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At least 145 records · Page 8Linked to original sources

Molecular characterization of a t(9;12)(p21;q13) balanced chromosome translocation in combination with integrative genomics analysis identifies C9orf14 as a candidate tumor-suppressor.

A large number of nevi (LNN) is a high risk phenotypic trait for developing cutaneous malignant melanoma (CMM). In this study, the breakpoints of a t(9;12)(p21;q13) balanced chromosome translocation were finely mapped in a family with LNN and CMM. Molecular characterization of the 9p21 breakpoint identified a novel gene C9orf14 expressed in melanocytes disrupted by the translocation. Integrative analysis of functional genomics data was applied to determine the role of C9orf14 in CMM development. An analysis of genome-wide DNA copy number alterations in melanoma tumors revealed the loss of the C9orf14 locus, located proximal to CDKN2A, in approximately one-fourth of tumors. Analysis of gene expression data in cancer cell lines and melanoma tumors suggests a loss of C9orf14 expression in melanoma tumorigenesis. Taken together, our results indicate that C9orf14 is a candidate tumor-suppressor for nevus development and late stage melanoma at 9p21, a region frequently deleted in different types of human cancers.

Chromosomes, Human, Pair 12↗

Integrating genomic and spatial analyses to describe tuberculosis transmission: a scoping review.

Tuberculosis remains a leading cause of infection-related mortality, and efforts to reduce its incidence have been hindered by an incomplete understanding of local Mycobacterium tuberculosis transmission dynamics. Advances in pathogen sequencing and spatial analysis have created new opportunities to map M tuberculosis transmission patterns more precisely. In this scoping review, we searched for studies combining pathogen genetics and location data to analyse the spatial patterns of M tuberculosis transmission and identified 142 studies published between 1994 and 2024. Secular changes in genetic methods were observed, with genome sequencing approaches largely replacing lower-resolution genotyping methods since 2020. The included studies addressed four primary research questions: how are tuberculosis cases and M tuberculosis transmission clusters geographically distributed; do spatially concentrated M tuberculosis clusters exist, and where are these areas located; when spatial concentration occurs, what host, pathogen, or environmental factors contribute to these patterns; and do identifiable relationships exist between the spatial proximity of tuberculosis cases and the genetic similarity of the M tuberculosis isolates infecting these individuals? Collectively, in this Review, we examined the available study data, evaluated the analytical requirements for addressing these questions, and discussed opportunities and challenges for future research. We found that the integration of spatial and genomic data can inform a detailed understanding of local M tuberculosis transmission patterns, but improved study designs and new analytical methods to address gaps in sampling completeness and to integrate additional movement data are needed to fully realise the potential of these tools.

Humans↗

Integrating genomic data to predict transcription factor binding.

Transcription factor binding sites (TFBS) in gene promoter regions are often predicted by using position specific scoring matrices (PSSMs), which summarize sequence patterns of experimentally determined TF binding sites. Although PSSMs are more reliable than simple consensus string matching in predicting a true binding site, they generally result in high numbers of false positive hits. This study attempts to reduce the number of false positive matches and generate new predictions by integrating various types of genomic data by two methods: a Bayesian allocation procedure, and support vector machine classification. Several methods will be explored to strengthen the prediction of a true TFBS in the Saccharomyces cerevisiae genome: binding site degeneracy, binding site conservation, phylogenetic profiling, TF binding site clustering, gene expression profiles, GO functional annotation, and k-mer counts in promoter regions. Binding site degeneracy (or redundancy) refers to the number of times a particular transcription factor's binding motif is discovered in the upstream region of a gene. Phylogenetic conservation takes into account the number of orthologous upstream regions in other genomes that contain a particular binding site. Phylogenetic profiling refers to the presence or absence of a gene across a large set of genomes. Binding site clusters are statistically significant clusters of TF binding sites detected by the algorithm ClusterBuster. Gene expression takes into account the idea that when the gene expression profiles of a transcription factor and a potential target gene are correlated, then it is more likely that the gene is a genuine target. Also, genes with highly correlated expression profiles are often regulated by the same TF(s). The GO annotation data takes advantage of the idea that common transcription targets often have related function. Finally, the distribution of the counts of all k-mers of length 4, 5, and 6 in gene's promoter region were examined as means to predict TF binding. In each case the data are compared to known true positives taken from ChIP-chip data, Transfac, and the Saccharomyces Genome Database. First, degeneracy, conservation, expression, and binding site clusters were examined independently and in combination via Bayesian allocation. Then, binding sites were predicted with a support vector machine (SVM) using all methods alone and in combination. The SVM works best when all genomic data are combined, but can also identify which methods contribute the most to accurate classification. On average, a support vector machine can classify binding sites with high sensitivity and an accuracy of almost 80%.

Algorithms↗

Integrated genomics and morphological approach reveals interspecific gene flow cases and decodes the origin of selected feathergrasses (Poaceae, Stipa).

Central Asia is a diversity hotspot of arid-adapted grasses from the genus Stipa, with approximately 100 taxa found in the region. Recent studies in the steppe areas of Kazakhstan revealed specimens displaying intermediate morphology, distinguishing them from other taxa that grow sympatrically. Using integrative taxonomy, we investigated whether these individuals resulted from natural speciation or hybridisation, and if so, we would like to know which species were involved in this process feathergrasses. Research conducted in steppes of central Kazakhstan (Kyzylorda region), revealed the existence of individuals morphologically intermediate between S. arabica and S. richteriana, suggesting that these are probably of hybrid origin. Morphology and SNP markers validated the specimens as F1 hybrid between the aforementioned species by cladding separately based on neighbor-joining phylogenetic tree. Moreover, genetic structure displayed a separate cluster and showed almost equal genetic admixture between S. arabica and S. richteriana. Additionally, fastStructure analysis detected two geographically separated cryptic genotypes within S. richteriana population and their involvement in the hybridisation resulted in occurrence of S. × heptapotamica, S. × czerepanovii and S. × korshinskyi which recently were suggested as hybrids. Based on these evidences, we described a new nothospecies S. × kyzylordensis, as F1 hybrid. Furthermore, morphologically, the nothospecies delimited with other hybrids in Kazakh steppe area, marking the first report of hybridisation between S. arabica and S. richteriana, along with molecular evidence for the origin of further species supposed to be hybrids. This finding is crucial to understanding species diversity and hybridisation process in morphologically and genetically distant Stipa species.

Poaceae↗

A System for Automated Bacterial (genome) Integrated Annotation--SABIA.

UNLABELLED: A web-based software suite, SABIA (System for Automated Bacterial Integrated Annotation), is described that provides a comprehensive computational support for the assembly and annotation of whole bacterial genomes from the data derived from sequencing projects. AVAILABILITY: Both SABIA and supplementary materials are available at http://www.sabia.lncc.br

Algorithms↗

Integrative genomic analyses identify MITF as a lineage survival oncogene amplified in malignant melanoma.

Systematic analyses of cancer genomes promise to unveil patterns of genetic alterations linked to the genesis and spread of human cancers. High-density single-nucleotide polymorphism (SNP) arrays enable detailed and genome-wide identification of both loss-of-heterozygosity events and copy-number alterations in cancer. Here, by integrating SNP array-based genetic maps with gene expression signatures derived from NCI60 cell lines, we identified the melanocyte master regulator MITF (microphthalmia-associated transcription factor) as the target of a novel melanoma amplification. We found that MITF amplification was more prevalent in metastatic disease and correlated with decreased overall patient survival. BRAF mutation and p16 inactivation accompanied MITF amplification in melanoma cell lines. Ectopic MITF expression in conjunction with the BRAF(V600E) mutant transformed primary human melanocytes, and thus MITF can function as a melanoma oncogene. Reduction of MITF activity sensitizes melanoma cells to chemotherapeutic agents. Targeting MITF in combination with BRAF or cyclin-dependent kinase inhibitors may offer a rational therapeutic avenue into melanoma, a highly chemotherapy-resistant neoplasm. Together, these data suggest that MITF represents a distinct class of 'lineage survival' or 'lineage addiction' oncogenes required for both tissue-specific cancer development and tumour progression.

Cell Line, Tumor↗

Structure of the int-5, a novel MMTV integration genomic locus containing mouse early transposon LTR homology region.

Previous studies have reported the cloning and identification of the int-5, a novel mouse mammary tumor virus (MMTV) integration locus involved in mammary tumorigenesis. Here we report the characterization of the 5.5 kb region from this novel MMTV integration site. Our results show that the region after the MMTV integration site, a 258 bp sequence is homologous (100%) to the mouse early transposon (mETn) long-terminal repeat and other sequences of the this transposon are not present in the 5.5 kb region. Our results also show for the first time the tumor specific expression of mETn and expression of the region downstream of the MMTV integration site that is homologous to mETn-LTR in D2 mammary tumors.

Animals↗

Systems toxicology: integrated genomic, proteomic and metabonomic analysis of methapyrilene induced hepatotoxicity in the rat.

Administration of high doses of the histamine antagonist methapyrilene to rats causes periportal liver necrosis. The mechanism of toxicity is ill-defined and here we have utilized an integrated systems approach to understanding the toxic mechanisms by combining proteomics, metabonomics by 1H NMR spectroscopy and genomics by microarray gene expression profiling. Male rats were dosed with methapyrilene for 3 days at 150 mg/kg/day, which was sufficient to induce liver necrosis, or a subtoxic dose of 50 mg/kg/day. Urine was collected over 24 h each day, while blood and liver tissues were obtained at 2 h after the final dose. The resulting data further define the changes that occur in signal transduction and metabolic pathways during methapyrilene hepatotoxicity, revealing modification of expression levels of genes and proteins associated with oxidative stress and a change in energy usage that is reflected in both gene/protein expression patterns and metabolites. The difficulties of combining and interpreting multiomic data are considered.

Animals↗

Analysis of the provirus genome integrated in T cell lines established from the cerebrospinal fluid of patients with human T lymphotropic virus type I-associated myelopathy (HAM).

T cell lines were established from the cerebrospinal fluid (CSF) lymphocytes of three patients with human T lymphotropic virus type I (HTLV-I)-associated myelopathy (HAM). To elucidate the possible changes of the provirus nucleotide sequences integrated in HAM-derived T cell line cells, DNA from these cells was digested with PstI, which cleaved the provirus genome of HTLV-I at several sites, and three common bands were detected by Southern blot analysis in all cases. These bands were identical in size to those detected in T cell lines established from peripheral blood lymphocytes of adult T cell leukemia (ATL) patients. These results were confirmed with restriction enzymes HindIII and BamHI. These findings suggest that the provirus genome detected in T cell lines derived from CSF of HAM patients is identical to HTLV-I.

Adult↗

From integrated genomics to tumor lineage dependency.

In principle, genomic information derived from tumors should illuminate critical cellular dependencies that are tractable to therapeutic targeting; however, realizing this ideal remains difficult. Using an integrated analysis of high-resolution single nucleotide polymorphism maps and gene expression databases associated with the NCI60 collection cancer cell lines, we identified the transcription factor MITF as an amplified oncogene in melanoma that is critical for anchoring lineage dependence and malignant character. Similar combined genomic approaches may be useful in other cancer types to learn how critical regulators of tumor lineage are linked to genomic alterations in cancer cells.

Cell Line, Tumor↗

Lats2/Kpm is required for embryonic development, proliferation control and genomic integrity.

The Drosophila melanogaster warts/lats tumour suppressor has two mammalian counterparts LATS1/Warts-1 and LATS2/Kpm. Here, we show that mammalian Lats orthologues exhibit distinct expression profiles according to germ cell layer origin. Lats2(-/-) embryos show overgrowth in restricted tissues of mesodermal lineage; however, lethality ultimately ensues on or before embryonic day 12.5 preceded by defective proliferation. Lats2(-/-) mouse embryonic fibroblasts (MEFs) acquire growth advantages and display a profound defect in contact inhibition of growth, yet exhibit defective cytokinesis. Lats2(-/-) embryos and MEFs display centrosome amplification and genomic instability. Lats2 localizes to centrosomes and overexpression of Lats2 suppresses centrosome overduplication induced in wild-type MEFs and reverses centrosome amplification inherent in Lats2(-/-) MEFs. These findings indicate an essential role of Lats2 in the integrity of processes that govern centrosome duplication, maintenance of mitotic fidelity and genomic stability.

Animals↗

DDB1 maintains genome integrity through regulation of Cdt1.

DDB1, a component of a Cul4A ubiquitin ligase complex, promotes nucleotide excision repair (NER) and regulates DNA replication. We have investigated the role of human DDB1 in maintaining genome stability. DDB1-depleted cells accumulate DNA double-strand breaks in widely dispersed regions throughout the genome and have activated ATM and ATR cell cycle checkpoints. Depletion of Cul4A yields similar phenotypes, indicating that an E3 ligase function of DDB1 is important for genome maintenance. In contrast, depletion of DDB2, XPA, or XPC does not cause activation of DNA damage checkpoints, indicating that defects in NER are not involved. One substrate of DDB1-Cul4A that is crucial for preventing genome instability is Cdt1. DDB1-depleted cells exhibit increased levels of Cdt1 protein and rereplication, despite containing other Cdt1 regulatory mechanisms. The rereplication, accumulation of DNA damage, and activation of checkpoint responses in DDB1-depleted cells require entry into S phase and are partially, but not completely, suppressed by codepletion of Cdt1. Therefore, DDB1 prevents DNA lesions from accumulating in replicating human cells, in part by regulating Cdt1 degradation.

Animals↗

Issues in developing integrated genomic databases and application to the human X chromosome.

MOTIVATION: In the past decade, a vast amount of mapping data has been generated on the human X chromosome, without a mechanism which would provide a global view of exactly what has been achieved. Large datasets are available electronically, but in heterogeneous formats and with incompatible access modes. In addition, relationships between objects in different datasets are often not specified. RESULTS: We discuss the problem of integrating these data into one database and define a number of requirements that are vital for any integration approach. We have developed IXDB, the Integrated X chromosome database, which fulfils those requirements and aims at providing a global view on genomic data at a chromosomal level. IXDB represents a conceptual framework based on identifying, storing and analysing relationships between biological objects, and includes a series of tools to automate the integration of such information. It currently focuses on physical mapping data, as a starting point towards a map of the human X chromosome that should provide a uniform and global research resource for ongoing and future sequencing and functional studies. AVAILABILITY: IXDB is available at http://ixdb.mpimg-berlin-dahlem.mpg.de. The iace2ixdb software and a description of the Iace data format are available from the authors. CONTACT: hrc@genoscope.cns.fr

Database Management Systems↗

Post-genome integrative biology: so that's what they call clinical science.

Medical science is increasingly dominated by slogans, a characteristic reflecting its growing bureaucratic and corporate structure. Chief amongst these slogans is the idea that genomics will transform the public health. I believe this view is mistaken. Using studies of the genetics of skin cancer and the genetics of skin pigmentation, I describe how recent discoveries have contributed to our understanding of these topics and of human evolution. I contrast these discoveries with insights gained from other approaches, particularly those based on clinical studies. The 'IKEA model of medical advance'--you just do the basic science in the laboratory and self-assemble in the clinic--is not only damaging to clinical advance, but reflects a widespread ignorance about the nature of disease and how clinical discovery arises. We need to think more about disease and less about genes; more in the clinic and less in the laboratory.

Animals↗