stretches of 3'-untranslated sequences and that 5 genes contained repetitive sequences in their 3'-untranslated regions. The chromosomal location of these genes has been determined. By increasing the scale of the above analysis, the coding sequences of many unidentified genes can be predicted.
Base Sequence↗
Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1 (supplement).
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Base Sequence↗
Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1.
By applying the protocol previously established, we isolated and sequenced full-length cDNA clones longer than 2 kb from cDNA library of human immature myeloid cell line KG-1, and the coding sequences of 40 new genes were predicted. A computer search of the sequences indicated that 29 genes contained sequences with similarities to reported genes in the GenBank/EMBL databases. Significant transmembrane domains were identified in 9 genes, 5 of which harbored multiple hydrophobic regions. Protein motifs that matched those in the PROSITE motif database were identified in 13 genes. In terms of sequence similarities and protein motifs, 5 genes were related to transcriptional factors. Repetitive sequences were found in the 3'-untranslated region of 8 genes. Northern hybridization demonstrated that the expression of 9 genes was tissue-specific, while the remaining 31 genes were expressed ubiquitously. It was also noted that 17 genes yielded different sizes of bands possibly due to either alternative splicing or alternative initiation. The chromosomal location of these genes has been determined.
Amino Acid Sequence↗
Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1 (supplement).
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Amino Acid Sequence↗
Recovery period from ureteral obstructions of different duration and severity in the rat kidney.
The relationship between the period for recovery from hydronephrosis and the characteristics of the obstruction still needs to be clarified. In rat kidney the left ureter was completely obstructed for 3, 7, 14 and 21 d and the renal function was measured by renal scintigraphy using 99mTC-dimercaptosuccinic acid 3, 7 and 14 d after the obstruction was removed. In addition, recovery from unilateral partial obstruction (PO) of different degrees of severity for 7 d was examined. The kidneys with very mild PO recovered within 3 d and those with a very long period of complete obstruction (CO) did not exhibit any significant recovery. However, most of the kidneys with CO of various durations and those with 7 days PO of various degrees of severity exhibited maximum recovery 7 d after the release of the obstruction. This study suggests that the period required for maximum recovery from hydronephrosis is usually constant, unless the obstruction is too mild to cause any damage or too long to permit any recovery.
Animals↗
Cytogenetic and molecular analysis of dynamic mutation associated with fragile X syndrome.
Fragile X syndrome is the most common familial form of mental retardation and known to be associated with the fragile site at Xq27.3 (FRAXA). The syndrome has recently been characterized by a unique genetic mechanism which involves dynamic mutation due to a heritable unstable DNA sequence, p(CCG)n repeat, in the FRAXA locus. We were asked to make a genetic diagnosis on the case of a normal male who has two brothers and a maternal uncle with mental retardation. We performed the pedigree analysis of the fragile X syndrome using both cytogenetic and molecular techniques. The affected two brothers and the uncle showed cytogenetic expression of the fra (X)(q27.3) and carried hypermethylated full mutation in the FRAXA locus. The phenotypically normal mother also exhibited fragile X expression and was found to be a carrier of premutation. Via female transmission, the premutation converted to full mutation and exhibited somatic heterogeneity and hypermethylation. However, both cytogenetic and molecular data did not show any evidence of fragile X mutation in the normal male client and, thus, excluded the possibility of his being a carrier.
Adult↗
[The significance of portal infusion chemotherapy for prevention of recurrence in residual liver after hepatectomy for metastases from colorectal cancer].
We performed portal infusion chemotherapy using a reservoir for prevention of recurrence in residual liver after hepatectomy for metastases from colo-rectal cancer. To study the usefulness of portal infusion chemotherapy, the period from hepatectomy to recurrence in residual liver was investigated by three treatment groups for H2 cases; (a) a group of systemic chemotherapy, (b) a group of arterial infusion chemotherapy and (c) a portal infusion chemotherapy group. Treatment in (a) group was for 204 +/- 98.2 days (n = 6), in (b) group for 343.0 +/- 238.3 days (n = 8) and in (c) group for 961.0 +/- 1,172.4 days (n = 5). There was no statistically significant difference in the three groups, but (c) group had a better result in recurrence in residual liver. As for prevention of recurrence in residual liver after re-hepatectomy, there was no significant difference in the three groups, but (c) group had the longest survival.
Aged↗
Effects of adenosine A2 receptor agonists on the excitation of capsaicin-sensitive afferent sensory nerves in airway tissues.
We examined the effects of adenosine analogues on the asthmatic reactions induced by the stimulation of capsaicin-sensitive afferent sensory nerves. Intravenous (i.v.) injection of adenosine A2 receptor agonists, 5'-(N-ethylcarboxamido)-adenosine (NECA) and 2-[p-(carboxyethyl)-phenylethylamino]-5'-N-ethylcarboxamido-adenos ine (CGS 21,680), dose dependently inhibited capsaicin-induced guinea-pig bronchoconstriction (1-1000 nmol kg-1), whereas i.v. administration of the adenosine A1 receptor agonist, N6-cyclo-hexyladenosine (CHA), did not affect it (1000 nmol kg-1). Intratracheal injection of NECA (0.05-5 nmol site-1) and CGS 21,680 (0.05-5 nmol site-1) also reduced capsaicin-induced constriction in a dose-dependent manner. However, NECA (1000 nmol kg-1) failed to inhibit substance P-induced guinea-pig bronchoconstriction. NECA (1-1000 nmol kg-1) dose-dependently inhibited cigarette smoke-induced rat tracheal plasma extravasation, but not substance P-induced reaction. NECA (0.1-10 microM) and CGS 21,680 (10 microM) significantly blocked the capsaicin-induced release of substance P-like immunoreactivity from guinea-pig lung, whereas CHA (10 microM) had no effect. This evidence suggests that adenosine A2 receptors modulate negatively the excitation of capsaicin-sensitive afferent sensory nerves and substance P release from their endings in airway tissues.
Adenosine↗
Microdissection and microcloning of genomic DNA markers from human chromosomal region 11q23.
A human genomic DNA library was constructed by using a microdissection-microcloning procedure with polymerase chain reaction (PCR) techniques on DNA from the chromosome 11q23 region. A total of 450 recombinant pUC clones were isolated from the library. Their insert sizes ranged from 150 to 850 bp with a mean of 320 bp. Fifty pUC clones were randomly selected and analyzed in detail. Southern blot analyses showed that 21 (42%) clones were unique DNA sequences, 20 (40%) clones were repetitive sequences, and 9 (18%) clones had no detectable hybridization. The unique sequences were used further in a secondary screening of a partially digested human genomic DNA library constructed in phage vector, and 4 clones were isolated. The chromosomal locations of these phage clones were confirmed to be in the q23 region of chromosome 11 by fluorescence in situ suppression hybridization. These pUC microclones isolated from the chromosomal region-specific genomic DNA library will be useful in the construction of physical contig maps with yeast artificial chromosome and/or cosmid clones and in the positional cloning of disease-associated genes localized to the q23 region of chromosome 11.
Chromosome Mapping↗
Electrophysiological comparison of the effects of MCI-154 on smooth muscles between mesenteric artery and vein of dogs.
1. Effects of MCI-154, a cardiotonic vasodilator, on smooth muscles were compared in isolated mesenteric artery and vein of dog. 2. MCI-154 depolarized the membrane, and inhibited Ca(2+)- and K(+)-contractions more in the vein than in the artery. 3. Nerve-mediated and noradrenaline-induced contractions, and the excitatory junction potential (e.j.p.) were inhibited by MCI-154 in the vein and potentiated in the artery. 4. Compound action potentials of perivascular nerves and action potentials generated on the e.j.p. were not altered by MCI-154. 5. MCI-154 predominantly dilates venous muscles, and as a result would reduce cardiac outflow and lower systemic blood pressure.
Animals↗
Separation of large and small granules from horseshoe crab (Tachypleus tridentatus) hemocytes and characterization of their components.
We designed a method for separating two types of granules, a smaller (S) but dense and a larger (L) but less dense granule from hemocytes of the horseshoe crab (Tachypleus tridentatus), using continuous sucrose density gradient centrifugation. The isolated L-granules contained at least three clotting factors plus a clottable protein, coagulogen, as the major component. The known anti-lipopolysaccharide factor and 7 additional unknown protein components were also present in the L-granules. Two known natural substrates, Pro-rich protein and 8.6 kDa protein, for limulus transglutaminase [Tokunaga, F., Yamada, M., Miyata, T., Ding, Y.-L., Hiranaga-Kawabata, M., Muta, T., Iwanaga, S., Ichinose, A., & Davie, E.W. (1993) J. Biol. Chem. 268, 252-261] were present in the L-granules. On the other hand, the isolated S-granules contained antimicrobial tachyplesins I and II (17 amino acids in length) as the major component, in addition to 6 unidentified proteins with molecular masses of less than 30 kDa. The structural analyses of tachyplesin analogs indicated that all these peptides of mature form are stored in the S-granules, together with a processing intermediate containing the COOH-terminal Gly-Lys sequence. We also found an Arg-rich protein of 22 kDa and a Leu-rich protein of 30 kDa in S-granules. Based on these observations, we speculate that protein components in L-granules, which probably contain all the factors essential for the limulus clotting system, participate in immobilization of invading microbes and that factors in the S-granules containing tachyplesins contribute to a self-defense system against invaders.
Amino Acid Sequence↗
Prenatal diagnosis of fragile X syndrome by direct detection of the dynamic mutation due to an unstable DNA sequence.
The fragile X syndrome is the most common familial form of mental retardation. The mutation causing the syndrome is dynamic mutation due to an unstable DNA (CCG)n repeat localized at Xq27.3. We have previously reported a PCR procedure to prepare a diagnostic probe, pPCRfx1, which can be used to determine the genotype of fragile X mutation individuals by Southern blot analysis. In the present study, pPCRfx1 was applied to the prenatal diagnosis, using chorionic villus cells, of a fetus which was at risk of having fragile X syndrome. In the PstI assay, the Southern blot showed the typical pattern of a female carrier with the full mutation. Analysis of the DNA methylation patterns by EcoRI + EagI assay showed that the EagI restriction site was not methylated on the mutated X chromosome of chorionic villi, but the sites were totally methylated in the brain and other tissues of the fetus. Thus the fetus was diagnosed to be a heterozygous female carrier of the dynamic mutation involved in the fragile X syndrome.
Blotting, Southern↗
Heritable unstable DNA sequences and hypermethylation associated with fragile X syndrome in Japanese families.
Fragile X syndrome, associated with the fragile site at Xq27.3 (FRAXA), is the most common form of familial mental retardation. The fragile X mutation has recently been characterized as a heritable unstable DNA sequence, p(CCG)n/p(CGG)n, in the FRAXA locus. In the present study, a correlation between fragile X-genotypes in the FRAXA locus and hypermethylation of an adjacent CpG island was examined in four Japanese families with fragile X syndrome. We show here that the heritable unstable DNA sequences in the fragile X chromosome usually increase in size when transmitted by female carriers, and that the degree of methylation in the CpG island correlated with the increased sizes of the unstable DNA sequences. When a hypermethylated full mutation was transmitted by a male to his daughters, both the size of the unstable DNA sequence and the degree of the methylation reduced to the premutation range. Our observations suggest that female meiosis has a greater potential for amplifying unstable DNA sequences and that amplified DNA sequences can be transmitted through germ cells, while male germ cells seem not to be able to tolerate highly amplified unstable DNA sequences.
Base Sequence↗
Prenatal diagnosis of a hypermethylated full fragile X mutation in chorionic villi of a male fetus.
Fragile X syndrome, one of the most common human genetic diseases, is characterised by a unique genetic mechanism which involves dynamic mutation because of a heritable unstable DNA sequence and abnormal DNA methylation. Direct detection of the dynamic mutation and its methylation status at the DNA level would facilitate reliable tests for prenatal and postnatal diagnosis of the disease and for carrier detection. However, it has been suggested that DNA methylation can not be used as the basis for prenatal diagnosis as the CpG island is not always methylated in chorionic villus DNA. We report here a male fetus exhibiting both extensive somatic heterogeneity and abnormal hypermethylation of the full fragile X mutation in chorionic villus DNA as well as in fetal tissue DNA. Our results indicate that both somatic heterogeneity and hypermethylation of the full fragile X mutation are events that are clearly detectable in the 11th to 12th week of pregnancy.
Blotting, Southern↗
A granular cell tumor of the buccal mucosa--a case report.
In the oral region, granular cell tumors often occur in the tongue, but rarely in the buccal mucosa. A case of granular cell tumor in the right buccal mucosa of a 74 year-old female is described. An elastic-hard solid mass about 1 cm in diameter was palpated under the right buccal mucosa. It was well-defined from the proximal tissues and adhered to part of the buccal mucosa. As a result of a biopsy, the diagnosis of a granular cell tumor was made. The tumor was resected together with the surrounding tissues under local anesthesia. Histopathological examination revealed large tumor cells with eosinophilic, PAS-positive fine granules under the hyperplastic epithelium. The granular cells stained negatively with PTAH, but positively with S-100 protein. Electron microscopic observations revealed a number of lysosomes of various sizes and densities within the cytoplasm of the tumor cells.
Aged↗