DNA methylation contributes to the regulation of long-term gene repression by enabling the recruitment of transcriptional repressor complexes to methylated cytosines. Several methods for detecting DNA methylation at the gene-specific and genome-wide levels have been devel ...

Biochemical methods to analyze co-transcriptional recruitment of co-activators to nascent RNA molecules have lagged behind for many years. Most of the information on co-transcriptional regulation of nascent RNA came from invaluable in situ studies using single-cell model syst ...

Spatial organization of chromatin plays an important role at multiple levels of genome regulation. On a global scale, its function is evident in processes like metaphase and chromosome segregation. On a detailed level, long-range interactions between regulatory elements and promo ...

Chromosome conformation capture (3C) methodology was developed to study spatial organization of long genomic regions in living cells. Briefly, chromatin is fixed with formaldehyde in vivo to cross-link interacting sites, digested with a restriction enzyme and ligated at a low DNA con ...

Gene expression is a dynamic process and is tightly connected to changes in chromatin structure and nuclear organization (Schneider, R. and Grosschedl, R., 2007, Genes Dev. 21, 3027–3043; Kosak, S. T. and Groudine, M., 2004, Genes Dev. 18, 1371–1384). Our ability to understand the intimate interactio ...

The simultaneous genotyping of thousands of single nucleotide polymorphisms (SNPs) in a genome using SNP-Arrays is a very important tool that is revolutionizing genetics and molecular biology. We expanded the utility of this technique by using it following chromatin immunoprecip ...

The biological significance of interactions of nuclear proteins with DNA in the context of gene expression, cell differentiation, or disease has immensely been enhanced by the advent of chromatin immunoprecipitation (ChIP). ChIP is a technique whereby a protein of interest is selecti ...

The development of array comparative genomic hybridization (aCGH) techniques has allowed to characterize more precisely several human neoplasms with the aim of providing prognostic markers and targets for directed therapeutic intervention. Recently, several studies app ...

Adult T-cell leukemia/lymphoma (ATLL) is the neoplasm caused by human T-cell leukemia virus type 1 (HTLV-1). We performed oligoarray comparative genomic hybridization (CGH) against paired samples comprising peripheral blood (PB) and lymph node (LN) samples from patients with acute ...

The application of SNP array technology to the analysis of cancer genomes has greatly advanced our knowledge of the incidence and functional consequences of acquired genomic copy number aberrations (aCNA) and LOH in various malignancies. The major challenges of using SNP arrays are accu ...

Array-based comparative genomic hybridization (aCGH) is a powerful assay to identify copy number abnormalities underlying the pathogenesis of cancer. aCGH has become the gold standard for whole genome copy number analysis in medium and large cohorts in clinical and research labora ...

Various microarray platforms, including BAC, oligonucleotide, and SNP arrays, have been shown to �provide clinically useful diagnostic and prognostic information for patients with myelodysplastic syndromes (MDS). Clinically useful arrays are designed with specific purp ...

Chromosomal alteration is one of the hallmarks of chronic myeloid leukemia (CML), and the Philadelphia chromosome is the most important and key example of the chromosomal changes in this disease. Indeed, the BCR–ABL1 fusion product is a target against which many tyrosine kinase inhibitors ...

DNA methylation patterns are increasingly surveyed through methods that utilize massively parallel sequencing. Sequence-based assays developed to detect DNA methylation can be broadly divided into those that depend on affinity enrichment, chemical conversion, or enzymat ...

The characterization of molecular alterations specific to cancer facilitates the discovery of predictive and prognostic biomarkers important to targeted therapeutics. Alterations critical to cancer therapeutics include copy number alterations (CNAs) such as gene ampl ...

Chromosomal aneuploidy and segmental copy number changes are common genomic aberrations in �cancer. Copy number alterations (CNAs) arise from deletions, insertions, or duplications resulting in �chromosomal aberrations and aneuploidy. Genomes of normal cells also exhibit ...

In this chapter, we review some recent methods designed for detecting recurrent copy number regions, that is, genomic regions that show evidence of being altered in a set of samples. We analyze Affymetrix SNP6 data from 87 Her2-type breast tumors from a recent study using three different methods, s ...

Alterations in the copy number of the cancer genome are frequently observed in brain tumors especially gliomas. Some pertinent examples include amplification of the EGFR locus in chromosome 7p and loss of the PTEN locus in 10q in glioblastoma. Meningiomas are often associated with loss of the N ...

From the earliest observations of human chromosomes in the late 1800s to modern day next generation sequencing technologies, much has been learned about human cancers by the vigorous application of the techniques of the day. In general, resolution has improved tremendously, and corresp ...

This chapter summarizes the current knowledge on gene copy number changes found in lung tumors, and their application in the diagnosis, prognostication, and prediction of response to chemotherapy. Examples of the identification of specific “driver” oncogenes within amplified DNA ...