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41.
Roelof-Jan Oostra Stephan Kemp Pieter A. Bolhuis Elisabeth M. Sleeker-Wagemakers 《Human genetics》1996,97(4):500-505
Leber’s hereditary optic neuropathy (LHON) is a maternally inherited disorder of the optic nerves. It has been proposed that
the specific mutations in the mitochondrial DNA (mtDNA) that are associated with LHON require and X-chromosomally encoded
permissive factor in order to become expressed. This would explain both the preponderance of male patients and the fact that
most carriers of specific mtDNA mutations remain unaffected. Although linkage studies have been negative so far, the existence
of such a factor has not been ruled out. We investigated the genealogical data of 24 large LHON pedigrees and concluded that
the presumed X-linked factor would be recessively inherited and that at least 57% of the affected females would be heterozygous.
Therefore, these females must be the victim of nonrandom X-chromosomal inactivation (skewed lyonization). However, analysis
of X-chromosomal methylation patterns in 16 LHON-affected females revealed substantial skewing in only 15%–20% of cases, which
is not significantly different from the patterns in 49 controls. Moreover, we found the frequency of LHON in daughters of
affected heterozygous females to be twice to three times as high as in daughters of unaffected heterozygous females, which
cannot be explained by an X-chromosomally inherited factor. We conclude that the results of our investigations do not support
the hypothesis that LHON is a digenic disease with an X-linked factor being the main cause of loss of vision in the presence
of relevant mtDNA mutations.
Received: 1 June 1995 / Revised: 20 September 1995 相似文献
42.
Elisabeth Oppliger Leibundgut Bendicht Wermuth Jean-Pierre Colombo Sabina Liechti-Gallati 《Human genetics》1996,97(2):209-213
Ornithine transcarbamylase (OTC) deficiency, the most common inborn error of the urea cycle, shows X-linked inheritance with frequent new mutations. Using polymerase chain reaction (PCR) amplification of the individual exons including adjacent intron sequences followed by direct sequencing of the amplimers we identified four new mutations affecting donor splice sites of introns 2, 5, 6, and 8. The mutation at the first position of intron 2 was a G to A exchange associated with acute neonatal hyperammonemia in a male patient at the age of 5 months. A G to C substitution in intron 5 was detected in a boy who developed 2 days after birth hypotonia, and respiratory distress, followed by severe hyperammonemia and terminal coma. The intron 6 mutation, a G to T substitution, was detected in a girl presenting with first episodes of vomiting and agitation at the age of 2 months. The mutation in intron 8, also a G to T transition, caused fatal hyperammonemia and early death at the age of 15 days in a male patient. We present four donor splice site mutations resulting in severe neonatal or very early onset of the disease in three boys and in one female patient. As the GT dinucleotide of the 5 donor splice site is invariant and required for correct splicing the described mutations may lead to improperly spliced mRNAs and aberrant gene products. 相似文献
43.
Carole Mign Grard Prensier Agns Cornu Elisabeth Grenet 《Biology of the cell / under the auspices of the European Cell Biology Organization》1996,88(3):137-144
Summary— Arabinoxylans were localised by immunocytochemistry using polyclonal antibodies in the cell walls of the apical internode of maize after degradation in the rumen. In order to understand the significance of arabinoxylan in digestibility property, two lines of maize differing in digestibility were used. Wide variations in the intensity of labelling were observed in the four tissues studied (sclerenchyma, fibres, xylem and parenchyma) from the first hours of incubation in the rumen. Incubation time in the rumen greatly influences the intensity of labelling. 相似文献
44.
Jonathan A. Lindquist Elisabeth Barofsky Philip N. McFadden 《Journal of Protein Chemistry》1996,15(1):115-122
Protein (d-aspartyl/l-isoaspartyl) carboxyl methyltransferase (PCM, E.C. 2.1.1.77) was previously shown to be enzymatically methyl esterified in an autocatalytic manner at altered aspartyl residues; methyl esters are observed in a subpopulation of the enzyme termed thePCM fraction [Lindquist and McFadden (1994),J. Protein Chem.
13, 23–30]. The altered aspartyl sites serving as methyl acceptors inPCM have now been localized by using proteolytic enzymes and chemical cleavage techniques in combination with matrix-assisted laser desorption/ionization (MALDI) mass spectrometry to identify fragments of the [3H]automethylated enzyme that contain a [3H]methyl ester. Methylation was positively identified at positions Asn188 and Asp217 in the enzyme sequence, a consequence of the spontaneous alteration of these sites tol-isoaspartyl ord-aspartyl sites and their methylation by active PCM molecules. The identification of more than one site of automethylation shows thatPCM is not a homogeneous population of damaged PCM molecules, but rather a complex population of molecules with a variety of age-altered damage sites.Abbreviations PCM
protein (d-aspartyl/l-isoaspartyl) carboxyl methyltransferase
- EDTA
disodium ethylenediaminetetraacetate
- PMSF
phenylmethylsulfonyl fluoride
- TEA
trifluoroacetic acid
- HPLC
high-pressure liquid chromatography 相似文献
45.
Mechanical effects of ET-1 in cardiomyocytes isolated from normal and heart-failed rabbits 总被引:1,自引:0,他引:1
Elizabeth J. Kelso Robert F. Geraghty Barbara J. McDermott Elisabeth R. Trimble D. Paul Nicholls Bernard Silke 《Molecular and cellular biochemistry》1996,157(1-2):149-155
Endothelin (ET-1) is found at elevated concentrations in the plasma of patients with heart failure and in animal models of cardiomyopathy. The peptide is a potent positive inotropic agent, the effects of which are mediated by increases in cytosolic Ca2+ in cardiomyocytes. The object of this study was to investigate at the cellular level, the actions of ET-1 on contractile function and on Ca2+ currents in heart-failed ventricular myocardium. Male New Zealand White rabbits (8 wks) were treated with twice weekly injections of epirubicin (4 mg/kg/wk, n=7) or with saline (n=7) for 6 wks, followed by a washout period of 2 wks. Ventricular cardiomyocytes were isolated from rabbit hearts using Langendorff perfusion with collagenase; contractile function was examined using a video microscopy method, and L-type Ca2+ currents were recorded using a whole-cell patch-clamp technique. ET-1 produced a concentration-dependent increase in contractile response (% increase from basal value) to a maximum at 1 nM ET-1 of 69 ± 11% (mean ± S.D.) in control cardiomyocytes and 33 ± 6% in heart-failed cells. However, there was no significant change in the EC50 obtained with ET-1 for healthy (0.31 ± 0.1 nM) and for failed cardiomyocytes (0.24 ± 0.1 nM). The effects of ET-1 on L-type Ca2+ channels were similar with a peak amplitude at 1 nM ET-1 of –3.26 ± 0.8 in control cardiomyocytes and –3.32 ± 0.9 nA in heart-failed cells. The attenuation of the contractile response to ET-1 in heart-failed cells may reflect a desensitization of ET receptors as a consequence of elevated circulating levels of ET and was not reflected by alteration of transmembrane Ca2+ conductance. It is probable, therefore, that multiple signalling pathways are involved in the actions of ET on ventricular myocardium.Recipient of Servier Investigator Award 相似文献
46.
Elisabeth Gilert 《Nordic Journal of Botany》1996,16(5):515-547
Ultrastructural studies of selected species of Licea were made in order to elucidate relationships among species. Based on structural studies, species may be grouped as representing different stages of morphological complexity. The majority of species possess protoplasmodia and form sporangia. The two plasmodiocarpous species L. retiformis and L. variabilis possess more highly differentiated plasmodia and are an anomaly among Licea species. Processes along the margin of peridial lobes in several species of the genus are probably homologous with the capillitium in Listerella . The latter genus is morphologically and structurally very similar to species of the Licea pusilla group, but its plasmodium is still unknown. The sole species of Listerella agrees with Licea operculata in the structure of spore ornamentation, the processes consisting of densely packed granules of high electron density. This structure is quite different from that of L. pusilla and L. minima , where the processes have an internal structure of alternating layers different in electron transparency. Presence of spore-like bodies, different in size and ornamentation from normal spores, have been demonstrated in the border region between stalk and sporangium in L. operculata . This is a feature previously supposed to be restricted to Arcyria and related genera. Using X-ray analysis, calcium has been found in the peridium of several species of Licea . Since environmental factors may influence the presence or absence of calcium, caution should be taken in interpreting differences taxonomically. The similarity in elemental composition between the spores and sporangial lid in L. operculata is interesting, considering the fact that the sporangial lid of Trichia crateriformb has been demonstrated to be composed of spore-like structures. 相似文献
47.
Pigment protein complexes and the concept of the photosynthetic unit: Chlorophyll complexes and phycobilisomes 总被引:5,自引:0,他引:5
Elisabeth Gantt 《Photosynthesis research》1996,48(1-2):47-53
The photosynthetic unit includes the reaction centers (RC 1 and RC 2) and the light-harvesting complexes which contribute to evolution of one O2 molecule. The light-harvesting complexes, that greatly expand the absorptance capacity of the reactions, have evolved along three principal lines. First, in green plants distinct chlorophyll (Chl) a/b-binding intrinsic membrane complexes are associated with RC 1 and RC 2. The Chl a/b-binding complexes may add about 200 additional chromophores to RC 2. Second, cyanobacteria and red algae have a significant type of antenna (with RC 2) in the form of phycobilisomes. A phycobilisome, depending on the size and phycobiliprotein composition adds from 700 to 2300 light-absorbing chromophores. Red algae also have a sizable Chl a-binding complex associated with RC 1, contributing an additional 70 chromophores. Third, in chromophytes a variety of carotenoid-Chl-complexes are found. Some are found associated with RC 1 where they may greatly enhance the absorptance capacity. Association of complexes with RC 2 has been more difficult to ascertain, but is also expected in chromophytes. The apoprotein framework of the complexes provides specific chromophore attachment sites, which assures a directional energy transfer whithin complexes and between complexes and reaction centers. The major Chl-binding antenna proteins generally have a size of 16–28 kDa, whether of chlorophytes, chromophytes, or rhodophytes. High sequence homology observed in two of three transmembrane regions, and in putative chlorophyll-binding residues, suggests that the complexes are related and probably did not evolve from widely divergent polyphyletic lines.Abbreviations APC
allophycocyanin
- B
phycoerythrin-large bangiophycean phycoerythrin
- Chl
chlorophyll
- LCM
linker polypeptide in phycobilisome to thylakoid
- FCP
fucoxanthin Chl a/c complex
- LHC(s)
Chl-binding light harvesting complex(s)
- LHC I
Chl-binding complex of Photosystem I
- LHC II
Chl-binding complex of Photosystem II
- PC
phycocyanin
- PCP
peridinin Chl-binding complex
- P700
photochemically active Chl a of Photosystem I
- PS I
Photosystem I
- PS II
Photosystem II
- RC 1
reaction center core of PS I
- RC 2
reaction center core of PS II
- R
phycoerythrin-large rhodophycean phycoerythrin
- sPCP
soluble peridinin Chl-binding complex 相似文献
48.
The determination of the various endogenous cylokinins and their distribution among organs is important in understanding their role in growth and development in the intact plant. Cytokinins in young plants of Phaseolus vulgaris were purified by immunoaffinity chromatography and HPLC, and characterised by UV spectra. Zeatin nucleotide (zeatin riboside-5'-monophosphate) and isopentenyladenine nucleotide (isopentenyladenosne-5'-monopnosphate) were the most abundant cytokinins in all organs. Their identities were confirmed by GC-MS. The levels of zeatin, zeatin riboside, isopentenyladenine and isopentenyladenosine never exceeded 5% of the nucleotides, as assessed by a methodology that preserves cytokinin nucleotides. Three extraction methods were compared with qualitatively similar results, though differing in their suppression of nucleotidase activity. Cytokinin nucleotide levels were greater in the stems and petioles than in the roots and leaves on a per gram fresh weight basis, and were greater in the stems than in the other organs on a per plant basis. Levels of the zeatin and isopentenyladenine nucleotides were about equal in the stems and leaves, but in the petioles the zeatin nucleotide levels were about twice the level of isopentenyladenine nucleotide, while in the roots they were about half the isopentenyladenine nucleotide level. The importance of considering the cytokinin form is emphasised. 相似文献
49.
Ursula Kurzik-Dumke Dietmar Gundacker Martin Rentrop Elisabeth Gateff 《Genesis (New York, N.Y. : 2000)》1995,16(1):64-76
The Drosophila melanogaster tumor suppressor gene lethal(2)tumorous imaginal discs (l(2)tid) causes in homozygotes malignant growth of cells of the imaginal discs and the death of the mutant larvae at the time of puparium formation. We describe the molecular cloning of the 1(2)tid+ gene and its temporal expression pattern in the wild-type and mutant alleles. Germ line rescue of the tumor phenotype was achieved with a 7.0 kb Hindlll-fragment derived from the polytene chromosome band 59F5. The l(2)tid+ gene spans approximately 2.5 kb of genomic DNA. The protein coding region, 1,696 bps long, is divided by an intron into two exons. The predicted Tid56 protein contains 518 amino acids and possesses a theoretical molecular weight of 56 kDa. It shows significant homology to all known DnaJ related proteins from bacteria, yeast, and man. The possible function of the Tid56 protein in tumor suppression is delineated. © 1995 Wiley-Liss, Inc. 相似文献
50.
Elisabeth Steichen-Gersdorf Holly H. Gallion Deborah Ford Catherine Girodet Douglas F. Easton Richard A. DiCioccio Gareth Evans Margaret A. Ponder Carole Pye Sylvie Mazoyer Tetsuro Noguchi Fabienne Karengueven Hagay Sobol A. Hardouin Yves-Jean Bignon M. Steven Piver Simon A. Smith Bruce A. J. Ponder 《American journal of human genetics》1994,55(5):870-875
In a study of nine families with “site-specific” ovarian cancer (criterion: three or more cases of epithelial ovarian cancer and no cases of breast cancer diagnosed at age <50 years) we have obtained evidence of linkage to the breast-ovarian cancer susceptibility gene, BRCA1 on 17q12-21. If the risk of cancer in these families is assumed to be restricted to the ovary, the best estimate of the proportion of families linked to BRCA1 is .78 (95% confidence interval .32–1.0). If predisposition to both breast and ovarian cancer is assumed, the proportion linked is 1.0 (95% confidence interval .46–1.0). The linkage of familial site-specific ovarian cancer to BRCA1 indicates the possibility of predictive testing in such families; however, this is only appropriate in families where the evidence for linkage to BRCA1 is conclusive. 相似文献