Current Genomics - Volume 6, Issue 3, 2005

Conrad H. Waddington (1905-1975) is the developmental biologist generally known as the inventor of the term “epigenetics,” which literally means “outside of genetics” [1]. In modern usage, “epigenetics” refers to “all meiotically and mitotically heritable changes in gene expression that are not coded in the DNA sequence itself” [2]. Methylation of the C5 position of cytosine in DNA, 5meC, has been recognized as a principle epige Read More

The study of epigenetic regulation of genes involved in breast cancer provides a level of complexity that lends understanding to the factors contributing to this prevalent disease. Recent evidence from studies that employ pharmacological agents such as trichostatin A and/or 5-aza-cytidine to alter epigenetic changes have been shown to reactivate key regulators such as p21 in breast cancer cells or explain silencing Read More

The new millennium has brought with it a surge of research in the field of epigenetics. This has included advances in our understanding of stem cell characteristics and mechanisms of commitment to cell lineages prior to differentiation. The nature of stem cells is similar to that of malignant cells in that they have unlimited self-renewal and protection from apoptosis, leading researchers to suspect that stem cells are the target of Read More

Fondon and Garner have recently offered a hypothesis that gene-associated tandem repeat expansions and contractions in the protein coding regions of developmental genes are a major source for rapid morphological variation in dog breeds [1]. Repeat expansions and contractions can occur at rates up to 100, 000 times higher than point mutations [2, 3], so this class of mutation potentially has a much greater effect on Read More

The potential of a genome sequence for the rapid identification of genes encoding specific enzymes was evaluated using the Aspergillus nidulans genome and plant cell wall polysaccharide degrading enzymes as an example. These enzymes are used in many industrial applications and many genes encoding these enzymes have already been identified in Aspergillus. Detailed in silica analysis of the ORFs assigned to the relevan Read More

Polyglutamine (polyQ) expansion causes nine inherited neurodegenerative disorders, including Huntington's Disease, Spinobulbar Muscular Atrophy, Dentatorubral-Pallidoluysian Atrophy, and Spinocerebellar Ataxias 1, 2, 3, 6, 7, and 17. The common pathological feature of these diseases is the formation of intracellular polyglutamine inclusions or aggregates. Previous studies have focused on the intranuclear inclusions and foun Read More

Tropheryma whipplei is a Gram positive human pathogen that is the causative agent of Whipple's disease. Nearly one century elapsed between the first description of the disease in 1907 and the cultivation of this bacterium within eukaryotic cell cultures in 2000. This achievement has made possible genome sequencing of this poorly studied microorganism. This review summarizes post-genomic knowledge resulting from thes Read More

Sequencing of the human genome has opened the door to the most exciting new era for studying complex genetic traits. Positional cloning is a powerful approach, and is aimed at the identification and cloning genes, based on their chromosomal location identified through linkage analysis. The past decade has seen substantial success in identifying genes responsible for monogenic disorders while progress in gene identificat Read More