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排序方式: 共有199条查询结果,搜索用时 15 毫秒
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The molecular basis of thalassemia 总被引:1,自引:0,他引:1
B G Forget 《CRC critical reviews in biochemistry》1974,2(3):311-342
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M Garbarz I Devaux B Grandchamp C Picat D Dhermy M C Lecomte P Boivin K E Sahr B Forget 《Comptes rendus de l'Académie des sciences. Série III, Sciences de la vie》1989,308(2):43-48
We have undertaken to identify the spectrin gene mutation in a patient with a severe hemolytic form of Hereditary Elliptocytosis with homozygosity for the spectrin alpha I/74 variant. This variant corresponds to the presence of a 74,000 peptide which is produced during mild tryptic digestion of spectrin by cleavage at the Arginine-39 of the alpha I/80,000 domain of the spectrin alpha chain (595 amino acids). We hypothesized that the alpha I/74 mutation would be closed to the cleavage site Arg-39. A genomic library built with the patient's DNA was screened with a probe corresponding to a fragment of the alpha spectrin gene. Two clones were isolated, one being of paternal, the other of maternal origin. The subclones obtained contained the alpha spectrin gene exons 2 and 3 which encode for the first 88 amino-acids of the spectrin alpha I domain. The sequences obtained did not show any abnormality. The implications of these results are discussed. 相似文献
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Molecular basis and haplotyping of the alphaII domain polymorphisms of spectrin: application to the study of hereditary elliptocytosis and pyropoikilocytosis. 总被引:1,自引:0,他引:1 下载免费PDF全文
P. G. Gallagher L. Kotula Y. Wang S. L. Marchesi P. J. Curtis D. W. Speicher B. G. Forget 《American journal of human genetics》1996,59(2):351-359
Hereditary elliptocytosis (HE) and hereditary pyropoikilocytosis (HPP) are inherited disorders of erythrocyte shape that are frequently associated with abnormalities in alpha-spectrin, one of the principal structural proteins of the erythrocyte membrane skeleton. Five polymorphisms of the alpha-spectrin gene, located in a 6-kb interval of genomic DNA, were identified and analyzed in normal and mutant alpha-spectrin alleles. Three of these polymorphisms are due to single nucleotide substitutions in the alpha-spectrin gene coding region that lead to changes in the amino acid sequence. In combination, these three polymorphisms are responsible for the different peptide phenotypes of the alphaII domain previously observed following limited tryptic digestion of spectrin protein. The most common haplotype, type 1, was found predominantly in Caucasians and was the only haplotype identified in Asians. Haplotypes 2, 3, and 4 were identified predominantly in individuals of African ancestry and were commonly found in patients with HE or HPP. Analysis of coinheritance of alphaII domain polymorphisms with alpha-spectrin gene mutations causing HE or HPP in African-American patients with HE and HPP suggests that, with one exception, a given HE/HPP mutation is present in an alpha-spectrin gene of only one haplotype, indicating a founder effect. The other two polymorphisms located in this region of the alpha-spectrin gene do not change the amino acid sequence of the encoded alpha-spectrin chain and are not in linkage disequilibrium with three of the four alphaII domain haplotypes. A model is proposed for the evolutionary origin of the different haplotypes. 相似文献
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Herman Yeger Diane Forget Jennifer Alami Bryan R. G. Williams 《In vitro cellular & developmental biology. Animal》1996,32(8):496-504
Summary The temporal and spatial expression patterns of the Wilms tumor gene, WT1, were studied during the organogenesis of the mouse
kidneyin vitro. In situ hybridization and immunocytochemistry localized cellular expression of WT1 in whole kidney organ cultures to the induced
metanephric mesenchyme and developing podocytes. Organ cultures were further characterized immunocytochemically with antibodies
that specifically labeled the different tubular epithelial components and supporting mesenchyme of the developing nephrons.
In organ cultures, the WT1 expression pattern could be visualized in induced metanephric mesenchyme and entire cell cohorts
of differentiating podocytes. Expression of WT1 and cell specific markers were retained in short-term monolayer cultures of
dissociated kidneys. The development of the metanephric kidneyin vitro involves a highly restricted temporal and spatial cellular expression pattern of WT1 which closely follows that observed
in tissue sections from gestational kidney isolated during organogenesis in the mouse. 相似文献
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Yasuyuki Fukumaki Prabhat K. Ghosh Edward J. Benz Vemuri B. Reddy Paul Lebowitz Bernard G. Forget Sherman M. Weissman 《Cell》1982,28(3):585-593
The reduced β-globin synthesis characterizing the β+ thalassemia phenotype has been shown to be caused by anomalous processing within the small Intervening sequence (IVS1) of the β-globin mRNA precursor. The β-globin gene from such patients contains a single base substitution within IVS1, located 22 bp from the 3′ junction between IVS1 and exon 2, creating an alternative splice site within IVS1 and resulting in retention of the 3′-terminal 19 bases of IVS1. We have identified this abnormally spliced mRNA in the reticulocyte RNA of two patients with β+ thalassemia, by S1 nuclease mapping and primer-extension analysis. Moreover, a cloned β+-thalassemic gene preferentially generated the anomalously spliced RNA when expressed In monkey kidney cells. The anomalously spliced RNA constituted approximately 80%–90%, and normal β RNA approximately 10%–20%, of the total β mRNA. In contrast, the small amount of β mRNA present in reticulocytes from such patients consisted predominantly of normal β mRNA. These results suggest that the reduced amount of normally functioning β mRNA present in such patients results from preferential processing at the alternative splice site, with subsequent Instability, reduced nuclear processing and/or inadequate cytoplasmic transport of the abnormal RNA species. 相似文献
10.
Nucleotide sequence of 3'' untranslated portion of human alpha globin mRNA. 总被引:9,自引:4,他引:5 下载免费PDF全文
J T Wilson J K deRiel B G Forget C A Marotta S M Weissman 《Nucleic acids research》1977,4(7):2353-2368