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MAGOHB is the top gene dependency in cells with hemizygous MAGOH deletion, a pervasive genetic event that frequently occurs due to chromosome 1p loss. (nih.gov)
According to a hypothesis called «gene dosage disequilibrium», the presence of a third chromosome 21 could influence the expression of all the other genes in the genome. (unige.ch)
The presence of about 1% of extra genetic material in the trisomic cells hence modifies the function of the whole genome, and disrupts the general equilibrium of gene expression. (unige.ch)
In comparison to the Saccharomyces cerevisiae genome, chromosome 2 has a lower gene density, a greater proportion of genes containing introns, and nearly twice as many proteins containing predicted non-globular domains. (jcvi.org)
A group of putative surface proteins was identified, rifins, which are encoded by a gene family comprising up to 7% of the protein-encoding gene in the genome. (jcvi.org)
To indicate the location of a gene on a particular chromosome, the chromosome number is followed by p or q and then a number that represents the band and sub-band. (pearson.com)
This breakthrough will make it possible for other research teams to gain further understanding of the functions of the Y chromosome and how specific gene variants and mutations contribute to specific health conditions and diseases. (darkdaily.com)
Members of the apolipoprotein gene cluster (APOA1/C3/A4/A5) on human chromosome 11q23 play an important role in lipid metabolism. (doe.gov)
Whole genome duplication analyses revealed three putative events, which together with local tandem duplication events, contributed to gene family expa, American beautyberransion of terpene synthases. (datadryad.org)
A novel RNA sequencing dataset was also used to produce a publicly available set of gene annotations using the National Center for Biotechnology Information Eukaryotic Genome Annotation Pipeline. (authorea.com)
In adding so much sequence that was previously missing, we discovered 41 additional genes on the Y chromosome, many of which are part of gene families known to be involved in sperm regulation. (azolifesciences.com)
Although the origin(s) of the extra genes and the supernumerary chromosomes is not known, the gene expansion and its large genome size are consistent with this species' diverse range of habitats. (psu.edu)
Nucleus with chromosomes, DNA molecule (double helix), telomere and gene (length of DNA that codes for a specific protein). (istockphoto.com)
To determine how changes in chromosome positioning affect transcription across thousands of genes with minimal perturbation, we characterized nuclear organization and global gene expression in budding yeast containing chromosome fusions. (hal.science)
These data suggest that basal transcriptional activity is sensitive to radial changes in gene position, and provide insight into the functional relevance of budding yeast chromosome-level 3D organization in gene expression. (hal.science)
We earlier published an independent wheat assembly (Triticum_aestivum_3.1, Chinese Spring) that came much closer in length to the expected genome size, although it was only a contig-level assembly lacking gene annotations. (johnshopkins.edu)
11 SNPs exceeded genome-wide significance with the strongest association with rs12913832 SNP on chromosome 15, mapping to HERC2 gene (p=6.94x10-14). (cdc.gov)
Prenatal Fanconi anemia diagnosis can be accomplished by demonstration of chromosome breaks in cells obtained in utero from chorionic villus biopsy, amniocentesis, or cord blood (by cordocentesis) or by identification of Fanconi anemia gene mutations in DNA extracted from fetal cells. (medscape.com)
correction of chromosome breakage or of impaired growth by a specific vector indicates that the cells have a mutation in that gene. (medscape.com)

Many may be surprised to hear that we were missing this reference piece of the human genome. (azolifesciences.com)

The scientists drew on high-quality genome sequences from 32 living species representing 23 of the 26 known orders of mammals. (bionity.com)
The researchers "applied new DNA sequencing technologies and sequence assembly methods, as well as knowledge gained from generating the first gapless sequences for the other 23 human chromosomes," SciTechDaily reported. (darkdaily.com)
It could have been very chaotic, but instead, nearly half of the chromosome is made of alternating blocks of two specific repeating sequences known as satellite DNA . (darkdaily.com)
We report here the whole-genome sequences of the human-infective Trichuris trichiura and the mouse laboratory model Trichuris muris . (nature.com)
Here we present high-quality genome sequences for T. trichiura and T. muris , the first duo of a major human STH and its mouse counterpart. (nature.com)
We resolve chromosomal sequences and infer sex chromosome-specific parasite genes and new potential drug targets. (nature.com)
Likewise, it is also very hard to assemble parts of a chromosome that are very similar to each other, and the Y chromosome is filled with these types of sequences. (azolifesciences.com)
However, the assembly of high-quality genome sequences is prone to technical artifacts that arise from inaccuracies in the sequencing technology and assembly algorithms. (edu.sa)
The Y chromosome contains lots of repetitive sequences - including a few long palindromes - that have made it largely 'unreadable' until now. (extension13.com)
There were also striking structural differences: the precise sequences of genes were conserved (so they still encoded the right proteins) but sometimes larger sections of DNA were flipped, oriented in the opposite direction along the Y chromosome. (extension13.com)
The supernumerary nature of three chromosomes, 14, 15, and 17, was confirmed by their absence in pulsed field gel electrophoresis experiments of some isolates and by demonstrating that these isolates lacked chromosome-specific sequences found on the ends of these chromosomes. (psu.edu)
These supernumerary chromosomes contain more repeat sequences, are enriched in unique and duplicated genes, and have a lower G+C content in comparison to the other chromosomes. (psu.edu)
Sex chromosomes and some sex-specific genes have been reported in plants, but the genome sequences have not been compared. (plantsuccess.org)

Silver Age of GOLD Introduces New Features The Genomes OnLine Database makes curated microbiome metadata that follows community standards freely available and enables large-scale comparative genomics analysis initiatives. (doe.gov)
Scholars@Duke publication: A chromosome-level reference genome and pangenome for barn swallow population genomics. (duke.edu)
A chromosome-level reference genome and pangenome for barn swallow population genomics. (duke.edu)
Overall, these resources will foster population genomics studies in the barn swallow, enable detection of candidate genes in comparative genomics studies, and help reduce bias toward a single reference genome. (duke.edu)
In this work, we combined data generated with several short-read sequencing protocols and genomics technologies, including paired-end and mate-pair reads with multiple insert sizes, 10X linked reads, Hi-C contacts, and optical maps to assemble a chromosome level reference genome of Digitaria exilis (fonio millet) with open-source tools. (edu.sa)
The paper provides a glimpse of the huge amount of thoughtful work being done by the 100,000 Genomes Project to incorporate genomics into medical practice across the U.K. It has been a many years-long process, and establishing the infrastructure to enroll patients, sequence their genomes, handle the massive amounts of resulting data, and develop efficient, accurate analysis pipelines has been a daunting task. (jax.org)

Not surprisingly, the paper concludes that the findings from the pilot study support the case for using whole genome sequencing for diagnosing rare disease patients. (jax.org)
Three B. ancashensis strains were analyzed by using whole-genome restriction mapping and high-throughput pyrosequencing. (cdc.gov)
Whole-genome analysis indicates that B. ancashensis might represent a distinct Bartonella lineage phylogenetically related to B. bacilliformis . (cdc.gov)

Genomic in situ hybridization (GISH) and Southern hybridization of genome-specific RAPD markers were used to demonstrate that the E genome (including Ee and Eb from Thinopyrum elongatum and Thinopyrum bessarabicum, respectively) and the St genome (from Pseudoroegneria species) were the two basic genomes in Thinopyrum ponticum. (unboundmedicine.com)
The full Y chromosome sequence "fills in gaps across more than 50% of the Y chromosome's length, [and] uncovers important genomic features with implications for fertility, such as factors in sperm production," SciTechDaily noted. (darkdaily.com)
When you find variation that you haven't seen before, the hope is always that those genomic variants will be important for understanding human health," said Adam Phillippy, PhD, a senior investigator and head of the Genome Informatics Section at the National Human Genome Research Institute, in a press release. (darkdaily.com)
Although some reference genomes are available for this clade, few are at the chromosome level, inhibiting high-resolution genomic studies. (biorxiv.org)
A detailed genetic scan of families with autism has found a region on chromosome 5 that is strongly associated with autism, and two new genomic areas that may harbor rare variants relevant to the disorder, according to a study published today in Nature 1 . (spectrumnews.org)
Many modern crop breeding approaches such as genomic selection and genome editing require detailed information of the genomic composition of a crop species. (edu.sa)
The study also developed an automated diagnostic pipeline to streamline the genomic data- including the millions of variants present in each genome-for clinical interpretation. (jax.org)
However, due to the complexity and size of its allohexaploid genome, genomic resources are limited compared to other major crops. (johnshopkins.edu)
Although this reference assembly represents all three wheat subgenomes at chromosome- scale, it was derived from short reads, and thus is missing a substantial portion of the expected 16 Gbp of genomic sequence. (johnshopkins.edu)

The malaria genome sequencing project: complete sequence of Plasmodium falciparum chromosome 2. (jcvi.org)
An international consortium has been formed to sequence the entire genome of the human malaria parasite Plasmodium falciparum. (jcvi.org)
Completion of the chromosome 2 sequence demonstrated that the A + T-rich genome of P. falciparum can be sequenced by the shotgun approach. (jcvi.org)
The human Y chromosome now has a full and complete sequence. (darkdaily.com)
After decades of attempts, genetic scientists led by the Telomere-to-Telomere Consortium -a team of researchers funded by the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH)-have finally "generated the first truly complete sequence of a human Y chromosome," which is "the final human chromosome to be fully sequenced," of the 24 human chromosomes, SciTechDaily reported. (darkdaily.com)
The researchers published their findings in the journal Nature titled, " The Complete Sequence of a Human Y Chromosome . (darkdaily.com)
Twenty years ago the first human genome sequence was completed. (darkdaily.com)
Nevertheless, more than half of the Y chromosome sequence was still unknown until the new findings from the T2T study, SciTechDaily reported. (darkdaily.com)
Researchers at Hiroshima University, core facility of the NBRP Chrysanthemum resource, have decoded the genome sequence of Chrysanthemum seticuspe and hope that the sequence will be a useful reference for front-line breeding of chrysanthemums. (nbrp.jp)
A chromosome-level genome sequence of Chrysanthemum seticuspe , a model species for hexaploid cultivated chrysanthemum", Communications Biology, 10.1038/s42003-021-02704-y . (nbrp.jp)
Building on the initial reference genome, I led similar analyses of the now complete human Y chromosome sequence. (azolifesciences.com)
Why was a complete sequence of the Y chromosome difficult to assemble? (azolifesciences.com)
While it would be terrific if we could sequence an entire chromosome all at once and without any errors, our current genome sequencing technology does not allow that. (azolifesciences.com)
The technology that allowed us to complete the Y chromosome-called long-read sequencing-allows us to sequence fragments of DNA that are much longer: up to hundreds of thousands of letters long. (azolifesciences.com)
Although the complete X chromosome sequence was shared with the world in 2020, the Y chromosome remained a mystery with large gaps. (thebrighterside.news)
Last year, scientists unveiled the most complete gapless sequence of the human genome ever produced - but it was missing one small piece: the Y chromosome. (extension13.com)
Now that we have this 100 percent complete sequence of the Y chromosome, we can identify and explore numerous genetic variations that could be impacting human traits and disease in a way that we weren't able to do before," says Dylan Taylor, a geneticist at Johns Hopkins University and one of the study authors. (extension13.com)
The team filled in more than 30 million 'letters' in the DNA sequence to assemble the Y chromosome in its entirety: all 62,460,029 base pairs. (extension13.com)
In a second study led by University of Washington geneticist Pille Hallast, researchers went one step further, using the reference sequence to assemble human Y chromosomes from 43 male individuals, half of whom represented African lineages. (extension13.com)
And while the 100,000-genome goal seemed audacious at the time, the preliminary clinical results have been promising enough to expand the project, which is now working to sequence and analyze millions of patient genomes. (jax.org)
We now report the genome sequence of male and female jojoba ( Simmondsia chinensis ) plants, revealing a very large difference in the sex chromosomes. (plantsuccess.org)
Twenty years ago, when researchers from the Human Genome Project announced that they had completed the first-ever sequence of an entire set of human DNA, the discovery was heralded as comparable to «splitting the atom or going to the moon. (advmed.tech)
Here, we describe a reference-guided effort to scaffold those contigs into chromosome-length pseudomolecules, add in any missing sequence that was unique to the IWGSC CS v1.0 assembly, and annotate the resulting pseudomolecules with genes. (johnshopkins.edu)
Our updated assembly, Triticum_aestivum_4.0, contains 15.07 Gbp of nongap sequence anchored to chromosomes, which is 1.2 Gbps more than the previous reference assembly. (johnshopkins.edu)

The other approach, called genome-wide association, has been used in the past several years to detect common variants in the form of single-nucleotide polymorphisms (SNPs) in people with and without the disorder. (spectrumnews.org)

PREMISE OF THE STUDY: Caricaceae include six genera and 34 species, among them papaya, a model species in plant sex chromosome research. (uni-muenchen.de)
We examined the karyotypes and genome size of species from all genera to test for possible cytogenetic variation. (uni-muenchen.de)
New and published data were combined with a phylogeny, molecular clock dating, and C values (available for similar to 50% of the species) to reconstruct genome evolution. (uni-muenchen.de)
A Mexican clade of five species that includes papaya, however, has 2n = 18 (papaya), 2n = 16 (Horovitzia cnidoscoloides), and 2 n = 14 (Jarilla caudata and J. heterophylla;third Jarilla not counted), with the phylogeny indicating that the dysploidy events occurred similar to 16.6 and similar to 5.5 million years ago and that Jarilla underwent genome size doubling (similar to 450 to 830-920 Mbp/haploid genome). (uni-muenchen.de)
However, when complex hybridization scenarios might explain a species' history, or when events are recent enough that coalescent methods cannot be used, haplotype-level information such as is provided by contiguous, chromosome-level assemblies can greatly improve our understanding of these events. (biorxiv.org)
Findings: We report the chromosome-scale genome assembly of Callicarpa americana L. (American beautyberry), a species within the early diverging Callicarpoideae clade of the Lamiaceae, known for its metallic purple fruits and use as an insect repellent due to its production of terpenoids. (datadryad.org)
Here we present an annotated, chromosome-anchored, genome assembly for Lake Trout (Salvelinus namaycush) - a highly diverse salmonid species of notable conservation concern and an excellent model for research on adaptation and speciation. (authorea.com)
Self-vs-self synteny analysis allowed us to identify homeologs resulting from the Salmonid specific autotetraploid event (Ss4R) and alignment with three other salmonid species allowed us to identify homologous chromosomes in other species. (authorea.com)
In parallel, multiple technologies and manual finishing were used to produce an 85-Mb reference genome assembly from the more readily available mouse parasite species T. muris (Online Methods and Supplementary Note ). (nature.com)
Eukaryote hybrid genomes result from interspecific hybridization, where closely related species mate and produce offspring with admixed genomes. (wikipedia.org)
There are two main variants of hybrid species genomes: allopolyploid, which have one full chromosome set from each parent species, and homoploid, which are a mosaic of the parent species genomes with no increase in chromosome number. (wikipedia.org)
Allopolyploid species often have strong intrinsic reproductive barriers due to differences in chromosome number, and homoploid hybrids can become reproductively isolated from the parent species through assortment of genetic incompatibilities. (wikipedia.org)
Thus hybrid genomes are highly dynamic and may undergo rapid evolutionary change, including genome stabilization in which selection against incompatible combinations results in fixation of compatible ancestry block combinations within the hybrid species. (wikipedia.org)
The article summarizes how introgressed alleles or hybrid species can establish and how the resulting hybrid genomes evolve. (wikipedia.org)
It is a member of a genus with fewer than 20 species, which have different genome sizes, basic chromosome numbers and ploidy levels. (aber.ac.uk)
Several genes controlling the ability of individual isolates of this species to colonize specific habitats are located on supernumerary chromosomes. (psu.edu)
Genome-wide comparative analysis of Bartonella species showed that B. ancashensis has features seen in modern and ancient lineages of Bartonella species and is more related to B. bacilliformis . (cdc.gov)

Chromosome level reference genome for European flat oyster (Ostrea edulis L. (ed.ac.uk)
Dive into the research topics of 'Chromosome level reference genome for European flat oyster (Ostrea edulis L.)'. Together they form a unique fingerprint. (ed.ac.uk)

A study conducted by Stylianos Antonarakis and his team in the Department of Genetic Medicine and Development at the University of Geneva (UNIGE) Faculty of Medicine, published in Nature , shed light on how the extra chromosome 21 upsets the equilibrium of the entire genome, causing a wide variety of pathologies. (unige.ch)
At UNIGE, Stylianos Antonarakis's team has the unique opportunity to examine the genomes of two identical twins with the exact same genetic makeup, except for an extra chromosome 21 present in one of them. (unige.ch)
Trisomy 21 → gain of an extra chromosome 21, results in Down's syndrome. (mindmeister.com)

For the new study, researchers combined two approaches to examine the genomes of 1,031 'multiplex' families - in which more than one member has been diagnosed with autism. (spectrumnews.org)

The researchers noticed that the expression of genes located on all the other chromosomes (outside of chromosome 21) were disturbed in trisomic cells. (unige.ch)
By comparing their results with data previously published by other research groups, UNIGE researchers noticed that this specific chromosomes organization correlates with DNA position in the cell nucleus. (unige.ch)
This achievement by an international team of genetic researchers is expected to open the door to significant insights in how variants and mutations in the Y chromosome are involved in various diseases and health conditions. (darkdaily.com)
Genome Insider: Methane Makers in Yosemite's Lakes Meet researchers who sampled the microbial communities living in the mountaintop lakes of the Sierra Nevada mountains to see how climate change affects freshwater ecosystems, and how those ecosystems work. (doe.gov)
But with two projects, communities are forming to generate high quality genomes to benefit researchers. (doe.gov)
Groundbreaking research led by a global group of over 100 researchers will enable a more in-depth exploration of human genetic variation as fully sequencing the Y chromosome, a feat that has challenged scientists for years, has been accomplished for the first time. (azolifesciences.com)
Alongside a team of more than 100 researchers, you have fully sequenced the Y chromosome, T2T-Y, for the first time. (azolifesciences.com)
Ultimately, as the complete, accurate and gapless assembly of diploid human genomes becomes routine, we expect that 'reference genomes' will become known simply as 'genomes'," the researchers conclude . (extension13.com)
Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (medlineplus.gov)
Researchers have identified several possible tumor suppressor genes in the deleted region of chromosome 1, and more research is needed to understand what role these genes play in neuroblastoma development. (medlineplus.gov)

The human Y chromosome is the final human chromosome to be fully sequenced. (thebrighterside.news)
Now, the smallest member of the human chromosome family has been fully sequenced, completing a puzzle that's taken three decades to solve. (extension13.com)

I initially joined the T2T consortium in 2021 as part of the team exploring the improvements to genetic analyses afforded by using a complete human reference genome. (azolifesciences.com)
Fusion leads to the formation of dicentric chromosomes, a translocation, and other chromosomal rearrangements.Using extensive genetics and some molecular analyses, I demonstrate that dicentric chromosomes are key intermediates in genome instability of a specific chromosome in budding yeast. (arizona.edu)
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. (bvsalud.org)

In a heptaploid individual of the partial amphiploid 40767-2, there were four pairs of St chromosomes, one pair of St/1B Robertsonian translocation chromosomes, one pair of St/E translocation chromosomes, and one pair of Ee or Eb chromosomes. (unboundmedicine.com)
Genome sequencing and transcriptome analysis of Trichoderma reesei QM9978 strain reveals a distal chromosome translocation to be responsible for loss of vib1 expression and loss of cellulase induction. (france-genomique.org)

Cechova, encapsulating the essence of this achievement, stated, 'We now have a recipe on how to assemble the Y chromosome fully. (thebrighterside.news)

In this study, we performed a genome-wide linkage study in a consanguineous Tunisian family, and report the mapping of a novel ARNSHI locus DFNB80 to chromosome 2p16.1-p21 between the two single-nucleotide polymorphisms rs10191091 and rs2193485 with a maximum multipoint logarithm of odds score of 4.1. (nih.gov)
We identify potentially conserved and accelerated genes using the multialignment and estimate genome-wide linkage disequilibrium using the catalog. (duke.edu)
We conducted a 10-centimorgan linkage autosomal genome scan in a set of 19 extended American pedigrees (219 subjects) ascertained through probands with panic disorder. (qxmd.com)

Recently, genes on the Y chromosome have been implicated in aggressive forms of common cancers in men, while Y chromosome loss has been found to drive the growth of bladder cancers . (extension13.com)

The reconstructed ancestral genome could help in understanding the evolution of mammals and in conservation of modern animals. (bionity.com)
Tracing the Evolution of Shiitake Mushrooms Understanding Lentinula genomes and their evolution could provide strategies for converting plant waste into sugars for biofuel production. (doe.gov)
Conclusions: Access to the C. americana genome provides a roadmap for rapid discovery of genes encoding plant-derived agrichemicals and a key resource to understand the evolution of chemical diversity in Lamiaceae. (datadryad.org)
Insights into the evolution of non-model organisms are limited by the lack of reference genomes of high accuracy, completeness, and contiguity. (duke.edu)
Together, the assemblies spanned 183,000 years of human evolution and revealed some surprising variations in the Y chromosome. (extension13.com)
Reconstructing the evolution of Brachypodium genomes using comparative chromosome painting. (aber.ac.uk)
The aims of this study are not only to reconstruct the evolution of Brachypodium karyotypes to resolve the phylogeny, but also to highlight the mechanisms that shape the evolution of grass genomes. (aber.ac.uk)

We sequenced chromosome 2 of clone 3D7 using a shotgun sequencing strategy. (jcvi.org)
The ability to probe the spatial organization of chromosomes through the combination of chromosome conformation capture methods with high-throughput sequencing (3C-Hi-C) has revealed how chromosomes organize into active and inactive compartments (indicated 'A' and 'B' , respectively) [ 1 ]. (biomedcentral.com)
Some of these genomes are being produced as part of the Earth BioGenome Project and other large-scale biodiversity genome sequencing efforts. (bionity.com)
The result was thanks to years of work through the preferred " chain termination " (aka, Sanger Sequencing) method developed by Fred Sanger and a $2.7 billion contribution from the Human Genome Project , according to a study published in the African Journal of Laboratory Medicine ( AJLM ). (darkdaily.com)
Massively parallel or next-generation sequencing (NGS) technologies eliminated the need for multiple personnel working on a genome by automating DNA cleavage , amplification , and parallel short-read sequencing on a single instrument, thereby lowering costs and increasing throughput," the AJLM paper noted. (darkdaily.com)
How did the team approach sequencing the chromosome? (azolifesciences.com)
That said, even with the advantages that long-read sequencing provides, there were whole teams of people focused on developing algorithms to put together the most challenging regions of the chromosome, and manually checking that everything was assembled correctly afterward. (azolifesciences.com)
Arang Rhie, the lead author of the research paper from the U.S. National Human Genome Research Institute, attributes this groundbreaking success to 'new sequencing technologies and computational methods. (thebrighterside.news)
Led by genomicist Arang Rhie from the US National Human Genome Research Institute, the aptly named Telomere-to-Telomere consortium used advanced sequencing techniques and newly developed bioinformatic algorithms to stitch long stretches of DNA together, finally mapping the Y chromosome in full. (extension13.com)
A new era of personalized medicine beckons if sequencing technologies keep advancing, allowing whole genomes - not just select sections - to be sequenced cheaply. (extension13.com)
But genome sequencing could exacerbate healthcare disparities if historical injustices and the lack of diversity in research studies aren't resolved. (extension13.com)
The conclusion from the abstract states simply: "Our pilot study of genome sequencing in a national health care system showed an increase in diagnostic yield across a range of rare diseases. (jax.org)
We used computational modeling and single-cell imaging to determine chromosome positions, and integrated these data with genome-wide transcriptional profiles from RNA sequencing. (hal.science)

Tortoiseshell male cats do, however, occur at a low frequency among tortoiseshell cats because of chromosome aberrations similar to the Klinefelter syndrome in man: the extra X chromosome of a 39,XXY karyotype introduces the possibility of an orange and a non-orange allele which produce the mixture of orange and non-orange coat spotting known as tortoiseshell. (karger.com)
Chromosome analysis using RBA-banding consistently revealed a 39,XXY karyotype. (karger.com)
The family was held to have a conserved karyotype with 2n = 18 chromosomes, an assumption based on few counts. (uni-muenchen.de)
Here, we present a chromosome-level, karyotype-validated reference genome and pangenome for the barn swallow (Hirundo rustica). (duke.edu)
A karyotype is a picture of the full set of chromosomes in a person's cells. (msdmanuals.com)

Second, I show a strong correlation between the amount of the dicentric fragment and the frequency of instability of the entire chromosome. (arizona.edu)

Genome Insider: A Shrubbier Version of Rubber Hear from the consortium working on understanding the guayule plant's genome, which could lead to an improved natural rubber plant. (doe.gov)
My work with the T2T consortium focuses on exploring how a complete reference genome can improve our ability to study human genetic variation and how it impacts human traits and health. (azolifesciences.com)
This research, backed by the Telomere-to-Telomere consortium, illuminates medically pertinent areas of the Y chromosome. (thebrighterside.news)
The Wellcome Trust Case Control Consortium (WTCCC) primary genome -wide association (GWA) scan on seven diseases , including the multifactorial autoimmune disease type 1 diabetes (T1D), shows associations at P chromosome regions 12q24, 12q13, 16p13, 18p11, 12p13 and 4q27. (bvsalud.org)

Earlier this year, changes in another spot on chromosome 5 were reported to be associated with autism 3 , but those variants did not stand out in this study. (spectrumnews.org)

The scientists found nine whole chromosomes, or chromosome fragments in the mammal ancestor whose order of genes is the same in modern birds' chromosomes. (bionity.com)
As each chromosome contains a single centromere, it remains unclear how acentric fragments derived from shattered chromosomes are inherited between daughter cells during mitosis 6 . (nature.com)
Here we tracked micronucleated chromosomes with live-cell imaging and show that acentric fragments cluster in close spatial proximity throughout mitosis for asymmetric inheritance by a single daughter cell. (nature.com)
Mitotic clustering facilitates the reassembly of acentric fragments into rearranged chromosomes lacking the extensive DNA copy-number losses that are characteristic of canonical chromothripsis. (nature.com)
The stochastic inheritance of chromosome fragments by both newly formed daughter cells could in part contribute to the alternating DNA copy-number states that are characteristic of chromothripsis 2 . (nature.com)
However, most fragments derived from pulverized chromosomes are acentric and cannot directly bind to spindle microtubules 14 . (nature.com)
Nous avons génotypé les deux polymorphismes mononucléotidiques du gène ADIPOQ chez 140 patients atteints de DNID sans lien de parenté et 66 témoins non diabétiques en recourant à l'analyse du polymorphisme de longueur des fragments de restriction par réaction en chaîne de polymérase. (who.int)

It results from a chromosomal abnormality where cells of affected individuals contain a third copy of chromosome 21 (1% of the human genome). (unige.ch)
CONCLUSIONS: On the basis of outgroup comparison, 2n = 18 is the ancestral number, and repeated chromosomal fusions with simultaneous genome size increase as a result of repetitive elements accumulating near centromeres characterize the papaya clade. (uni-muenchen.de)
In this issue of Genome Biology, Fortin and Hansen report how they have used such a principle to predict chromosomal compartments from epigenetic domains as defined by DNA methylation data [ 9 ]. (biomedcentral.com)
The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 1. (medlineplus.gov)
1q21.1 microdeletion is a chromosomal change in which a small piece of the long (q) arm of chromosome 1 is deleted in each cell. (medlineplus.gov)

Of the seven partial amphiploids isolated from backcrossed progenies of Triticum aestivum x Thinopyrum ponticum hybrids, two (lines 693 and 7631) have eight pairs of chromosomes from the Ee and (or) Eb genomes. (unboundmedicine.com)
Four partial amphiploids (lines 784, 68, 7430, and 40767-1) have an incomplete St genome, i.e., six pairs of chromosomes of St and one pair of chromosomes from Ee or Eb. (unboundmedicine.com)
For one, the Y chromosomes were vastly different sizes, ranging from 45.2 million to 84.9 million base pairs in length. (extension13.com)
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (medlineplus.gov)
Two copies of chromosome 1, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
Chromosome 1 is the largest human chromosome, spanning about 249 million DNA building blocks (base pairs) and representing approximately 8 percent of the total DNA in cells. (medlineplus.gov)
Every normal human cell contains 23 pairs of chromosomes, for a total of 46 chromosomes. (msdmanuals.com)
Except for certain cells (for example, sperm and egg cells and red blood cells), the cell nucleus contains 23 pairs of chromosomes. (msdmanuals.com)

We generated a chromosome-level scaffold assembly including the Z chromosome and a portion of the W chromosome. (fmach.it)

The reconstruction shows that the mammal ancestor had 19 autosomal chromosomes, which control the inheritance of an organism's characteristics outside of those controlled by sex-linked chromosomes, (these are paired in most cells, making 38 in total) plus two sex chromosomes, said Joana Damas, first author on the study and a postdoctoral scientist at the UC Davis Genome Center. (bionity.com)

We previously localized a Quantitative Trait Locus for HPFH in an extensive Asian-Indian kindred to chromosome 6q23. (biomedcentral.com)
Genome scan for loci predisposing to anxiety disorders using a novel multivariate approach: strong evidence for a chromosome 4 risk locus. (qxmd.com)

Such three-dimensional organization of chromosomes into spatially distinct domains sheds light on how complex genomes might set specific transcriptional programs to regulate genes individually or as groups of genes. (biomedcentral.com)
Here we show that pulverized chromosomes from micronuclei spatially cluster throughout mitosis and identify the CIP2A-TOPBP1 complex as an essential regulator of this process. (nature.com)

This pioneer work highlighted how the fractal organization of chromosomes could favor their folding into individual domains and revealed topologically associating domains (TADs) and sub-TADs (reviewed by Tanay and Cavalli [ 2 ]), which represent a pervasive structural feature of the organization of the genome. (biomedcentral.com)
The three-dimensional organization of chromosomes into TADs corresponds with epigenetically defined domains that are marked by specific histone modifications [ 2 ]. (biomedcentral.com)
Understanding how multiple hierarchical levels of genome organization impact on epigenetic (re-)programming might thus largely rely on integrating Hi-C data together with epigenomic data through the development of bona fide computational approaches [ 2 , 8 ]. (biomedcentral.com)
An international team has reconstructed the genome organization of the earliest common ancestor of all mammals . (bionity.com)
We don't know a great deal about this animal, but the organization of its genome has now been computationally reconstructed by an international team of scientists. (bionity.com)
The three-dimensional (3D) organization of chromosomes can influence transcription. (hal.science)
We find that chromosome fusions dramatically alter 3D nuclear organization without leading to strong genome-wide changes in transcription. (hal.science)

This study represents the first genome-wide association study (GWAS) to identify risk loci for EA/TEF. (lu.se)
We used a European case-control sample comprising 764 EA/TEF patients and 5,778 controls and observed genome-wide significant associations at three loci. (lu.se)

Trisomy of sex chromosomes is compatible with life, but will cause phenotypic abnormalities. (mindmeister.com)
May have trisomy of other chromosomes, eg. (mindmeister.com)

Generally speaking, chromosomes are divided into domains that contain genes with rather similar levels of RNA production. (unige.ch)
These building blocks of all mammal genomes contain genes that are critical to developing a normal embryo. (bionity.com)

Using genetics, I also show that many DNA repair and checkpoint pathways suppress fusion of nearby inverted repeats and genome instability. (arizona.edu)

We produced a 75.2-Mb high-quality draft genome assembly from a clinically isolated adult male T. trichiura using Illumina technology. (nature.com)
Since the unveiling of the first draft of the human genome in 2003, the realm of genetics has witnessed astonishing strides. (thebrighterside.news)
We knew we had an incomplete picture up until now," says John Hopkins University computational biologist Rajiv McCoy in what could be considered a slight understatement, given the previous draft of the Y chromosome was missing more than half of its bases. (extension13.com)

The potential for rapid adaptation or speciation makes hybrid genomes a particularly exciting subject in evolutionary biology. (wikipedia.org)
The wide divergence of the sex chromosomes suggests a long period of adaptation to diverging sex-specific roles. (plantsuccess.org)

Thus, distinct patterns of chromothripsis can be explained by the spatial clustering of pulverized chromosomes from micronuclei. (nature.com)
These studies implicate a potential mechanism suppressing the loss of genetic material after chromosome pulverization, although how distinct patterns of rearrangements arise in cancer and germline disorders remains unclear. (nature.com)
For millions of years, brewer's yeast and its close relatives have packed their DNA into 16 distinct chromosomes. (acm.org)

A scan of 500,000 SNPs also revealed a single nucleotide on chromosome 5 that is associated with the disorder. (spectrumnews.org)
Genome-wide association studies contrasting insecticide-resistant and susceptible strains identify hundreds of single nucleotide polymorphisms (SNPs) potentially associated with insecticide resistance, including three SNPs found in the promoter of CYP6B2. (fmach.it)

Genes are contained in chromosomes, which are in the cell nucleus. (msdmanuals.com)
DNA (deoxyribonucleic acid) is the cell's genetic material, contained in chromosomes within the cell nucleus and mitochondria. (msdmanuals.com)

A chromosome contains hundreds to thousands of genes. (msdmanuals.com)

Major tumor DNA alterations occurred in chromosome 8, 13, 18 and 20, where short survival included gain in 8q and loss in 8p. (lu.se)
Copy number gains related to tumor progression were most common on chromosome 7, 8, 19, 20, while corresponding major losses appeared in chromosome 8. (lu.se)

With this revelation, the scientific community can now gain insights into the role of the Y chromosome in various human ailments. (thebrighterside.news)
Studies of Exo1 and Pds1 provide us with insights into the molecular mechanisms of fusion.Our finding that nearby inverted repeats can fuse to form dicentric chromosomes that lead to genome instability may have great implications. (arizona.edu)

We complement these resources with a reference-free multialignment of the reference genome with other bird genomes and with the most comprehensive catalog of genetic markers for the barn swallow. (duke.edu)
This initial version of the reference genome-published in 2022-while a complete human genome, was from a sample that lacked a Y chromosome. (azolifesciences.com)
For reference, the Y chromosome is over 60 million letters long. (azolifesciences.com)
We then compared the TRITEX assembly to the fonio reference genome, which had previously been assembled from the same input data but using proprietary algorithms. (edu.sa)
The result is an all-encompassing human reference genome, one that could now contain secrets about male fertility. (extension13.com)
The IWGSC recently published a reference genome and associated annotation (IWGSC CS v1.0, Chinese Spring) that has been widely adopted and utilized by the wheat community. (johnshopkins.edu)

We focused on SNPs within or near TACR1/LOC105374811 (chromosome 2) and CTNNA3/DNAJC12 (chromosome 10). (cdc.gov)

The maintenance of a single centromere per chromosome is critical for establishing bipolar microtubule attachments to the mitotic spindle and achieving high-fidelity genome segregation 17 . (nature.com)

The biggest surprise was how organized the repeats are," says Adam Phillippy, a computer scientist at the US National Human Genome Research Institute. (extension13.com)
Based on these observations, I conclude that dicentric chromosomes are intermediates in causing genome instability in this system.Next, we demonstrate that fusion of inverted repeats is general. (arizona.edu)
The generality of this fusion reaction raises the possibility that dicentric chromosomes formed by inverted repeats can lead to genome instability in mammalian cells, and thereby contribute to a cancer phenotype. (arizona.edu)

Here is a drawing of human chromosome 17 showing its characteristic major banding pattern as it appears after staining. (pearson.com)

Chromosome folding can reinforce the demarcation between euchromatin and heterochromatin. (biomedcentral.com)
Lighter bands on chromosomes called euchromatin where genes are expressed. (mindmeister.com)

These results indicate that genome recombination usually occurred during the formation of new polyploid lines. (unboundmedicine.com)
First, I detect a recombination fusion junction that is diagnostic of a dicentric chromosome (using a PCR technique). (arizona.edu)

At the heart of every cell lies the genome, a series of threadlike structures, known as chromosomes, that dictate the genetic information passed from one generation to the next. (thebrighterside.news)
Chromosomes are structures within cells that contain a person's genes. (msdmanuals.com)

84.7% of the genome was assigned to 42 chromosome-sized scaffolds and 93.2% of Benchmarking Universal Single Copy Orthologs were recovered, putting this assembly on par with the best currently available salmonid genomes. (authorea.com)
Until recently, the highly continuous assembly of such cereal crop genomes from short-read data was mainly possible with proprietary assembly tools. (edu.sa)
We implemented the TRITEX pipeline - a recently developed open-source pipeline for the assembly of large Triticeae genomes. (edu.sa)
While the TRITEX assembly was able to produce a highly continuous genome assembly, further work is needed to characterize the putative discrepancies in more detail. (edu.sa)
The male genome assembly was 832 Mb and the female 822 Mb. (plantsuccess.org)
The high-quality genome assembly of C. pomonella informs the genetic basis of its invasiveness, suggesting the codling moth has distinctive capabilities and adaptive potential that may explain its worldwide expansion. (fmach.it)

This remarkable finding shows the evolutionary stability of the order and orientation of genes on chromosomes over an extended evolutionary timeframe of more than 320 million years," Lewin says. (bionity.com)
We hope these genomes will aid in further evolutionary and conservation research of this iconic group of mammals. (biorxiv.org)
This article reviews the evolutionary outcomes of interspecific hybridization and the properties of genomes of hybrid genomes. (wikipedia.org)

In a major breakthrough, scientists have successfully deciphered the intricate and elusive Y chromosome. (thebrighterside.news)
As scientists continue to delve deeper into our genetic code, it's evident that this recent unveiling of the Y chromosome will catalyze further innovations in understanding the enigma that is the human genome. (thebrighterside.news)
Scientists Solve the Genetic Puzzle of Sex-related Y Chromosome Scientists have taken an important step forward in understanding the human genome by fully deciphering the enigmatic Y chromosome, which could help guide research on infertility in men. (medscape.com)

As no sign of spermatogenesis was detected, we conclude that this is a classic case of a sterile, male tortoiseshell cat with a 39,XXY chromosome complement. (karger.com)

Monika Cechova, a UCSC genomicist and study co-author, elucidates, 'The Y chromosome is the smallest and the fastest-evolving chromosome in the human genome, and also the most repetitive, meaning that its DNA contains stretches of DNA repeated many times over. (thebrighterside.news)

Anatomy59

Organisms7

Diseases20

Chemicals and Drugs29

Analytical, Diagnostic and Therapeutic Techniques and Equipment28

Phenomena and Processes179

Disciplines and Occupations4

Technology, Industry, Agriculture2

Information Science10

Health Care1

Gene19

Piece of the human genome1

Sequences13

Genomics6

Whole genome3

Genomic9

Sequence24

Called genome-wide1

Species17

Level reference genome2

Extra chromosome 213

Examine the genomes1

Researchers10

Fully sequenced2

Analyses3

Translocation2

Assemble the Y chromosome1

Linkage3

Genes on the Y chromosome1

Evolution7

Sequencing13

Karyotype5

Entire chromosome1

Consortium4

Variants1

Fragments7

Chromosomal5

Pairs8

Scaffold1

Autosomal1

Locus2

Spatially2

Organization7

Loci2

Trisomy2

Contain genes2

Pathways1

Draft3

Adaptation2

Distinct3

Nucleotide2

Nucleus2

Thousands of genes1

Tumor2

Insights2

Reference6

CTNNA31

Centromere1

Repeats3

Characteristic1

Euchromatin2

Recombination2

Structures2

Assembly6

Evolutionary3

Scientists3

Conclude1

Repetitive1