遗传学实验技术

The recent application of high throughput genotyping in humans has yielded numerous insights into the genetic basis of human phenotypes and unprecedented amount of genetic variation data. Each genome wide significant finding has explained only a tiny proportion of phenotypic vari ...

Biomedical researchers studying gene function should consider the impact of variation, even if genetics is not the primary objective of an investigation. Information on genetic variation can provide a valuable insight into the functional range and critical regions of a gene, protein or ...

Interindividual variation in gene expression has been convincingly shown to be controlled, in part, by genetic differences. Determining the architecture of genetic variation, the underlying gene expression may allow deeper insight into complex phenotypes, such as differences ...

As databases of genome data continue to grow, our understanding of the functional elements of the genome grows as well. Many genetic changes in the genome have now been discovered and characterized, including both disease-causing mutations and neutral polymorphisms. In addition to expe ...

Single nucleotide polymorphisms (SNPs) are widely distributed in the human genome and although most SNPs are the result of independent point-mutations, there are exceptions. When studying distances between SNPs, a periodic pattern in the distance between pairs of identical SNPs has b ...

Constitutional chromosomal aberrations are inborn changes with or without phenotypic consequences. Conventional chromosome analysis has been for a long time the method of choice for identification of such abnormalities. However, over the past decades, several molecular cyto ...

The analysis of cancer genomes has benefited from the advances in technology that enable data to be generated on an unprecedented scale, describing a tumour genome’s sequence and composition at increasingly high resolution and reducing cost. This progress is likely to increase further o ...

Mobile elements represent a unique and powerful set of tools for understanding the variation in a genome. Methods exist not only to utilize the polymorphisms among and within taxa to various ends but also to investigate the mechanism through which mobilization occurs. The number of methods to a ...

Transposable elements (TE), defined as discrete pieces of DNA that can move from one site to another site in genomes, represent significant components of eukaryotic genomes, including primates. Comparative genome-wide analyses have revealed the considerable structural and func ...

Recent studies have highlighted the potential prevalence of copy number variation (CNV) in mammalian genomes, including the human genome. These studies suggest that CNVs may play a potentially important role in human phenotypic diversity and disease susceptibility. Here, we consi ...

The structure and sequence of the genome is immensely variable in the human population. Segmental copy number variants (CNVs) contribute to the extensive phenotypic diversity among humans and have been shown to associate with disease susceptibility. In this article, we provide a detail ...

Precise regulation of the levels and timing of gene expression is fundamental to all biological processes and is largely determined by the activity of cis-regulatory modules, containing the binding sites for transcription factors, within promoters and enhancers. The global identi ...

DNase I hypersensitivity (DHS) analysis is a powerful method to analyze chromatin structure and identify genomic regulatory elements. Integration of a high-throughput detection method into DHS analysis makes genome-wide mapping of DHS sites possible at a reasonable cost. Here we de ...

There are now many methods available for studying protein interactions between DNA methltransferases (DNMTs) and their binding partners. Here we describe a step-by-step procedure to identify whether proteins of interest interact with DNMTs by co-immunoprecipitation (co-IP) a ...

Estrogens, acting via estrogen receptor (ER) play key roles in growth, differentiation, and gene regulation in the reproductive, central nervous, and skeletal systems. ER-mediated gene transcription contributes to the development and spread of breast, uterine, and liver cancer. St ...

The two-hybrid system is a powerful genetic assay that allows the interaction between two proteins to be detected in vivo. It was originally described in 1989 and since then it has been one of the main techniques used to identify interactions between proteins from different cellular organisms. ...

Co-repressor proteins function as platforms for the assembly of multi-subunit complexes that mediate transcriptional repression. Common components of such complexes are histone deacetylases, which catalyze the removal of acetyl groups from the tails of histones within nucle ...

DNase hypersensitivity (DHS) analysis coupled with high-throughput DNA sequencing (DNase-seq) has emerged as a powerful tool to analyze chromatin accessibility and identify regulatory sequences in genomic DNA on a global scale. In this method, intact nuclei are isolated from fresh t ...

Pluripotent stem cells can be directed into myogenic differentiation by small molecular inducers, which preferentially activate muscle-specific transcription networks. Here we describe how to efficiently direct the differentiation of pluripotent P19 cells into skelet ...

The bromodomain is an evolutionarily conserved motif harbored by many transcription regulators and nearly all nuclear histone acetyltransferases including the transcriptional coactivator p300. The function of p300 is required for the expression of an array of genes, in part thro ...