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31.
Olaf Rieβ Claudia Kammerbauer Lutz Roewer Viktor Steimle Adriane Andreas Ekkehard Albert Tatsuo Nagai Jörg T. Epplen 《Immunogenetics》1990,32(2):110-116
We have investigated the extent of DNA variability in intronic simple (gt)n(ga)m repeat sequences and correlated this to sequence polymorphisms in the flanking exon 2 of HLA-DRB genes. The polymerase chain reaction (PCR) was used to amplify a DNA fragment containing exon 2 and the repeat region of intron 2. The PCR products were separated on sequencing gels in order to demonstrate length hypervariability of the (gt)n(ga)m repeats. In a parallel experiment, the PCR products were cloned and sequenced (each exon 2 plus adjacent simple repeats) to characterize the simple repeats in relation to the HLA-DRB sequences. In a panel of 25 DRB1, DRB4, and DRB5 alleles new sequences were not detected. Restriction fragment length polymorphism (RFLP) subtyping of serologically defined haplotypes corresponds to translated DNA sequences in 85% of the cases, the exceptions involving unusual DR/DQ combinations. Many identical DRB1 alleles can be distinguished on the basis of their adjacent simple repeats. We found group-specific organization of the repeats: the DRw52 supergroup repeats differ from those of DRB1*0101, DRB4*0101, and DRB5*0101 alleles and from those of pseudogenes. Finally, we amplified baboon DNA and found a DRB allele with extensive similarity to DRB1 sequences of the DRw52 supergroup. The simple repeat of the baboon gene, however, resembles that of human pseudogenes. In addition to further subtyping, the parallel study of polymorphic protein and hypervariable DNA alleles may allow conclusions to be drawn on the relationships between the DRB genes and perhaps also on the theory of trans-species evolution.The nucleotide sequence data reported in this paper have been submitted to the GenBank nucleotide sequence database and have been assigned the accession number M 34258. 相似文献
32.
33.
Marcelo Hermes-Lima Ana Claudia Tessis Adalberto Vieyra 《Origins of life and evolution of the biosphere》1990,20(1):27-41
In this paper it is shown that the adsorption of 5-adenosine monophosphate (5-AMP) onto precipitated calcium phosphate exhibits a sigmoidal profile as revealed by isotherms at 45 °C. This result indicates a cooperative behavior in the adsorption of 5-AMP. The relationship between adsorption capacity and surface area of the sedimented matrix may be interpreted as an indication that there is a monolayer of the adsorbed nucleotide on the solid surface. The pH dependence of adsorption suggests that the negatively charged phosphoryl group of 5-AMP interacts with a positively charged site (possibly Ca2+) on the matrix surface. The adsorption of the nucleotide is markedly decreased at pH values above 8.0. The Dixon-like plot of the effect of pH suggests an inhibitory role of hydroxyl ions in the adsorption of 5-AMP. At pH 7.5, other anions such as pyrophosphate, tripolyphosphate and carbamyl phosphate also inhibit the adsorption of the nucleotide, probably by interacting with its adsorption site. We suggest that these phosphorylated molecules could have played a role in chemical evolution by modulating the amount of nucleotides adsorbed onto mineral surfaces. The significance of these phenomena in chemical evolution is discussed. 相似文献
34.
The adsorption of 5′-AMP onto precipitated calcium phosphate (CaPi) requires the presence of soluble calcium and this dependence
exhibits a Michaelian-like behavior. This result suggests that the formation of a complex between 5′-AMP and free Ca2+ (CaAMP) is a prelude to the adsorption of the nucleotide in the solid matrix. At concentrations one order of magnitude higher,
Mn2+ and Mg2+ can substitute for soluble Ca2+ in the adsorption of 5′-AMP onto solid CaPi. However, when added simultaneously with 5′-AMP to a heterogeneous mixture that
contains CaPi and soluble Ca2+, Mn2+ and Mg2+ inhibit the adsorption of 5′-AMP in a concentration-dependent manner. This suggests the formation of complexes that are much
less effective for 5′-AMP adsorption than the CaAMP complex. On the other hand, Mn2+ and Mg2+ cannot promote desorption of the nucleotide attached to the precipitate in the presence of soluble Ca2+ if they are added after adsorption has attained equilibrium. Although desorption of 5′-AMP can be obtained by a sequential
dilution of the soluble phase with buffer and no nucleotide in a process that obeys a Langmuir equation, the lack of effect
of Mn2+ or Mg2+ when adsorption has attained its maximal value suggests strong interactions between the CaAMP complex and the solid matrix
when adsorption equilibrium is reached. The divalent cations present in the matrix also participate with different selectivity
in the attachment of the CaAMP complex, indicating that a cation-exchange mechanism could have acted in the modulation of
adsorptive/desorptive processes involving biomonomers and phosphate surfaces in primitive aqueous environments.
Received: 11 December 1995 / Accepted: 5 April 1996 相似文献
35.
Xp-duplications with and without sex reversal 总被引:5,自引:0,他引:5
Annette Baumstark Gotthold Barbi Mahmoud Djalali Claudia Geerkens Beate Mitulla Torsten Mattfeldt José Carlos Cabral de Almeida Fernando Regla Vargas Juan Clinton Llerena Jr Walther Vogel Walter Just 《Human genetics》1996,97(1):79-86
Duplications in Xp including the DSS (dosage sensitive sex reversal) region cause male to female sex reversal. We investigated two patients from families with Xp duplications. The first case was one of two sisters with karyotype 46,XY, der(22), t(X;22)(p11.3;p11)mat and unambiguous female genitalia. The living sister was developmentally retarded, and showed multiple dysmorphic features and an acrocallosal syndrome. The second case was a boy with a maternally inherited direct duplication of Xp21.3-pter with the breakpoint close to the DSS locus. He had multiple abnormalities and micropenis, but otherwise unambiguous male genitalia. We performed quantitative Southern blot analysis with probes from Xp22.13 to p21.2 to define the duplicated region. Clinical, cytogenetic, and molecular data from both patients were compared with those of previously reported related cases. A comparison of the extragenital symptoms revealed no differences between patients with or without sex reversal. In both cases, the symptoms were non-specific. Among 22 patients with a duplication in Xp, nine had unambiguous female genitalia and a well-documented duplication of the DSS region. Two patients with duplication of DSS showed ambiguous external genitalia. From these data, we conclude that induction of testicular tissue may start in these patients, but that the type of genitalia depends on the degree of subsequent degeneration by a gene in DSS. 相似文献
36.
Claudia Gaspar Iscia Lopes-Cendes Anita L. DeStefano Patrícia Maciel Isabel Silveira Paula Coutinho Patrick MacLeod Jorge Sequeiros Lindsay A. Farrer G. A. Rouleau 《Human genetics》1996,98(5):620-624
Machado-Joseph disease (MJD) is an autosomal dominant spinocerebellar degeneration originally described in families of Portuguese-Azorean
ancestry. The hypothesis that its present world distribution could result from the spread of an original founder mutation
has been raised. To test this possibility we have conducted a linkage disequilibrium study of markers segregating with the
MJD1 locus in a total of 64 unrelated families of different geographical origins. Significant association was detected between
the MJD1 locus and marker alleles at loci D14S280, D14S1050 and D14S81. All affected individuals, except one Chinese family, had allele
3 (237 bp) at D14S280. This finding is consistent with a founder effect in our MJD population. However, distinct haplotypes
were observed in patients originating from the two Azorean islands showing the highest disease prevalence; therefore, the
possible existence of more than one founder mutation can not be excluded with the markers currently available.
Received: 27 February 1996 / Revised: 4 June 1996 相似文献
37.
Maria Claudia Gonzalez Deniselle Susana L. Gonzalez Gerardo G. Piroli Analia E. Lima Alejandro F. De Nicola 《Cellular and molecular neurobiology》1996,16(1):61-72
Summary 1. Wobbler mice suffer an autosomal recessive mutation producing severe motoneuron degeneration and dense astrogliosis, with
increased levels of glial fibrillary acidic protein (GFAP) in the spinal cord and brain stem. They have been considered animal
models of amyotrophic lateral sclerosis and infantile spinal muscular atrophy.
2. Using Wobbler mice and normal littermates, we investigated the effects of the membrane-active steroid Lazaroid U-74389F
on the number of GFAP-expressing astrocytes and glucocorticoid receptors (GR). Lazaroids are inhibitors of oxygen radical-induced
lipid peroxidation, and proved beneficial in cases of CNS injury and ischemia.
3. Four days after pellet implantation of U-74389F into Wobbler mice, hyperplasia and hypertophy of GFAP-expressing astrocytes
were apparent in the spinal cord ventral and dorsal horn, areas showing already intense astrogliosis in untreated Wobbler
mice. In control mice, U-74389F also produced astrocyte hyperplasia and hypertophy in the dorsal horn and hyperplasia in the
ventral-lateral funiculi of the cord.
4. Givenin vivo U-74389F did not change GR in spinal cord of Wobbler or control mice, in line with the concept that it is active in membranes
but does not bind to GR. Besides, U-74390F did not compete for [3H]dexamethasone binding when addedin vitro.
5. The results suggest that stimulation of proliferation and size of GFAP-expressing astrocytes by U-74389F may be a novel
mechanism of action of this compound. The Wobbler mouse may be a valuable animal model for further pharmacological testing
of glucocorticoid and nonglucocorticoid steroids in neurodegenerative diseases. 相似文献
38.
Jörg Dreessen Claudia Lutum Beat W. Schäfer Claus W. Heizmann Thomas Knöpfel 《Cell calcium》1996,19(6):527-533
We investigated whether the expression of human α-parvalbumin affects depolarization-induced elevations of the cytosolic free calcium concentration ([Ca2+]i) in human neuroblastoma SKNBE2 cells. A full length human parvalbumin cDNA was cloned by PCR from human cerebellum and transiently transfected into SKNBE2 cells. Immunofluorescence staining using an antibody raised against parvalbumin revealed a transfection efficacy of about 14%. In parvalbumin-expressing SKNBE2 cells, parvalbumin concentration determined by quantitative Western blotting amounted to 0.42 mM.Transfected SKNBE2 cells were depolarized for 2 min by 50 mM K+. During this period, [Ca2+]i was monitored by video microfluorimetry using the Ca2+ indicator Fura-2. In a fraction of cells, depolarization induced a transient elevation in [Ca2+]i The size of this elevation was compared with the immunofluorimetrically determined expression of parvalbumin on a cell-to-cell basis. Cells with a significant parvalbumin immunofluorescence responded to depolarization with smaller elevations in [Ca2+]i than non-parvalbumin-expressing cells. Resting [Ca 2+], did not differ between parvalbumin-expressing and control cells. These observations indicate that large depolarization-induced transient elevations of [Ca2+]i in neuroblastoma cells can be suppressed by parvalbumin. 相似文献
39.
A strain ofFusarium solani sensu Snyder & Hansen invaded the eggs of the insectPanstrongylus geniculatus in a vivarium. None of the invaded eggs hatched. To establish experimentally the pathogenicity of thisFusarium species against the eggs ofP. geniculatus, the fungus and the eggs were incubated together under different relative humidities and temperatures. At 64% relative humidity and 26 °C, the fungus grew well colonizing and penetrating all of the chorions.Three embryos died and were also colonized byF. solani. Only 4 nymphs hatched and survived to day 20. It is concluded that the isolate ofF. solani was capable of colonizing and invading the chorion of the eggs under certain humidity and temperature conditions and cause the death of the embryos. 相似文献
40.
A Familial Factor Independent of CAG Repeat Length Influences Age at Onset of Machado-Joseph Disease 总被引:3,自引:0,他引:3
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Anita L. DeStefano L. Adrienne Cupples Patricia Maciel Claudia Gaspar Joao Radvany David M. Dawson Lewis Sudarsky Lee Corwin Paula Coutinho Patrick MacLeod Jorge Sequeiros Guy A. Rouleau Lindsay A. Farrer 《American journal of human genetics》1996,59(1):119-127
Machado-Joseph disease (MJD) is a late-onset, progressive, neurodegenerative disorder caused by the expansion of an unstable trinucleotide (CAG) repeat sequence in a novel gene (MJD1) on chromosome 14. Previous studies showed that age at onset is negatively correlated with the number of CAG repeat units, but only part of the variation in onset age is explained by CAG repeat length. Ages at onset and CAG repeat lengths of 136 MJD patients from 23 kindreds of Portuguese descent were analyzed, to determine whether familial factors independent of CAG repeat length modulate age at onset of MJD. Correlation among sibs for onset age adjusted for CAG repeat length was .43, which indicates that an environmental or genetic factor common to sibs influences onset age. Positive correlations were also observed for avuncular (r = .22) and first-cousin pairs (r = .28), which supports the hypothesis that a genetic factor is influencing age at onset. Commingling analysis of onset ages adjusted for CAG repeat length identified three distributions in this population of affected individuals. Further studies of a much larger sample are needed to determine whether these distributions represent the influence of a genetic or environmental factor. 相似文献