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1.
Catherine Bonaïti-Pellié Françoise Clerget-Darpoux Marie-Claude Babron 《Human genetics》1990,86(2):203-208
Summary Although the retinoblastoma gene has been isolated and sequenced, the difference in penetrance and expressivity among families has not yet been fully explained. Balanced chromosomal insertion involving the 13q14 regions has been shown to account for some families with several unaffected carriers. Since there could be cases with karyotypically undetectable insertions, we tested whether this mechanism was general enough to explain the whole difference in expressivity among families. Using 166 pedigrees, reported in nine series available in the literature (including our own), we conclude that balanced insertion cannot entirely explain the familial data, even if we allow for a reduced viability of unbalanced gametes. Other mechanisms are proposed and discussed in this paper. 相似文献
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3.
Marie-Claude Pepin Serge Beaulieu Nicholas Barden 《Cellular and molecular neurobiology》1990,10(2):227-235
1. Differential regulation, by dexamethasone, of glucocorticoid receptor gene expression was studied in three different neuronal cultures derived from hypothalamus amygdala, and cerebral cortex. 2. Cellular glucocorticoid receptor (GR) mRNA concentration was measured by hybridization using a 32P-labeled RNA probe complementary to a 2.2-kb fragment of the glucocorticoid receptor mRNA. Changes in the amount of GR mRNA were evaluated in relation to the content of beta-actin mRNA. 3. In cells derived from either hypothalamus or cerebral cortex, we observed a complex pattern of GR mRNA concentrations which were characterized by cyclic variations of GR mRNA content during continuous treatment with dexamethasone for up to 72 hr. 4. In contrast to cells derived from the hypothalamus where a persistent 30-40% reduction in GR mRNA levels was seen for up to a least 72 hr, we observed, in cells derived from the cerebral cortex, a sustained increased (1.4-fold) of the GR mRNA at this same time interval. 相似文献
4.
Rhida M'Rad Marek Sanak Georges Deschenes Jing Zhou Catherine Bonaiti-Pellie Laurent Holvoet-Vermaut Solange Heuertz Marie-Claire Gubler Michel Broyer Jean-Pierre Grunfeld Karl Tryggvason Marie-Claude Hors-Cayla 《Human genetics》1992,90(4):420-426
Thirty one families with Alport syndrome including 3 families with associated syndromes were studied. The location of the COL4A5 gene, responsible for the Alport syndrome, was determined by linkage analysis with eight probes of the Xq arm and by a radiation hybrid panel. Concordant data indicated the localization of the Alport gene between DXS17 and DXS11. Four deletions and one single base mutation of the COL4A5 gene were detected. Homogeneity tests failed to show any evidence of genetic heterogeneity superimposed on clinical heterogeneity for ophthalmic signs and end-stage renal disease age. 相似文献
5.
Marie-Geneviève Mattei Agnès Moreau Marie-Claude Gesnel Elisabeth Houssaint Richard Breathnach 《Human genetics》1991,87(1):84-86
Summary A 2.3-kb cDNA probe for the human bek fibroblast growth factor receptor was used to determine the chromosomal localization of the corresponding gene by in situ hybridization. The results show that this gene, a form of which is amplified in some poorly differentiated stomach cancers, is localized on chromosome region 10q26. The two previously identified fibroblast growth factor receptor genes are thus not on the same chromosome, as the related fig (fms-like gene) fibrovblast growth factor receptor gene has previously been mapped to human chromosome region 8p12. 相似文献
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Martijn A. Huynen 《Journal of molecular evolution》1996,43(3):165-169
RNA secondary-structure folding algorithms predict the existence of connected networks of RNA sequences with identical secondary
structures. Fitness landscapes that are based on the mapping between RNA sequence and RNA secondary structure hence have many
neutral paths. A neutral walk on these fitness landscapes gives access to a virtually unlimited number of secondary structures
that are a single point mutation from the neutral path. This shows that neutral evolution explores phenotype space and can
play a role in adaptation.
Received: 23 December 1995 / Accepted: 17 March 1996 相似文献
8.
Jan Hendrickx Paul Coucke Marie-Claude Hors-Cayla G. Peter A. Smit Yoon S. Shin Johann Deutsch Jan Smeitink Ruud Berger Philip Lee John Fernandes Patrick J. Willems 《Genomics》1994,21(3)
We describe here a new type of X-linked liver glycogen storage disease. The main symptoms include liver enlargement and growth retardation. The clinical and biochemical abnormalities of this glycogenosis are similar to those of classical X-linked liver glycogenosis due to phosphorylase kinase deficiency (XLG). However, in contrast to patients with XLG, the patients described here have no reduced phosphorylase kinase activity in erythrocytes and leukocytes, and no enzyme deficiency could be found. Linkage analysis of four families with this X-linked type of liver glycogenosis assigned the disease gene to Xp22. Lod scores obtained with the markers DXS987, DXS207, and DXS999 were 3.97, 2.71, and 2.40, respectively, all at 0% recombination. Multipoint linkage analysis localized the disease gene between DXS143 and DXS989 with a maximum lod score of 4.70 at θ = 0, relative to DXS987. As both the classical XLG gene and the liver α-subunit of PHK (PHKA2) are also located in Xp22, this variant type of XLG may be allelic to classical XLG, and both diseases may be caused by mutations in PHKA2. Therefore, we propose to classify XLG as XLG type I (the classical type of XLG) and XLG type II (the variant type of XLG). 相似文献
9.
Isabelle Goebel-Tourand Marie-Claude Mauro Lucienne Sossountzov Emile Miginiac Alain Deloire 《Plant Cell, Tissue and Organ Culture》1993,33(1):91-103
In an effort to understand the causes of arrest of somatic embryo development, generally observed in grapevine (Vitis sp.), histological studies were undertaken, using two cultivars (CH76 and 41B) which differ in their ability to develop into plants. Embryos with a high conversion rate (70%; CH76) formed a well-structured and functional shoot apex between two thread-like cotyledons. In contrast, embryos with a low conversion rate (10%; 41B) formed a normal root apex but lacked a well-structured shoot apex and developed a wide range of aberrant forms in the intercotyledonary area: uncontrolled cellular proliferation, formation of adventitious buds, over-growth of cotyledonary or leaf meristems. ABA increased the conversion rate of 41B embryos from 10% to 20%, but failed to improve embryo morphology. Zeatin and BAP promoted growth of 41B somatic embryos, but generated a high level of abnormalities and failed to improve conversion rate. Applied in combination with ABA, these PGRs increased the frequency of cotyledonary embryos, but decreased the conversion rate. 相似文献
10.