Search results for "inversion"

Plasticity of human chromosome 3 during primate evolution.

2004

Comparative mapping of more than 100 region-specific clones from human chromosome 3 in Bornean and Sumatran orangutans, siamang gibbon, and Old and New World monkeys allowed us to reconstruct ancestral simian and hominoid chromosomes. A single paracentric inversion derives chromosome 1 of the Old World monkey Presbytis cristata from the simian ancestor. In the New World monkey Callithrix geoffroyi and siamang, the ancestor diverged on multiple chromosomes, through utilizing different breakpoints. One shared and two independent inversions derive Bornean orangutan 2 and human 3, implying that neither Bornean orangutans nor humans have conserved the ancestral chromosome form. The inversions, f…

Inherited pericentric inversion of human chromosome 5.

1983

Une inversion pericentrique heterozygote du chromosome 5 a ete decouverte dans les cellules de la moelle osseuse et dans les lymphocytes peripheriques stimules par le phytohemagglutinine d'une femme de 75 ans atteinte de myelofibrose et de metaplasie myeloide. L'inversion etait presente dans 100% des metaphases etudiees. Les points de cessure du chromosome 5 etaient localises en k15 et q10. Une etude de la famille est presentee

Mixture analysis using SWaP™ SNPs and non-biallelic SNPs

2006

Abstract Improved analysis of degraded samples, increased throughput, and a wider choice of typing platforms are some of the significant advantages offered by single nucleotide polymorphism (SNP) genotyping over established short tandem repeat (STR)-based systems. However, DNA mixtures present a considerable problem to SNP analysis as there is currently no generally accepted technique that allows recognition of the presence of a mixed profile or identification of the individual contributors. We present the first demonstration of SNP mixture analysis with an approach based upon the use of two rare subsets of SNPs: SWaP™ SNPs and non-biallelic SNPs and discuss their value for forensic mixture…

Healthy 12-year-old boy with mosaic inv dup(15)(q13)

2006

Polymorphisms of inversions and Adh alleles in eye colour mutant experimental populations of Drosophila melanogaster

1987

Brief communication. Karyotype analysis, banding, and fluorescent in situ hybridization in the scarab beetle Gymnopleurus sturmi McLeay (Coleoptera S…

2000

Conventional staining, differential banding, and in situ hybridization with both ribosomal and telomeric probes to mitotic chromosomes of Gymnopleurus sturmi (Scarabaeoidea : Scarabaeidae) are described. The karyotype is distinguished by a pericentric inversion polymorphism in chromosome 3, which is either acrocentric or subtelocentric. Silver staining (Ag-NOR) and chromomycin A3 (CMA3), failed to study the detection of nucleolar organizer regions (NORs), due to the extensive silver and CMA3 stainability of all GC-rich heterochromatin. Fluorescent in situ hybridization (FISH) using a Paracentrotus lividus (Echinodermata) rDNA probe mapped the ribosomal RNA genes (rDNA). FISH with the all-hu…

PATTERNS OF PUFFING ACTIVITY AND CHROMOSOMAL POLYMORPHISM IN DROSOPHILA SUBOBSCURA . IV. EFFECT OF INVERSIONS ON GENE EXPRESSION

1988

We have observed that, contrary to a common assumption, the puffing patterns manifest in the salivary chromosomes of Drosophila subobscura are modified by chromosomal inversions as well as by genic content. An inversion effect is apparent in the E and A chromosomes of five strains coming from four different natural populations. An effect due to the geographical location of the populations is also detected in the J and O chromosomes. The chromosomal and geographic effects are distinguishable but not contradictory. Indeed, a statistical test using the DK2 coefficient of distance shows that, for a given chromosomal arrangement, strains of different geographic origin exhibit puffing patterns si…

Genomic structure and paralogous regions of the inversion breakpoint occurring between human chromosome 3p12.3 and orangutan chromosome 2.

2003

Intrachromosomal duplications play a significant role in human genome pathology and evolution. To better understand the molecular basis of evolutionary chromosome rearrangements, we performed molecular cytogenetic and sequence analyses of the breakpoint region that distinguishes human chromosome 3p12.3 and orangutan chromosome 2. FISH with region-specific BAC clones demonstrated that the breakpoint-flanking sequences are duplicated intrachromosomally on orangutan 2 and human 3q21 as well as at many pericentromeric and subtelomeric sites throughout the genomes. Breakage and rearrangement of the human 3p12.3-homologous region in the orangutan lineage were associated with a partial loss of dup…

Massive LINE-1 retrotransposon enrichment in tamarins of the Cebidae family (Platyrrhini, Primates) and its significance for genome evolution

2021

To study heterochromatin distribution differences among tamarins, we applied LINE-1 probes using fluorescence in situ hybridization onto chromosomes of Saguinus mystax, Leontocebus fuscicollis, and Leontopithecus rosalia with the aim to investigate possible evolutionary implications. LINE-1 repeats were shown to be involved in genome architecture and in the occurrence of chromosomal rearrangements in many vertebrates. We found bright LINE-1 probe signals at centromeric or pericentromeric areas, GC rich, on almost all chromosomes in three tamarin species. We also found non-centromeric signals along chromosome arms. In a phylogenetic perspective, we analyzed the pattern of LINE-1 distribution…

Appraisal of geodynamic inversion results: a data mining approach

2016

Abstract Bayesian sampling based inversions require many thousands or even millions of forward models, depending on how nonlinear or non-unique the inverse problem is, and how many unknowns are involved. The result of such a probabilistic inversion is not a single ‘best-fit’ model, but rather a probability distribution that is represented by the entire model ensemble. Often, a geophysical inverse problem is non-unique, and the corresponding posterior distribution is multimodal, meaning that the distribution consists of clusters with similar models that represent the observations equally well. In these cases, we would like to visualize the characteristic model properties within each of these…