Mutant chromosome positioning. Medical search. Frequent questions

Here, we identified two genes of maize defective kernel mutants with user-friendly analysis pipelines that require no programming and should be applicable to any large genome. (usda.gov)
In the 1970s, Neuffer and Sheridan generated a chemically induced "defective kernel" (dek) mutant collection with the potential to uncover critical genes for seed development. (usda.gov)
Consistent with a broad role in transcriptional regulation, the expression of a large number of genes is altered in Iswi mutant larvae. (ca.gov)
Despite the differences in their normal roles, these genes all contribute to unregulated cell division if they are present in a mutant (oncogenic) form. (cancerquest.org)
SATAY (1) reveals negative and positive genetic connections in one and multiple mutant strains, (2) can recognize drug goals, (3) detects not merely essential genes, but important proteins domains also, (4) creates both null and various other informative alleles. (informationalwebs.com)
Characterization of two genes required for the position-effect control of yeast mating-type genes. (ox.ac.uk)
We have determined the DNA sequence of two fragments which complement mutations in the SIR2 and SIR3 genes and show that these contain the structural genes by mapping the cloned sequences onto the yeast chromosome. (ox.ac.uk)
Of the genes that lie within chromosome area defined by the microsatellite markers the most likely genes to be involved with this strain are. (edu.au)
The genes coding for alpha and beta globin chains are located on chromosome 16 and chromosome 11, respectively. (medscape.com)
Sickle cell anemia is a homozygous-recessive disorder, that is, the individual receives two mutant genes that code for the variant beta globin chain. (medscape.com)

Thus, mutations of a structural gene should produce loss of function mutations where the gene product is absent or non-functional, gain of function mutations where the functional properties of the gene product is changed, and position effect mutations where a breakpoint near the gene reduces expression of a normal gene product. (wikipedia.org)
We generated two pipelines that take fastq files derived from nextGen paired-endDNA or cDNA sequencing as input, call on several well established and freely available genomic tools to call SNPs and INDELs, and generate lists of the most likely causal mutations together with variant index plots to locate the mutation to a specific sequence position on a chromosome. (usda.gov)
Protein null mutations vig(EP812) and vig2(PL470) act as modifiers of Position Effect Variegation (PEV). (wustl.edu)
Mutations within the gene are induced and identified by various techniques and only subsequently is the mutant phenotype analyzed [ 1 ]. (biomedcentral.com)
Segregation analysis and exclusion of the mutations T224R and T369S in 100 control subjects (200 chromosomes) was performed by restriction fragment length polymorphism (RFLP) analysis of PCR-amplified fragments, including all available family members. (jneurosci.org)
The concept of mutation was coined by Hugo De Vries in 1901, whom worked with plants species of the genus Oenothera where he discovered some phenotypic hereditary characteristics that he coined as "mutations" and "mutants" to those individuals that have these phenotypic alterations. (intechopen.com)
X-linked hypophosphatemic rickets and autosomal recessive hypophosphatemic rickets are the result of mutations in PHEX (a phosphate-regulating gene with homologies to endopeptidases on the X chromosome) and dentin matrix protein 1 ( DMP1 ), respectively. (medscape.com)

Back in the 70s, researchers were able to position the luxoid mutation on mouse chromosome 9. (sciencedaily.com)

The mitotic spindle ensures the faithful segregation of chromosomes. (nature.com)
The mitotic spindle is a dynamic microtubule-based apparatus that ensures the segregation of chromosomes during cell division. (nature.com)
Crossing over between homologs is critical for the stable segregation of chromosomes during the first meiotic division. (bvsalud.org)

We found that deletion of NUP2 delayed pairing and synapsis during meiosis, and led to decreased spore viability, similar to the ndj1Δ mutant phenotype. (biorxiv.org)
Strains mutant in dif, xerC, or xerD, share a characteristic phenotype, containing a variable fraction of filamentous cells with aberrantly positioned and sized nucleoids. (gla.ac.uk)
This has been well described in Drosophila with respect to eye color and is known as position effect variegation (PEV).The phenotype is well characterised by unstable expression of a gene that results in the red eye coloration. (definitions.net)
Such null mutants of both SIR2 and SIR3 are defective in the position-effect control of the silent loci but have no other detectable phenotype. (ox.ac.uk)
Surprisingly, coexpression of this mutant subunit with CNGB3 rescues the channel phenotype, except for the Ca 2+ interaction. (jneurosci.org)
An insertional mutant exhibiting the same phenotype as my was produced as a by-product of a transgenic experiment and was subsequently shown to be allelic with my. (ucl.ac.uk)
Further studies on the "insertional mutant" indicated that the observed mutant phenotype was not associated with the transgene insertion but was probably due to a spontaneous mutation occurring at the time of the transgenic experiment. (ucl.ac.uk)

The expression of a dominant-negative form of ISWI leads to dramatic alterations in higher-order chromatin structure, including the apparent decondensation of both mitotic and polytene chromosomes. (ca.gov)
VIG and Vig2 are present in polytene chromosomes and partially overlap with HP1. (wustl.edu)

Prior to the first meiotic division, homologous chromosomes pair, synapse, and recombine to ensure their proper disjunction at anaphase I. Additionally, telomeres tethered at the nuclear envelope cluster in the bouquet configuration where they are subjected to dramatic pulling forces acting from outside of the nucleus. (biorxiv.org)
Any number of homologous recombination events between linear homologous chromosomes generates linear products that have the same overall structure as their parents. (gla.ac.uk)

Salkoff also combined voltage-clamp technique with genetic analysis to reveal the location of the Shaker gene on the Drosophila polytene chromosome map. (wikipedia.org)
This success story is mainly founded on countless so-called forward genetic screens designed to elucidate gene functions on the basis of their mutant phenotypes. (biomedcentral.com)
None of the body neurons examined show any defects in the ten-1(ok641) mutant, but genetic interaction studies reveal that ten-1(ok641) is synthetic lethal with sax-3, unc-34 and unc-73 , and examination of the hypodermal cells in embryos of the ten-1(ok641) mutant point to a role of ten-1 during hypodermal cell morphogenesis. (biomedcentral.com)
Candida genetic screens possess classically been performed by random mutagenesis, followed by a selection process that identifies interesting mutants. (informationalwebs.com)
Genome-wide CRISPR screening reveals genetic modifiers of mutant EGFR dependence in human NSCLC. (cdc.gov)
Genetic testing encompasses a broad range of laboratory tests performed to analyze DNA, RNA, chromosomes, proteins, and certain metabolites using biochemical, cytogenetic, or molecular methods or a combination of these methods. (cdc.gov)

In Escherichia coli and related bacteria, we believe that both plasmids and the bacterial chromosome use site-specific recombination to convert multimers to monomers. (gla.ac.uk)
The replication terminus region of the E. coli chromosome encodes a locus, dif, that is required for normal chromosome segregation at cell division, dif is a substrate for site-specific recombination catalysed by the related chromosomally encoded recombinases XerC and XerD. (gla.ac.uk)
It has been proposed that this recombination converts chromosome multimers formed by homologous recombination back to monomers in order that they can be segregated prior to cell division. (gla.ac.uk)
It is shown that the only DNA sequences required for wild-type dif function in the terminus region of the chromosome are contained within 33 bp known to bind XerC and XerD, and that certain active site residues of the Xer proteins known to be involved in the catalysis of recombination are required for normal chromosome segregation. (gla.ac.uk)
Since neither the dif/Xer, nor the loxP/Cie system caused this suppression when located in other positions on the chromosome, close to oriC or within lacZ, this reinforces the idea that site-specific recombination must occur in the terminus region in order to allow normal chromosome segregation. (gla.ac.uk)
We measure recombination along the chromosome arms in lines differing in patterns of heterozygosity and observe a MSH2-dependent crossover increase at the boundaries between heterozygous and homozygous regions. (bvsalud.org)

Using samples collected during 2004-2008, we investigated the evolutionary origin of the A581G mutation by characterizing microsatellite diversity flanking Pfdhps triple-mutant (437G+540E+581G) alleles from 3 locations in eastern Africa and comparing it with double-mutant (437G+540E) alleles from the same area. (cdc.gov)
Both siblings carry two mutant CNGA3 alleles that give rise to channel subunits with different single-amino acid substitutions. (jneurosci.org)
Because those patients retain some cone function, we reasoned that mutant alleles encode functional channel subunits that alter the human cone visual pathway in characteristic ways. (jneurosci.org)

Top) The Pfatp6 locus on chromosome 1. (2medicalcare.com)

Together, our results reveal that regulation of crossover patterning in wild-type and SC defective mutants likely act through the same underlying coarsening mechanism, differing only in the spatial compartments through which the pro-crossover factor diffuses. (babraham.ac.uk)
A defective oncogene would be analogous to a gas pedal that is stuck in the 'on' position. (cancerquest.org)
Thanks largely to the world-class research team of scientists and physicians, the defective gene responsible for cystic fibrosis was found in human chromosome No. 7. (autm.net)

FFI is an autosomal dominant disease that harbors a missense GAC to AAC mutation at codon 178 of the PRNP prion protein gene located on chromosome 20, along with the presence of the methionine polymorphism at position 129 of the mutant allele. (owlapps.net)
This mutant, which we called boygirl ( byg ), was shown to contain an early stop codon that disrupts the autosomal gene encoding MAP3K4, a component of the mitogen-activated protein kinase (MAPK) signaling pathway. (plos.org)
Before the discovery, scientists knew that the faulty gene was somewhere in the 22 pairs of autosomal chromosomes, not the x or y sex chromosome. (autm.net)

To understand how MSH2 regulates crossovers formed by the two pathways, we combined Arabidopsis mutants that elevate non-interfering crossovers with msh2 mutants. (bvsalud.org)
We show that the loss of Arabidopsis HEIP1 elicits a marked reduction in meiotic COs and their redistribution toward chromosome ends. (bvsalud.org)

We previously isolated a C. elegans mutant where one pharyngeal neuron was frequently misplaced, and now show that it corresponds to a novel allele of ten-1 . (biomedcentral.com)

The events of meiotic prophase follow a specialized round of DNA replication when the meiotic chromosome axis is formed. (biorxiv.org)
DnaAcos, a mutant of the initiator DnaA, causes overinitiation of chromosome replication in Escherichia coli, resulting in inhibition of cell division. (elsevierpure.com)

FFI is also invariably linked to the presence of the methionine codon at position 129 of the mutant allele, whereas fCJD is linked to the presence of the valine codon at that position. (owlapps.net)
however, a novel microsatellite allele incorporated into the Tanzania lineage since 2004 illustrates the local expansion of emergent triple-mutant lineages. (cdc.gov)

In all spindles, the microtubule cytoskeleton connects to chromosomes via a special class of microtubules called kinetochore microtubules (KMTs). (nature.com)

As a graduate student he worked on the shibire mutant and characterized its defects in synaptic transmission. (wikipedia.org)
Chromosome segregation errors during meiosis are the leading cause of birth defects and developmental delays in humans ( H assold and H unt 2001 ). (biorxiv.org)
To clarify the role of ISWI in vivo, we examined defects in chromosome structure and gene expression resulting from the loss of Iswi function in Drosophila. (ca.gov)
ten-1 mutants have defects in all pharyngeal neurons that we examined, and in vivo reporters show that only the long form of the ten-1 gene is expressed in the pharynx, specifically in six marginal cells and the M2 neurons. (biomedcentral.com)
These ten-1 mutants are reported to have defects in the growth of several axons and in the development of the gonads and epidermis, and these defects correlated with disruptions in the extracellular matrix (ECM). (biomedcentral.com)

Additionally, we find that a model combining both SC- and nucleoplasm-mediated coarsening can explain crossover patterning in wild-type and in mutants, which display partial synapsis. (babraham.ac.uk)

The pipelines were validated with a known strawberry mutation before cloning the dek mutants, thereby enabling phenotypic analysis of large genomes by next-generation sequencing. (usda.gov)

This has been well described in Drosophila with respect to eye color and is known as position effect variegation. (definitions.net)

Position effect is also used to describe the variation of expression exhibited by identical transgenes that insert into different regions of a genome. (definitions.net)
Position effect refers to the phenomenon in genetics where the physical position of a gene on a chromosome or within the genome influences its expression or mutation rate. (definitions.net)

In budding yeast, single continuous KMTs span the full pole-to-chromosome distance 6 . (nature.com)
A more detailed analysis of the critical region around my will allow the isolation of Yeast Artificial Chromosomes (YACs) which span the region and facilitate the subsequent physical mapping and gene isolation. (ucl.ac.uk)

In , an obligate crossover and repression of nearby crossovers on each chromosome pair are abolished in mutants that lack the synaptonemal complex (SC), a conserved protein scaffold. (babraham.ac.uk)

Utilising fly genetics, this study generated the first Drosophila model of human wild-type and P460L mutant EphA1 and tested the effects of Eph /ephrin signalling on AD-relevant behaviour and neurophysiology. (sdbonline.org)

The mutant proteins often retain some of their capabilities but are no longer sensitive to the controls that regulate the normal form of the protein. (cancerquest.org)

Surprisingly, the nup2Δ ndj1Δ double mutant failed to segregate chromosomes, even though the meiotic program continued. (biorxiv.org)
It is characterized by the A581G Pfdhps mutation on a background of the double-mutant Pfdhps and the triple-mutant Pfdhfr . (cdc.gov)
Uganda and Tanzania triple mutants derived from the previously characterized southeastern Africa double-mutant lineage. (cdc.gov)

In the case of chromosomal origin, microtubules instead nucleate around chromosomes and only later attach to kinetochores, as observed in Xenopus cell-free extracts 13 . (nature.com)

Position of microsatellite markers in centiMorgans. (edu.au)
Position of microsatellite markers in Megabases. (edu.au)

The positions and orientations of the primers on chromosome 1 and the plasmid are shown. (2medicalcare.com)

Based on these findings Salkoff began a genomic DNA "walk" along the chromosome to clone the Shaker gene in conjunction with Patrick H. O'Farrell and Lily Jan but moved to Washington University before the project was finished. (wikipedia.org)
The position of the probe used for genomic Southern blotting is also marked. (2medicalcare.com)

Linear chromosomes, for example those of eukaryotes, have evolved mechanisms to ensure that chromosome ends are protected from exonucleolytic attack and can be replicated completely. (gla.ac.uk)

The disease occurs when there is a change of amino acid at position 178 when an asparagine (N) is found instead of the normal aspartic acid (D). This has to be accompanied with a methionine at position 129. (owlapps.net)
In sickle cell anemia, the amino acid substitution valine for glutamate occurs on the beta chain at the sixth position. (medscape.com)
Specifically, it replaces the amino acid glycine with the amino acid serine at protein position 59 (written as Gly59Ser or G59S). (medlineplus.gov)
The DCTN1 gene mutation associated with this disorder replaces the amino acid arginine with the amino acid lysine at protein position 1101 (written as Arg1101Lys or R1101K). (medlineplus.gov)

In contrast, we find that binding to phosphatidylinositol-4,5-bisphosphate (PI(4,5)P(2)) model membranes is 2.5-fold decreased for the mutant PTEN in comparison to wild-type PTEN. (nih.gov)
EphA1 mis-expression did not cause neurodegeneration, shorten lifespan or affect memory but flies mis-expressing the wild-type or mutant receptor were hyper-aroused, had reduced sleep , a stronger circadian rhythm and increased clock neuron activity and excitability. (sdbonline.org)

However, how KMTs bind to chromosomes varies substantially between organisms. (nature.com)

In mammals, whether an individual develops as a male or female depends on its sex chromosome constitution: those with a Y chromosome become males because of the development of the embryonic gonad into a testis. (plos.org)

Position effect is the effect on the expression of a gene when its location in a chromosome is changed, often by translocation. (definitions.net)
Expression analysis of mutant XY gonads at the same stage also reveals a dramatic reduction in Sox9 and, crucially, Sry at the transcript and protein levels. (plos.org)
Heterologous expression revealed that only one mutant forms functional channels, albeit with grossly altered properties, including changes in Ca 2+ blockage and permeation. (jneurosci.org)

One of his predoctoral students, Bill Buaas, was reading journal articles from decades ago when he came across a description of a mutant line of mice that originated in the 1950s. (sciencedaily.com)
Green, a well-known mouse geneticist who died several years ago, had several embryos from the 35th generation of the mice frozen at the Jackson Laboratory in Maine, the world's largest mutant mouse resource center. (sciencedaily.com)
Mutant mice are identified by genotyping or phenotyping. (edu.au)

mutant HIM-8 fails to suppress mutant egl-13 on a free transgenic array, and also fails to suppress native mutant egl-13 if transgenic excess copies of the egl-13 promoter are present. (nih.gov)

A . Schematic of the bouquet configuration of chromosomes during meiotic prophase I. The spatial arrangement of chromosomes with telomeres clustered and attached at the inner nuclear membrane is shown. (biorxiv.org)
Many tools were designed to delimit objects in 2D and eventually in 3D, to define their shapes, their number or position in nuclear space. (brookes.ac.uk)

The family returned to England where David accepted a position from Charles Whittingham to work on isolating fully functional chloroplasts. (nartsignaling.com)

Nor-Carotenoid, Rhizobium lupini The mutant strain 1-289 of Rhizobium lupini containes in addition to the normal carotenoid pattern a violet carotenoid whose structure was derived by MS and 270 1 H-NMR as 2′,3′-trans-dihydroxy-2-nor-β,β-carotene-3,4-dione. (degruyter.com)

Remarkably, despite the high turnover of microtubules throughout mitosis 2 , the spindle maintains its bipolar structure with the chromosomes at its center and two poles that are separated by the plane of cell division. (nature.com)
The lipolysaccharides of two mutants of Salmonella minnesota with known chemical structure were investigated by X-ray methods. (degruyter.com)
Imitation SWI (ISWI) and other ATP-dependent chromatin-remodeling factors play key roles in transcription and other processes by altering the structure and positioning of nucleosomes. (ca.gov)

The gene PRNP that provides instructions for making the prion protein PrP C is located on the short (p) arm of chromosome 20 at position p13. (owlapps.net)

While our light microscopy and mutant studies show that microtubules are nucleated from the centrosomes, we find only a few KMTs directly connected to the centrosomes. (nature.com)
In toto , our results show that the connection between centrosomes and chromosomes is mediated by an anchoring into the entire spindle network and that any direct connections through KMTs are few and likely very transient. (nature.com)
Quantitative immunoblots show depletion of HP1 and HP2 (large isoform) in isolated nuclei from the vig(EP812) mutant. (wustl.edu)
In this study, we show that a reduction in the levels of the JIL-1 histone H3S10 kinase results in the spreading of the major heterochromatin markers dimethyl H3K9 and HP1 to ectopic locations on the chromosome arms, with the most pronounced increase on the X chromosomes. (silverchair.com)

In the mutant flies the eyes typically have a mottled appearance of white and red sectors. (definitions.net)

Based on these results, several cedA mutants were examined in ability for repressing dnaAcos cell division inhibition. (elsevierpure.com)
These results suggest that CedA has multiple roles and residues with different functions are positioned in the two regions. (elsevierpure.com)

This backcross analysis has defined the map position of my on mouse Chr 3 relative to DNA markers. (ucl.ac.uk)

Anatomy61

Organisms13

Diseases21

Chemicals and Drugs38

Analytical, Diagnostic and Therapeutic Techniques and Equipment26

Phenomena and Processes166

Disciplines and Occupations1

Information Science4

Health Care1

Genes10

Mutations7

Mutation on mouse chromosome1

Segregation of chromosomes3

Phenotype7

Polytene chromosomes2

Homologous chromosomes2

Genetic6

Recombination6

Alleles3

Locus1

Defective3

Autosomal3

Arabidopsis2

Elegans1

Replication2

Allele2

Cytoskeleton1

Defects5

Synapsis1

Phenotypic1

Effect variegation1

Genome2

Yeast2

Crossovers1

Drosophila1

Proteins1

Double mutant3

Chromosomal1

Microsatellite2

Primers1

Genomic2

Ends1

Amino4

Wild-type2

Bind1

Males1

Expression3

Mice3

Copies1

Nuclear2

Functional1

Normal1

Structure3

Protein1

Show4

Flies1

Results2

Analysis1