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Snider Chloe E CE Department of Biology, University of North Carolina at Chapel Hill, Chapel Hill, NC - - 2014
Condensin is enriched in the pericentromere of budding yeast chromosomes where it is constrained to the spindle axis in metaphase. Pericentric condensin contributes to chromatin compaction, resistance to microtubule-based spindle forces, and spindle length and variance regulation. Condensin is clustered along the spindle axis in a heterogeneous fashion. We demonstrate ...
Bakshi Somenath S Department of Chemistry, University of Wisconsin-Madison, Madison, WI - - 2014
Previously observed effects of rifampicin and chloramphenicol indicate that transcription and translation activity strongly affect the coarse spatial organization of the bacterial cytoplasm. Single-cell, time-resolved, quantitative imaging of chromosome and ribosome spatial distributions and ribosome diffusion in live E. coli provides insight into the underlying mechanisms. Monte Carlo simulations of ...
Mattos Viviane Fagundes VF 1 Universidade Estadual Paulista, UNESP, Instituto de Biociências, Departamento de Biologia, Avenida 24-A, 1515, Caixa Postal 199, 13506-900, Rio Claro, Sao Paulo, - - 2014
Buthid scorpions exhibit a high variability in diploid number within genera and even within species. Cytogenetically, Buthidae differs from other families of Scorpiones based on its low diploid numbers, holocentric chromosomes, and complex chromosomal chains, which form during meiosis. In this study, we analyzed the distribution of the 45S ribosomal ...
- - 2012
COVER FIGURE The figure displays the map of the deletions in chromosomal band 1q44 identified by aCGH. Black horizontal bars indicate the deletions in the 11 patients with ID and seizures. The vertical region shaded in red indicates the smallest region of overlap (SRO) implicated in ID and seizures; yellow ...
Jelsig Anne Marie - - 2012
We present a de novo 1.4 Mb deletion of chromosome 19p13.11-p13.12 in a 15 year old boy with intellectual disability, autistic features, microcephaly, hearing impairment, hypertrichosis, synophrys, protruding front teeth, and other dysmorphic features. By comparing our patient to reported cases with overlapping deletions, we have refined the minimal critical ...
Sun Florence F - - 2012
Balancer chromosomes are critical tools for Drosophila genetics. Many useful transgenes are inserted onto balancers using a random and inefficient process. Here we describe balancer chromosomes that can be directly targeted with transgenes of interest via recombinase-mediated cassette exchange (RMCE).
Paskulin Giorgio Adriano - - 2011
Carriers of paracentric inversions (PAIs) are usually asymptomatic. However, such inversions may lead to the formation of recombinant gametes and then to an abnormal gestation. Here we report a girl with a 7q31.32 → q33 deletion secondary to a maternal PAI of chromosome 7. This finding was confirmed through FISH and whole-genome ...
Pegueroles C - - 2010
A huge amount of data seem to confirm the adaptive value of inversions in Drosophila. The inhibition of recombination in heterokaryotypes mediated by inversions seems fundamental in maintaining their adaptive role. This study shows that recombination is highly suppressed in Drosophila subobscura because of chromosomal inversions, not only inside the ...
Northup Jill K - - 2010
Goldenhar syndrome, also called hemifacial microsomia or oculo-auriculo-verterbal dysplasia (OAVS) (MIM 164210), is a birth defect involving the first and second branchial arch derivatives with an incidence of 1/5000. The variable phenotype includes mostly unilateral deformity of the external ear and small ipsilateral half of the face with epibulbar dermoid ...
Ayala Diego - - 2011
Chromosomal polymorphisms, such as inversions, are presumably involved in the rapid adaptation of populations to local environmental conditions. Reduced recombination between alternative arrangements in heterozygotes may protect sets of locally adapted genes, promoting ecological divergence and potentially leading to reproductive isolation and speciation. Through a comparative analysis of chromosomal inversions ...
Jeong Seon-Yong - - 2010
The pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal variations and has been found in both normal populations and patients with various abnormal phenotypes and diseases. The aim of this study was to re-evaluate the clinical impact of inv(9)(p11q13). We studied the karyotypes of ...
Rafael Míriam S - - 2010
New photomap of Anopheles (Nyssorhynchus) darlingi Root, 1926, is described for a population from Guajará-Mirim, State of Rondonia, Brazil. The number of sections in the previous A. darlingi reference map was maintained and new subsections were added to the five chromosome arms. Breakage points of paracentric inversions had been previously ...
Sharakhova Maria V MV Department of Entomology, Virginia Tech, Blacksburg, VA 24061, United - - 2011
Anopheles nili is one of the major malaria vectors in Africa with a wide geographic distribution. However, the taxonomic and population genetic studies on this species are scarce. New research tools are urgently needed to genetically characterize this important malaria vector. In this study, a high-resolution cytogenetic map was developed ...
Huynh L Y LY Graduate Program in Population Biology, Ecology and Evolution, Emory University, Atlanta, GA, - - 2011
Chromosomal inversions have been of long-standing interest to geneticists because they are capable of suppressing recombination and facilitating the formation of adaptive gene complexes. An exceptional inversion polymorphism (ZAL2(m)) in the white-throated sparrow (Zonotrichia albicollis) is linked to variation in plumage, social behavior and mate choice, and is maintained in ...
Hobart Holly H - - 2010
Williams syndrome (WS) is a multisystem disorder caused by deletion of about 1.55 Mb of DNA (including 26 genes) on chromosome 7q11.23, a region predisposed to recombination due to its genomic structure. Deletion of the Williams syndrome chromosome region (WSCR) occurs sporadically. To better define chance for familial recurrence and ...
Zivanovic Goran - - 2010
Here we report the viability of natural chromosomal O-inversion structural homo- and heterokaryotypes in a population of D. subobscura from Avala Mountain, Serbia, subjected to cold and heat stress during spring 2004. These results were compared with those observed in the same population in September 2004. We detected protection of ...
Zivanovic Goran - - 2010
The interactions of lethal and non-lethal genes and their contributions to the viability of Drosophila inversion karyotypes are not well understood. This is especially true under variable environmental conditions. Here we examine the viability of natural chromosomal O-inversion homo- and heterokaryotypes in a D. subobscura population from Avala Mountain, Serbia. ...
Vargas-González Roberto - - 2010
Abstract Juvenile polyposis of infancy is a rare genetic disorder, involving multiple hamartomatous polyps of the gastrointestinal tract, which usually has a very aggressive clinical course and is often fatal. It is characterized by early onset (during the 1st months of life) and by diffuse juvenile polyposis with anemia, recurrent ...
Descipio Cheryl C Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, - - 2010
Two brothers, with dissimilar clinical features, were each found to have different abnormalities of chromosome 20 by subtelomere fluorescence in situ hybridization (FISH). The proband had deletion of 20p subtelomere and duplication of 20q subtelomere, while his brother was found to have a duplication of 20p subtelomere and deletion of ...
Coyne Sébastien - - 2010
Pseudomonas aeruginosa is a major human opportunistic pathogen, especially for patients in intensive care units or with cystic fibrosis. Multidrug resistance is a common feature of this species. In a previous study we detected the ant(4')-IIb gene in six multiresistant clinical isolates of P. aeruginosa, and determination of the environment ...
Prontera P - - 2010
A pericentric inversion of chromosome 18 [inv(18)(p11.32q22)] and its recombinants has been studied in a three-generation family. A mother/son couple, carrying the rec dup(18q), showed dysmorphisms and short stature but only the son had mild mental retardation and speech delay. Karyotype, FISH analysis with subtelomeric probes and a 0.8 Mb ...
Bosch Nina - - 2010
[This corrects the article on p. e8269 in vol. 4.].
Frohnauer Judith - - 2010
Typical Williams-Beuren syndrome (WBS) is commonly caused by a ~1.5 Mb - ~1.8 Mb heterozygous deletion of contiguous genes at chromosome region 7q11.23. The majority of WBS cases occurs sporadically but few familial cases of autosomal dominant inheritance have been reported. Recent data demonstrated the existence of the paracentric inversion ...
Xia Ai - - 2010
Nonrandom distribution of rearrangements is a common feature of eukaryotic chromosomes that is not well understood in terms of genome organization and evolution. In the major African malaria vector Anopheles gambiae, polymorphic inversions are highly nonuniformly distributed among five chromosomal arms and are associated with epidemiologically important adaptations. However, it ...
Rao P N - - 2010
The chromosomal band 17q21.31, containing the microtubule-associated protein tau (MAPT) gene, is a hotspot for chromosomal rearrangements. It is known to contain a common inversion polymorphism of approximately 900 kb in populations with European ancestry. The inverted configuration is linked to a distinct MAPT haplotype, H2, which is relatively common ...
Lowry David B - - 2010
The role of chromosomal inversions in adaptation and speciation is controversial. Historically, inversions were thought to contribute to these processes either by directly causing hybrid sterility or by facilitating the maintenance of co-adapted gene complexes. Because inversions suppress recombination when heterozygous, a recently proposed local adaptation mechanism predicts that they ...
Lobo Neil F - - 2010
Alternative arrangements of chromosome 2 inversions in Anopheles gambiae are important sources of population structure, and are associated with adaptation to environmental heterogeneity. The forces responsible for their origin and maintenance are incompletely understood. Molecular characterization of inversion breakpoints provides insight into how they arose, and provides the basis for ...
Fragata I - - 2010
In fewer than two decades after invading the Americas, the fly Drosophila subobscura evolved latitudinal clines for chromosomal inversion frequencies and wing size that are parallel to the long-standing ones in native Palearctic populations. By sharp contrast, wing shape clines also evolved in the New World, but the relationship with ...
Dobigny G - - 2010
By suppressing recombination and reducing gene flow, chromosome inversions favor the capture and protection of advantageous allelic combinations, leading to adaptive polymorphisms. However, studies in non-model species remain scarce. Here we investigate the distribution of inversion polymorphisms in the multimammate rat Mastomys erythroleucus in West Africa. More than 270 individuals ...
Stevens Servi J C - - 2009
Genotypic and phenotypic data are presented on three adult siblings with mild to moderate mental retardation and mild dysmorphic features. All three siblings showed a chromosome 20 gain at the q-telomere and loss at the p-telomere in routine subtelomeric MLPA screening. Analysis of GTG-banded chromosomes did not detect any abnormalities, ...
Rego Carla - - 2010
Latitudinal clines in the frequency of various chromosomal inversions are well documented in Drosophila subobscura. Because these clines are roughly parallel on three continents, they have undoubtedly evolved by natural selection. Here, we address whether individuals carrying different chromosomal arrangements also vary in their thermal preferences (T(p)) and heat stress ...
Feder Jeffrey L - - 2009
Many factors can promote speciation, and one which has received much attention is chromosomal inversions. A number of models propose that the recombination suppressing effects of inversions facilitate the maintenance of differences between interbreeding populations in genes affecting adaptive divergence and reproductive isolation. These models predict that such genes will ...
White Bradley J - - 2009
In the malaria mosquito Anopheles gambiae polymorphic chromosomal inversions may play an important role in adaptation to environmental variation. Recently, we used microarray-based divergence mapping combined with targeted resequencing to map nucleotide differentiation between alternative arrangements of the 2La inversion. Here, we applied the same technique to four different polymorphic ...
Brown Kerry K KK Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, - - 2009
In an effort to discover genes important for human development, we have ascertained patients with congenital anomalies and cytogenetically balanced chromosomal rearrangements. Herein, we report a 4-year-old girl with profound deafness, a history of feeding difficulties, dysmorphism, strabismus, developmental delay, and an apparently balanced de novo paracentric chromosome 5 inversion, ...
Warren Robert - - 2009
The genome halving problem, previously solved by El-Mabrouk for inversions and reciprocal translocations, is here solved in a more general context allowing transpositions and block interchange as well, for genomes including multiple linear and circular chromosomes. We apply this to several datasets and compare the results to the previous algorithm.
Udayakumar A M - - 2009
Pericentric inversion of chromosome 9 involving the qh region is relatively common as a constitutional genetic aberration without any apparent phenotypic consequences. However, it has not been established as an acquired abnormality in cancer. Among the three patients reported so far in the literature with acquired inv(9), only one had ...
Guelbeogo Wamdaogo M - - 2009
Previous studies of Anopheles funestus chromosomal inversion polymorphisms in Burkina Faso showed large departures from Hardy-Weinberg equilibrium and linkage disequilibrium among inversions located on different chromosomes, implying the existence of two taxonomic units ("chromosomal forms") with limited genetic flow. One chromosomal form, named Folonzo, is highly polymorphic for alternative rearrangements ...
Delprat Alejandra - - 2009
Transposable elements (TEs) are responsible for the generation of chromosomal inversions in several groups of organisms. However, in Drosophila and other Dipterans, where inversions are abundant both as intraspecific polymorphisms and interspecific fixed differences, the evidence for a role of TEs is scarce. Previous work revealed that the transposon Galileo ...
Katayama Kentaro - - 2009
Koala (Koa) is a dominant mutation in mice causing bushy muzzle and pinna, and is associated with a chromosomal inversion on the distal half of chromosome 15. To identify the gene responsible for the Koa phenotypes, we investigated phenotypes of Koa homozygous mice and determined the breakpoints of the inversion ...
Bosch Nina - - 2009
The human chromosome 8p23.1 region contains a 3.8-4.5 Mb segment which can be found in different orientations (defined as genomic inversion) among individuals. The identification of single nucleotide polymorphisms (SNPs) tightly linked to the genomic orientation of a given region should be useful to indirectly evaluate the genotypes of large ...
Lee Yoosook - - 2009
Anopheles gambiae sensu stricto, one of the principal vectors of malaria, has been divided into two subspecific groups, known as the M and S molecular forms. Recent studies suggest that the M form found in Cameroon is genetically distinct from the M form found in Mali and elsewhere in West ...
Lodder Elisabeth M - - 2009
Apparently balanced chromosomal inversions may lead to disruption of developmentally important genes at the breakpoints of the inversion, causing congenital malformations. Characterization of such inversions may therefore lead to new insights in human development. Here, we report on a de novo inversion of chromosome 7 (p15.2q36.3) in a patient with ...
Simard Frédéric - - 2009
Speciation among members of the Anopheles gambiae complex is thought to be promoted by disruptive selection and ecological divergence acting on sets of adaptation genes protected from recombination by polymorphic paracentric chromosomal inversions. However, shared chromosomal polymorphisms between the M and S molecular forms of An. gambiae and insufficient information ...
Lemaitre Claire - - 2009
The human sex chromosomes have stopped recombining gradually, which has left five evolutionary strata on the X chromosome. Y inversions are thought to have suppressed X-Y recombination but clear evidence is missing. Here, we looked for such evidence by focusing on a region--the X-added region (XAR)--that includes the pseudoautosomal region ...
Hoffmann Ary A - - 2008
There is a growing appreciation that chromosome inversions affect rates of adaptation, speciation, and the evolution of sex chromosomes. Comparative genomic studies have identified many new paracentric inversion polymorphisms. Population models suggest that inversions can spread by reducing recombination between alleles that independently increase fitness, without epistasis or coadaptation. Areas ...
Kuvangkadilok Chaliow - - 2008
Larval polytene chromosomes of 1824 individuals of Simulium siamense Takaoka and Suzuki from 32 locations in northern, northeastern, eastern, and central Thailand were examined. Differences in sex chromosomes, fixed inversions, and the kind and frequency of floating inversions revealed five cytoforms (A, B, C, D, and E). In contrast to ...
Santos Mauro - - 2009
Chromosomal inversions suppress recombination in heterokaryotypes and may help to maintain positive epistatic interactions among groups of alleles at loci contained in the inversion. Here I evaluate the protective effect of inversions on recombination when different chromosomal segments, or even the whole chromosome O of Drosophila subobscura, can be effectively ...
Poot Martin - - 2009
A 32-year-old female patient, observed for 30 years because of a distinctive phenotype consisting of a dysmorphic face non-progressive deficit of motor control, lack of speech development, reduced sensitivity to pain, with a known, complex interstitial deletion 6q14 within a de novo pericentric inversion 6p11.2;q15, was re-examined at the molecular ...
Mentzer Sarah E SE Mammalian Genetics and Genomics Group, Life Sciences Division, Oak Ridge National Laboratory, PO Box 2008, Bethel Valley Road, Oak Ridge, TN 37831-6445, - - 2008
The mouse In(15)2Rl (hairy ears, Eh) mutation is a paracentric inversion of the distal half of chromosome 15 (Chr 15). Heterozygous Eh/+ mice display misshaped and hairy ears that have more and longer hair than the ears of their wild-type littermates. We mapped, cloned and sequenced both inversion breakpoints. No ...
Xia Ai - - 2008
Members of the Anopheles gambiae complex have remarkably distinct ecological adaptations, behaviors, and degrees of vectorial capacity. Inferring phylogenetic relationships in the complex is crucial for identifying the genomic changes associated with the origin and loss of epidemiologically important traits. However, the high level of sequence similarity, genetic introgression, and ...
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