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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
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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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Jonas Krber Itka Bkouche-Waksman Claudine Pascard Martina Thomann Olivier Kahn 《Inorganica chimica acta》1995,230(1-2):159-163
ZnCl2 reacts with 1,2,4-1H-triazole to afford Zn(trz)Cl. A spontaneous deprotonation of Htrz occurs. The crystal structure of Zn(trz)Cl has been solved. The compound crystallizes in the space group P21/n. The lattice parameters are a = 8.863(4), B = 9.762(4), C = 6.146(3) Å, β = 99.56(10)°, with Z = 4. The 1,2,4-triazolato bridges three zinc atoms through its three nitrogen atoms, affording a layered structure. The zinc atom is in an N3Cl tetrahedral coordination. The layers are not planar, but rather corrugated. The chlorine atoms point to either side of the layers, and play the role of spacers. The shortest interlayer ZnZn separation is 5.701 Å. 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
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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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