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11.
The proα2 (V) collagen gene (COL5A2) maps to 2q14→2q32, syntenic to the proα1 (III) collagen locus (COL3A1) 总被引:3,自引:0,他引:3
Cécile Huerre-Jeanpierre Isabelle Henry M. Bernard Pia Gallano Dominique Weil K. H. Grzeschik F. Ramirez Claudine Junien 《Human genetics》1986,73(1):64-67
Summary A recombinant probe specific for the pro2 chain of human Type V collagen has been used for the localization of the corresponding gene (COL5A2) to chromosome 2. Regional mapping by in situ hybridization and analysis of DNA from humanxrodent cell lines indicated that COL5A2 is confined within the segment 2q142q32, thus syntenic to the pro1 (III) collagen gene (COL3A1). 相似文献
12.
Simone Gilgenkrantz Claudine Blanchet-Bardon V. Nazzaro Lorena Formiga Patricia Mujica Y. Alembik 《Human genetics》1989,81(2):120-122
Summary A family carrying the X-linked gene for hypohidrotic ectodermal dysplasia (hereditary ectodermal polydysplasia or Christ-Siemens-Touraine syndrome) over three generations was monitored for more than 15 years. Two prenatal diagnoses were carried out by fetoscopy on skin biopsies. Polymorphic probes were used in the segregation analysis of the Xq11–21 region carried out on 30 members of the family. Current screening possiblitities for the carriers and prenatal diagnosis are discussed. 相似文献
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The general amino acid permease, Gap1, of Saccharomyces cerevisiae is very active in cells grown on proline as the sole nitrogen source. Adding NH4 + to the medium triggers inactivation and degradation of the permease via a regulatory process involving Npi1p/Rsp5p, a ubiquitin–protein ligase. In this study, we describe several mutations affecting the C-terminal region of Gap1p that render the permease resistant to NH4 + -induced inactivation. An in vivo isolated mutation ( gap1 pgr ) causes a single Glu→Lys substitution in an amino acid context similar to the DXKSS sequence involved in ubiquitination and endocytosis of the yeast α-factor receptor, Ste2p. Another replacement, substitution of two alanines for a di-leucine motif, likewise protects the Gap1 permease against NH4 + -induced inactivation. In mammalian cells, such a motif is involved in the internalization of several cell-surface proteins. These data provide the first indication that a di-leucine motif influences the function of a plasma membrane protein in yeast. Mutagenesis of a putative phosphorylation site upstream from the di-leucine motif altered neither the activity nor the regulation of the permease. In contrast, deletion of the last eleven amino acids of Gap1p, a region conserved in other amino acid permeases, conferred resistance to NH4 + inactivation. Although the C-terminal region of Gap1p plays an important role in nitrogen control of activity, it was not sufficient to confer this regulation to two NH4 + -insensitive permeases, namely the arginine (Can1p) and uracil (Fur4p) permeases. 相似文献
17.
Del11p13/nephroblastoma without aniridia 总被引:6,自引:0,他引:6
Catherine Turleau J. de Grouchy Claire Nihoul-Fékété J. L. Dufier Françoise Chavin-Colin Claudine Junien 《Human genetics》1984,67(4):455-456
Summary A patient is reported with del11p13, low catalase level, nephroblastoma, chordee and cryptorchidism, no evident mental retardation, and with normal irides. This unique observation suggests the following order of loci in 11p13, from centromere to telomere: catalase, Wilms tumor, aniridia. The chromosomal origin of nephroblastoma may be more frequent than estimated on the basis of its association with aniridia. 相似文献
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Christiane Guguen-Guillouzo Marie-France Szanjnert Denise Glaiser Claudine Gregori Fanny Schapira 《In vitro cellular & developmental biology. Plant》1981,17(5):369-377
Summary Aldolase and pyruvate kinase isozymes were investigated in cultured hepatocytes from fetal, regenerating, and 2-acetyl-aminofluorene-fed
rat liver as well as in some epithelial liver cell lines. Our results show that: (a) cell proliferation and prolonged expression
of specific isozymes were found only in cultured hepatocytes from 17-day old fetuses; (b) the fetal type of pyruvate kinase
expressed in regenerating and carcinogen-treated liver was temporarily lost only in cultured hepatocytes from regenerating
liver; (c) the adult type of aldolase and pyruvate kinase was absent in one epithelial cell line derived from a carcinogen-treated
liver and in the hepatoma tissue cell (HTC) line but was found in the Faza clone of the Reuber H35 cell line during the 50 first passages in vitro; and (d) the isozyme pattern of pyruvate kinase was always more strongly
shifted than that of aldolase.
The observations suggest that: (a) hepatocytes from carcinogen-treated liver exhibit the same lack of ability to proliferate
in primary culture as normal adult hepatocytes; (b) adult hepatocytes can produce fetal isozymes without prior cell division;
(c) pyruvate kinase is a stronger marker of dedifferentiation (retrodifferentiation) than aldolase; and (d) regulatory processes
of isozyme expression are different during ontogenesis, regeneration, and hepatocarcinogenesis.
This work was supported by the “Institut National de la Santé et de la Recherche Médicale” and the “Fondation pour la Recherche
Medicale Fran?aise” 相似文献
20.
Summary Red cell triose-phosphate isomerase (TPI) was determined, together with other enzymes, in three patients with chromosome 12 abnormalities.In patient No. 1 (trisomy of the segment 12pter 12q12) and in patient No. 2 (trisomy of the segment 12pter 12p12.1), the TPI activity was significantly increased. In patient No. 3 (deletion of the segment 12p11 12p12.2), the TPI activity was in the normal range. These results suggest that the human TPI locus is located on the chromosome 12 short arm, between 12pter and 12p12.2.Directeur de Recherches à l'I.N.S.E.R.M. 相似文献