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21.
Chromosomal DNA from 23 closely related, pathogenic strains of Escherichia
coli was digested and probed for the insertion sequences IS1, IS2, IS4,
IS5, and IS30. Under the assumption that elements residing in DNA
restriction fragments of the same apparent length are identical by descent,
parsimony analysis of these characters yielded a unique phylogenetic tree.
This analysis not only distinguished among bacterial strains that were
otherwise identical in their biochemical characteristics and enzyme
electrophoretic mobilities, but certain aspects of the topology of the tree
were consistent across several unrelated insertion elements. The
distribution of IS elements was then reexamined in light of the inferred
phylogenetic relationships to investigate the biological properties of the
elements, such as rates of insertion and deletion, and to discover apparent
recombinational events. The analysis shows that the pattern of distribution
of insertion elements in the bacterial genome is sufficiently stable for
epidemiological studies. Although the rate of recombination by conjugation
has been postulated to be low, at least two such events appear to have
taken place.
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22.
P. M. Thomas N. Wohllk E. Huang U. Kuhnle W. Rabl R. F. Gagel G. J. Cote 《American journal of human genetics》1996,59(3):510-518
Familial persistent hyperinsulinemic hypoglycemia of infancy is a disorder of glucose homeostasis and is characterized by unregulated insulin secretion and profound hypoglycemia. Loss-of-function mutations in the second nucleotide-binding fold of the sulfonylurea receptor, a subunit of the pancreatic-islet beta-cell ATP-dependent potassium channel, has been demonstrated to be causative for persistent hyperinsulinemic hypoglycemia of infancy. We now describe three additional mutations in the first nucleotide-binding fold of the sulfonylurea-receptor gene. One point mutation disrupts the highly conserved Walker A motif of the first nucleotide-binding-fold region. The other two mutations occur in noncoding sequences required for RNA processing and are predicted to disrupt the normal splicing pathway of the sulfonylurea-receptor mRNA precursor. These data suggest that both nucleotide-binding-fold regions of the sulfonylurea receptor are required for normal regulation of beta-cell ATP-dependent potassium channel activity and insulin secretion. 相似文献
23.
Bharat Rekhi Sophia George Bhulaxmi Madur RF Chinoy Rajesh Dikshit Amita Maheshwari 《Diagnostic pathology》2008,3(1):1-7
Introduction
Intravascular lesions of the hand comprise reactive and neoplastic entities. The clinical diagnosis of such lesions is often difficult, and usually requires pathologic examination. We present the largest series to date of intravascular lesions affecting the hand.Methods
A retrospective review of intravascular (arterial and venous) lesions involving the hand was conducted. Data regarding clinicopathologic findings were analyzed.Results
We identified 10 patients with intravascular lesions of their hands including thromboemboli (n = 3), reactive intravascular conditions such as papillary endothelial hyperplasia or Masson's tumor (n = 2) and fasciitis (n = 1), as well as vascular neoplasms including pyogenic granuloma (n = 2) and angioleiomyoma (n = 2).Conclusion
Blood vessel injury and/or venous thrombosis may predispose to several intravascular lesions of the hand. Recognition of reactive entities from neoplastic conditions is important. 相似文献24.
25.
An intron enhancer containing a 5' splice site sequence in the human calcitonin/calcitonin gene-related peptide gene. 总被引:3,自引:1,他引:3 下载免费PDF全文
Regulation of calcitonin (CT)/calcitonin gene-related peptide (CGRP) RNA processing involves the use of alternative 3' terminal exons. In most tissues and cell lines, the CT terminal exon is recognized. In an attempt to define regulatory sequences involved in the utilization of the CT-specific terminal exon, we performed deletion and mutation analyses of a mini-gene construct that contains the CT terminal exon and mimics the CT processing choice in vivo. These studies identified a 127-nucleotide intron enhancer located approximately 150 nucleotides downstream of the CT exon poly(A) cleavage site that is required for recognition of the exon. The enhancer contains an essential and conserved 5' splice site sequence. Mutation of the splice site resulted in diminished utilization of the CT-specific terminal exon and increased skipping of the CT exon in both the mini-gene and in the natural CT/CGRP gene. Other components of the intron enhancer modified utilization of the CT-specific terminal exon and were necessary to prevent utilization of the 5' splice site within the intron enhancer as an actual splice site directing cryptic splicing. Conservation of the intron enhancer in three mammalian species suggests an important role for this intron element in the regulation of CT/CGRP processing and an expanded role for intronic 5' splice site sequences in the regulation of RNA processing. 相似文献
26.
27.
We have investigated the morphological effects of a genetic locus, Pgm1- t,
that affects the expression of a phosphoglucomutase locus (Pgm1) in liver
of rainbow trout (Salmo gairdneri). We have previously shown that embryos
with liver Pgm1 expression hatch earlier than those without liver Pgm1
expression. We predicted that this difference in developmental rate should
cause a reduction in meristic counts in the more rapidly developing fish
with liver Pgm1 expression. Eight meristic (countable) characters in nine
full-sib groups segregating for the presence or absence of liver Pgm1
expression are in agreement with this prediction. In eight of the nine
families, there is a significant difference in the multivariate
distribution of the eight meristic counts between full sibs with and
without liver Pgm1 expression. This separation in multivariate space is
based on a tendency for lower meristic counts in fish with liver Pgm1
expression. The magnitude of these morphological differences is similar to
that between two subspecies of cutthroat trout (Salmo clarki) that show
substantial genetic divergence at structural loci encoding enzymes (Nei's D
= 0.34). These data support the view that small changes in the
developmental process caused by genetic differences at regulatory genes can
have large effects on morphology.
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28.
The regulation of somatostatin production in human medullary thyroid carcinoma cells by dexamethasone 总被引:2,自引:0,他引:2
G J Cote W N Palmer K Leonhart S S Leong R F Gagel 《The Journal of biological chemistry》1986,261(28):12930-12935
There have been few studies of physiological importance on the regulation of somatostatin by hormones. We have studied the effect of the synthetic glucocorticoid dexamethasone on somatostatin production in the human medullary thyroid carcinoma TT cell line, a model for somatostatin production by the parafollicular cell. Dexamethasone inhibited somatostatin production in a dose-related manner with a maximal effect at a concentration of 10(-6) M. TT cells treated with dexamethasone (10(-6) M) showed an almost complete inhibition of somatostatin peptide production by 48 h of treatment. Molecular sizing chromatography demonstrated a decrease in both the probable somatostatin precursor (13,000 dalton) and the fully processed peptide. Analysis of mRNA content by hybridization revealed that dexamethasone also caused a decrease in detectable somatostatin mRNA. The hybridizable somatostatin mRNA decreased to approximately 50% of basal levels within 12 h of treatment. Northern blot hybridization showed a decrease in a single RNA species representing mature somatostatin mRNA. Dose-response experiments revealed inhibition of both peptide and mRNA at concentrations from 1 X 10(-8) to 1 X 10(-5) M dexamethasone. Four days after withdrawal from dexamethasone treatment, peptide and mRNA levels were higher than dexamethasone-treated controls. The sex steroid estradiol had no inhibitory effect on somatostatin production. These results suggest a potential regulator of somatostatin production and provide a system for the study of somatostatin gene regulation. 相似文献
29.
The clinical and screening age-at-onset distribution for the MEN-2 syndrome. 总被引:8,自引:5,他引:3 下载免费PDF全文
D F Easton M A Ponder T Cummings R F Gagel H H Hansen S Reichlin A H Tashjian Jr M Telenius-Berg B A Ponder 《American journal of human genetics》1989,44(2):208-215
The decision to screen for multiple endocrine neoplasia type 2 (MEN-2) is generally based on family history, the rationale for this approach being the presumed 100% penetrance of the disease. To determine the validity of this presumption we have estimated--by applying modifications of the life-table method--the clinical and screening age-at-diagnosis distributions for MEN-2, using families from the Cancer Research Campaign Medullary Thyroid Cancer Register and one large American family. The clinical penetrance of MEN-2 is shown to be incomplete, an estimated 41% of gene carriers not presenting with symptoms by age 70 on the basis of clinical history. Screening by the standard tests for detecting the earliest manifestations of the syndrome increases the penetrance to an estimated 93% by age 31. There is no evidence of a difference in the age-at-diagnosis distributions between maternal and paternal transmission, or among different families, but there is some suggestion of an earlier onset of medullary thyroid cancer in female gene carriers, and of a tendency of pheochromocytoma to cluster in families. These results can be used to calculate risks to relatives of affected individuals, which in turn can be used to guide decisions on which individuals to screen. 相似文献
30.