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1.
Survival of Male Patients with Incontinentia Pigmenti Carrying a Lethal Mutation Can Be Explained by Somatic Mosaicism or Klinefelter Syndrome 总被引:2,自引:0,他引:2 下载免费PDF全文
The International IP Consortium 《American journal of human genetics》2001,69(6):1210-1217
Incontinentia pigmenti (IP), or "Bloch-Sulzberger syndrome," is an X-linked dominant disorder characterized by abnormalities of skin, teeth, hair, and eyes; skewed X-inactivation; and recurrent miscarriages of male fetuses. IP results from mutations in the gene for NF-kappaB essential modulator (NEMO), with deletion of exons 4-10 of NEMO accounting for >80% of new mutations. Male fetuses inheriting this mutation and other "null" mutations of NEMO usually die in utero. Less deleterious mutations can result in survival of males subjects, but with ectodermal dysplasia and immunodeficiency. Male patients with skin, dental, and ocular abnormalities typical of those seen in female patients with IP (without immunodeficiency) are rare. We investigated four male patients with clinical hallmarks of IP. All four were found to carry the deletion normally associated with male lethality in utero. Survival in one patient is explained by a 47,XXY karyotype and skewed X inactivation. Three other patients possess a normal 46,XY karyotype. We demonstrate that these patients have both wild-type and deleted copies of the NEMO gene and are therefore mosaic for the common mutation. Therefore, the repeat-mediated rearrangement leading to the common deletion does not require meiotic division. Hypomorphic alleles, a 47,XXY karyotype, and somatic mosaicism therefore represent three mechanisms for survival of males carrying a NEMO mutation. 相似文献
2.
Pavlova LI Gorbunov MA Vorob'eva MS Karavanov AS Grachev VP Ladyshenskaia IP Rasshchepkina MN Mel'nikova LN Lebedeva TM Mel'nikov NA Gusmanova AG Deviatkov MIu Rozanova EV Mukachev MA 《Zhurnal mikrobiologii, epidemiologii, i immunobiologii》1999,(6):50-53
The word deals with the results obtained in the study of the reactogenicity and immunological activity of concentrated and inactivated tissue-culture tick-borne encephalitis vaccine, manufactured by the Chumakov Institute of Poliomyelitis and Viral Encephalitides, in the immunization of children and adolescents. The vaccine proved to be moderately reactogenic and exhibited pronounced immunological activity. In 91.5% of the immunized children the fourfold increase of the antibody level was observed. On the basis of the data obtained in this study the tick-borne encephalitis vaccine was recommended for use in medical practice for the prophylaxis of tick-borne encephalitis among children and adolescents. 相似文献
3.
S. LUYSSAERT P. CIAIS S. L. PIAO E.‐D. SCHULZE M. JUNG S. ZAEHLE M. J. SCHELHAAS M. REICHSTEIN G. CHURKINA D. PAPALE G. ABRIL C. BEER J. GRACE D. LOUSTAU G. MATTEUCCI F. MAGNANI G. J. NABUURS H. VERBEECK M. SULKAVA G. R.
Van Der WERF I. A. JANSSENS members of the CARBOEUROPE‐IP SYNTHESIS TEAM 《Global Change Biology》2010,16(5):1429-1450
We present a new synthesis, based on a suite of complementary approaches, of the primary production and carbon sink in forests of the 25 member states of the European Union (EU‐25) during 1990–2005. Upscaled terrestrial observations and model‐based approaches agree within 25% on the mean net primary production (NPP) of forests, i.e. 520±75 g C m?2 yr?1 over a forest area of 1.32 × 106 km2 to 1.55 × 106 km2 (EU‐25). New estimates of the mean long‐term carbon forest sink (net biome production, NBP) of EU‐25 forests amounts 75±20 g C m?2 yr?1. The ratio of NBP to NPP is 0.15±0.05. Estimates of the fate of the carbon inputs via NPP in wood harvests, forest fires, losses to lakes and rivers and heterotrophic respiration remain uncertain, which explains the considerable uncertainty of NBP. Inventory‐based assessments and assumptions suggest that 29±15% of the NBP (i.e., 22 g C m?2 yr?1) is sequestered in the forest soil, but large uncertainty remains concerning the drivers and future of the soil organic carbon. The remaining 71±15% of the NBP (i.e., 53 g C m?2 yr?1) is realized as woody biomass increments. In the EU‐25, the relatively large forest NBP is thought to be the result of a sustained difference between NPP, which increased during the past decades, and carbon losses primarily by harvest and heterotrophic respiration, which increased less over the same period. 相似文献
4.
Nucleotide sequence of the genes for tryptophan synthase in Pseudomonas aeruginosa 总被引:17,自引:0,他引:17
We have determined the DNA sequence of the two adjacent genes for the alpha
and beta chains of tryptophan synthase in Pseudomonas aeruginosa, along
with 34 5'-flanking and 799 3'-flanking base pairs. The gene order is trpBA
as predicted from earlier genetic studies, and the two cistrons overlap by
4 bp; a ribosome binding site for the second gene is evident in the coding
sequence of the first gene. We have also determined the location of three
large deletions eliminating portions of each gene. A detailed comparison of
the deduced P. aeruginosa amino acid sequence with those published for E.
coli, Bacillus subtilis, and Saccharomyces cerevisiae shows much similarity
throughout the beta and most of the alpha subunit. Most of the residues
implicated by chemical modification or mutation as being critical for
enzymatic activity are conserved, along with many others, suggesting that
three-dimensional structure has remained largely constant during evolution.
We also report the construction of a recombinant plasmid that overproduces
a slightly modified alpha subunit from P. aeruginosa that can form a
functionally effective multimer with normal E. coli beta 2 subunit in vivo.
相似文献
5.
The water quality of the Siluko River, Edo State, Nigeria was investigated from March to August 2015 to determine its suitability for drinking and usage for domestic purposes. Water samples collected from three stations were tested for thirteen physico-chemical parameters using standard analytical procedures. Temperature, phosphate and chloride were significantly different across the three stations. All other parameters, with the exception of turbidity, dissolved oxygen and phosphate, were within the permissible limits recommended by the Nigerian Standard for Drinking Water Quality (NSDWQ) and World Health Organization (WHO). Water Quality Index (WQI) values ranged from 11.24 to 16.15, indicating excellent water quality. While the quality of the water from the Siluko River is suitable for drinking and domestic usage, to prevent future deterioration of the water, it is recommended that the regulating authorities monitor effluents discharged into the river from human activities. 相似文献
6.
ANSON V. KOEHLER JOHN M. PEARCE PAUL L. FLINT J. CHRISTIAN FRANSON HON S. IP 《Molecular ecology》2008,17(21):4754-4762
The role of migratory birds in the movement of the highly pathogenic (HP) avian influenza H5N1 remains a subject of debate. Testing hypotheses regarding intercontinental movement of low pathogenic avian influenza (LPAI) viruses will help evaluate the potential that wild birds could carry Asian-origin strains of HP avian influenza to North America during migration. Previous North American assessments of LPAI genetic variation have found few Asian reassortment events. Here, we present results from whole-genome analyses of LPAI isolates collected in Alaska from the northern pintail (Anas acuta), a species that migrates between North America and Asia. Phylogenetic analyses confirmed the genetic divergence between Asian and North American strains of LPAI, but also suggested inter-continental virus exchange and at a higher frequency than previously documented. In 38 isolates from Alaska, nearly half (44.7%) had at least one gene segment more closely related to Asian than to North American strains of LPAI. Additionally, sequences of several Asian LPAI isolates from GenBank clustered more closely with North American northern pintail isolates than with other Asian origin viruses. Our data support the role of wild birds in the intercontinental transfer of influenza viruses, and reveal a higher degree of transfer in Alaska than elsewhere in North America. 相似文献
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8.
Structure and regulation of the anthranilate synthase genes in Pseudomonas aeruginosa: II. Cloning and expression in Escherichia coli 总被引:7,自引:0,他引:7
Crawford IP; Wilde A; Yelverton EM; Figurski D; Hedges RW 《Molecular biology and evolution》1986,3(5):449-458
The genes for the large and small subunits of anthranilate synthase (trpE
and trpG, respectively) have been cloned from Pseudomonas aeruginosa PAC174
into E. coli by R-prime formation with the broad-host- range plasmid
R68.44. Sequential subcloning into plasmid vectors reduced the active
Pseudomonas DNA fragment to a length of 3.1 kb. We obtained evidence that
this region contains the promoter for its own expression and retains a
vestigial regulatory response to tryptophan scarcity or excess.
相似文献
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10.
We have determined the DNA sequence of the distal 148 codons of trpE and
all of trpG in Pseudomonas aeruginosa. These genes encode, respectively,
the large and small (glutamine amidotransferase) subunits of anthranilate
synthase, the first enzyme in the tryptophan synthetic pathway. The
sequenced region of trpE is homologous with the distal portion of E. coli
and Bacillus subtilis trpE, whereas the trpG sequence is homologous to the
glutamine amidotransferase subunit genes of a number of bacterial and
fungal anthranilate synthases. The two coding sequences overlap by 23 bp.
Codon usage in these Pseudomonas genes shows a marked preference for codons
ending in G or C, thereby resembling that of trpB, trpA, and several other
chromosomal loci from this species and others with a high G + C content in
their DNA. The deduced amino acid sequence for the P. aeruginosa trpG gene
product differs to a surprising extent from the directly determined amino
acid sequence of the glutamine amidotransferase subunit of P. putida
anthranilate synthase (Kawamura et al. 1978). This suggests that these two
proteins are encoded by loci that duplicated much earlier in the phylogeny
of these organisms but have recently assumed the same function. We have
also determined 490 bp of DNA sequence distal to trpG but have not
ascertained the function of this segment, though it is rich in dyad
symmetries.
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