Search results for "Chromosome Segregation"
showing 6 items of 16 documents
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome
2018
International audience; Locus heterogeneity characterizes a variety of skeletal dysplasias often due to interacting or overlapping signaling pathways. Robinow syndrome is a skeletal disorder historically refractory to molecular diagnosis, potentially stemming from substantial genetic heterogeneity. All current known pathogenic variants reside in genes within the noncanonical Wnt signaling pathway including ROR2, WNT5A, and more recently, DVL1 and DVL3. However, ∼70% of autosomal-dominant Robinow syndrome cases remain molecularly unsolved. To investigate this missing heritability, we recruited 21 families with at least one family member clinically diagnosed with Robinow or Robinow-like pheno…
ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia
2013
Anophthalmia and microphthalmia (A/M) are early-eye-development anomalies resulting in absent or small ocular globes, respectively. A/M anomalies occur in syndromic or nonsyndromic forms. They are genetically heterogeneous, some mutations in some genes being responsible for both anophthalmia and microphthalmia. Using a combination of homozygosity mapping, exome sequencing, and Sanger sequencing, we identified homozygosity for one splice-site and two missense mutations in the gene encoding the A3 isoform of the aldehyde dehydrogenase 1 (ALDH1A3) in three consanguineous families segregating A/M with occasional orbital cystic, neurological, and cardiac anomalies. ALDH1A3 is a key enzyme in the…
Mapping of genetic loci that change pheromone discrimination in Drosophila males
2002
0016-6723 (Print) Comparative Study Journal Article Research Support, Non-U.S. Gov't; Reproduction in individual animals of sexual species depends largely upon their ability to detect and distinguish specific signal(s) among those produced by various potential sexual partners. In Drosophila melanogaster males, there is a natural polymorphism for discrimination of female and male principal pheromones that segregates with chromosome 3. We have mapped two loci on chromosome 3 that change sex-pheromone discrimination in males. We successively exploited meiotic recombination, deficiencies and enhancer-trap strains; excision of the transposon in two selected enhancer-trap strains clearly reverted…
ABCC transporters mediate insect resistance to multiple Bt toxins revealed by bulk segregant analysis
2014
[EN] Background: Relatively recent evidence indicates that ABCC2 transporters play a main role in the mode of action of Bacillus thuringiensis (Bt) Cry1A-type proteins. Mapping of major Cry1A resistance genes has linked resistance to the ABCC2 locus in Heliothis virescens, Plutella xylostella, Trichoplusia ni and Bombyx mori, and mutations in this gene have been found in three of these Bt-resistant strains. Results: We have used a colony of Spodoptera exigua (Xen-R) highly resistant to a Bt commercial bioinsecticide to identify regions in the S. exigua genome containing loci for major resistance genes by using bulk segregant analysis (BSA). Results reveal a region containing three genes fro…
A new self-compatibility haplotype in the sweet cherry 'Kronio', S5' attributable to a pollen-part mutation in the SFB gene
2008
‘Kronio’ is a Sicilian cultivar of sweet cherry (Prunus avium), nominally with the incompatibility genotype S 5 S 6 , that is reported to be naturally self-compatible. In this work the cause of its self-compatibility was investigated. Test selfing confirmed self-compatibility and provided embryos for analysis; PCR with consensus primers designed to amplify S-RNase and SFB alleles showed that the embryos were of two types, S 5 S 5 and S 5 S 6 , indicating that S 6 pollen failed, but S 5 succeeded, perhaps because of a mutation in the pollen or stylar component. Stylar RNase analysis indicated active S-RNases for both S 5 and S 6 . The S-RNase alleles were cloned and sequenced; and sequences …
Endoreduplication induced in cultured Chinese hamster cells by different anti-topoisomerase II chemicals
2005
With the ultimate purpose of testing the hypothesis that, as shown in yeast mutants, any malfunction of DNA topoisomerase II might result in aberrant mitosis due to defective chromosome segregation, we have chosen three chemicals of different nature, recently reported to catalytically inhibit the enzyme. The endpoint selected to assess any negative effect on the ability of topoisomerase II to properly carry out decatenation of fully replicated chromosomes in the G2/M phase of the cell cycle was the presence of metaphases showing diplochromosomes as a result of endoreduplication, i.e. two successive rounds of DNA replication without intervening mitosis. The anti-topoisomerase drugs selected …